rss

Journal of Medical Genetics
Supplementary Material

Supplementary material related to the following articles is available online:

  • De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin

    • Sarah E Heron,
    • Ingrid E Scheffer,
    • Xenia Iona,
    • Sameer M Zuberi,
    • Rachael Birch,
    • Jacinta M McMahon,
    • Carla M Bruce,
    • Samuel F Berkovic,
    • and John C Mulley
    2010 47:137-141

  • Breast cancer susceptibility variants alter risks in familial disease

    • Ayse Latif,
    • Kristen D Hadfield,
    • Stephen A Roberts,
    • Andrew Shenton,
    • Fiona Lalloo,
    • Graeme C M Black,
    • Anthony Howell,
    • D Gareth Evans,
    • and William G Newman
    2010 47:126-131

  • Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements

    • B I Dimitrov,
    • T de Ravel,
    • J Van Driessche,
    • C de Die-Smulders,
    • A Toutain,
    • J R Vermeesch,
    • J P Fryns,
    • K Devriendt,
    • and P Debeer
    2010 47:103-111

  • A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism

    • Ravinesh A Kumar,
    • Jyotsna Sudi,
    • Timothy D Babatz,
    • Camille W Brune,
    • Donald Oswald,
    • Mayon Yen,
    • Norma J Nowak,
    • Edwin H Cook,
    • Susan L Christian,
    • and William B Dobyns
    2010 47:81-90

  • DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis

    • P Isohanni,
    • T Linnankivi,
    • J Buzkova,
    • T Lönnqvist,
    • H Pihko,
    • L Valanne,
    • P J Tienari,
    • I Elovaara,
    • T Pirttilä,
    • M Reunanen,
    • K Koivisto,
    • S Marjavaara,
    • and A Suomalainen
    2010 47:66-70

  • Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

    • H Vega,
    • A H Trainer,
    • M Gordillo,
    • M Crosier,
    • H Kayserili,
    • F Skovby,
    • M L Giovannucci Uzielli,
    • R E Schnur,
    • S Manouvrier,
    • E Blair,
    • J A Hurst,
    • F Forzano,
    • M Meins,
    • K O J Simola,
    • A Raas-Rothschild,
    • R C M Hennekam,
    • and E Wang Jabs
    2010 47:30-37

  • MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

    • N Le Meur,
    • M Holder-Espinasse,
    • S Jaillard,
    • A Goldenberg,
    • S Joriot,
    • P Amati-Bonneau,
    • A Guichet,
    • M Barth,
    • A Charollais,
    • H Journel,
    • S Auvin,
    • C Boucher,
    • J-P Kerckaert,
    • V David,
    • S Manouvrier-Hanu,
    • P Saugier-Veber,
    • T Frébourg,
    • C Dubourg,
    • J Andrieux,
    • and D Bonneau
    2010 47:22-29

  • Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes

    • B Y Choi,
    • A C Madeo,
    • K A King,
    • C K Zalewski,
    • S P Pryor,
    • J A Muskett,
    • W E Nance,
    • J A Butman,
    • C C Brewer,
    • and A J Griffith
    2009 46:856-861

  • Meta-analysis of vascular endothelial growth factor variations in amyotrophic lateral sclerosis: increased susceptibility in male carriers of the –2578AA genotype

    • D Lambrechts,
    • K Poesen,
    • R Fernández-Santiago,
    • A Al-Chalabi,
    • R Del Bo,
    • P W J Van Vught,
    • S Khan,
    • S L Marklund,
    • A Brockington,
    • I van Marion,
    • J Anneser,
    • C Shaw,
    • A C Ludolph,
    • N P Leigh,
    • G P Comi,
    • T Gasser,
    • P J Shaw,
    • K E Morrison,
    • P M Andersen,
    • L H Van den Berg,
    • V Thijs,
    • T Siddique,
    • W Robberecht,
    • and P Carmeliet
    2009 46:840-846

  • Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain

    • J Chen,
    • G Wildhardt,
    • Z Zhong,
    • R Röth,
    • B Weiss,
    • D Steinberger,
    • J Decker,
    • W F Blum,
    • and G Rappold
    2009 46:834-839

  • Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation

    • M Sévin,
    • Z Kutalik,
    • S Bergman,
    • M Vercelletto,
    • P Renou,
    • E Lamy,
    • F J Vingerhoets,
    • G Di Virgilio,
    • P Boisseau,
    • S Bezieau,
    • L Pasquier,
    • J-M Rival,
    • J S Beckmann,
    • P Damier,
    • and S Jacquemont
    2009 46:818-824

  • Clinical and cellular characterisation of Hermansky–Pudlak syndrome type 6

    • M Huizing,
    • B Pederson,
    • R A Hess,
    • A Griffin,
    • A Helip-Wooley,
    • W Westbroek,
    • H Dorward,
    • K J O’Brien,
    • G Golas,
    • E Tsilou,
    • J G White,
    • and W A Gahl
    2009 46:803-810

  • Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing

    • R W Labrum,
    • S Rajakulendran,
    • T D Graves,
    • L H Eunson,
    • R Bevan,
    • M G Sweeney,
    • S R Hammans,
    • N Tubridy,
    • T Britton,
    • L J Carr,
    • J R Ostergaard,
    • C R Kennedy,
    • A Al-Memar,
    • D M Kullmann,
    • S Schorge,
    • K Temple,
    • M B Davis,
    • and M G Hanna
    2009 46:786-791

  • The unfolding clinical spectrum of POLG mutations

    • M J Blok,
    • B J van den Bosch,
    • E Jongen,
    • A Hendrickx,
    • C E de Die-Smulders,
    • J E Hoogendijk,
    • E Brusse,
    • M de Visser,
    • B T Poll-The,
    • J Bierau,
    • I F de Coo,
    • and H J Smeets
    2009 46:776-785

  • TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li–Fraumeni syndrome: impact on age at first diagnosis

    • V Marcel,
    • E I Palmero,
    • P Falagan-Lotsch,
    • G Martel-Planche,
    • P Ashton-Prolla,
    • M Olivier,
    • R R Brentani,
    • P Hainaut,
    • and M I Achatz
    2009 46:766-772

  • Deregulation of EIF4E: a novel mechanism for autism

    • M Neves-Pereira,
    • B Müller,
    • D Massie,
    • J H G Williams,
    • P C M O’Brien,
    • A Hughes,
    • S-B Shen,
    • David St Clair,
    • and Z Miedzybrodzka
    2009 46:759-765

  • Characterisation of psoriasis susceptibility locus 6 (PSORS6) in patients with early onset psoriasis and evidence for interaction with PSORS1

    • U Hüffmeier,
    • J Lascorz,
    • T Becker,
    • F Schürmeier-Horst,
    • A Magener,
    • A B Ekici,
    • S Endele,
    • C T Thiel,
    • S Thoma-Uszynski,
    • R Mössner,
    • K Reich,
    • W Kurrat,
    • T F Wienker,
    • H Traupe,
    • and A Reis
    2009 46:736-744

  • Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery

    • D Furniss,
    • S-h Kan,
    • I B Taylor,
    • D Johnson,
    • P S Critchley,
    • H P Giele,
    • and A O M Wilkie
    2009 46:730-735

  • Encephalocraniocutaneous lipomatosis

    • U Moog
    2009 46:721-729

  • Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity

    • K Kanai,
    • S Yoshida,
    • S Hirose,
    • H Oguni,
    • S Kuwabara,
    • S Sawai,
    • A Hiraga,
    • G Fukuma,
    • H Iwasa,
    • T Kojima,
    • and S Kaneko
    2009 46:671-679

  • Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)

    • E A Otto,
    • K Tory,
    • M Attanasio,
    • W Zhou,
    • M Chaki,
    • Y Paruchuri,
    • E L Wise,
    • M T F Wolf,
    • B Utsch,
    • C Becker,
    • G Nürnberg,
    • P Nürnberg,
    • A Nayir,
    • S Saunier,
    • C Antignac,
    • and F Hildebrandt
    2009 46:663-670

  • Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange

    • J Yan,
    • F Zhang,
    • E Brundage,
    • A Scheuerle,
    • B Lanpher,
    • R P Erickson,
    • Z Powis,
    • H B Robinson,
    • P L Trapane,
    • D Stachiw-Hietpas,
    • K M Keppler-Noreuil,
    • S R Lalani,
    • T Sahoo,
    • A C Chinault,
    • A Patel,
    • S W Cheung,
    • and J R Lupski
    2009 46:626-634

  • A genome-wide association study suggests that a locus within the ataxin 2 binding protein 1 gene is associated with hand osteoarthritis: the Treat-OA consortium

    • G Zhai,
    • J B J van Meurs,
    • G Livshits,
    • I Meulenbelt,
    • A M Valdes,
    • N Soranzo,
    • D Hart,
    • F Zhang,
    • B S Kato,
    • J B Richards,
    • F M K Williams,
    • M Inouye,
    • M Kloppenburg,
    • P Deloukas,
    • E Slagboom,
    • A Uitterlinden,
    • and T D Spector
    2009 46:614-616

  • Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations

    • V Tran-Fadulu,
    • H Pannu,
    • D H Kim,
    • G W Vick III,
    • C M Lonsford,
    • A L Lafont,
    • C Boccalandro,
    • S Smart,
    • K L Peterson,
    • J Zenger Hain,
    • M C Willing,
    • J S Coselli,
    • S A LeMaire,
    • C Ahn,
    • P H Byers,
    • and D M Milewicz
    2009 46:607-613

  • Epigenetic analysis of the critical region I for premature ovarian failure: demonstration of a highly heterochromatic domain on the long arm of the mammalian X chromosome

    • F Rizzolio,
    • T Pramparo,
    • C Sala,
    • O Zuffardi,
    • L De Santis,
    • E Rabellotti,
    • F Calzi,
    • F Fusi,
    • R Bellazzi,
    • and D Toniolo
    2009 46:585-592

  • Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region

    • C M Wang,
    • P H Dixon,
    • S Decordova,
    • M D Hodges,
    • N J Sebire,
    • S Ozalp,
    • M Fallahian,
    • A Sensi,
    • F Ashrafi,
    • V Repiska,
    • J Zhao,
    • Y Xiang,
    • P M Savage,
    • M J Seckl,
    • and R A Fisher
    2009 46:569-575

  • Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases

    • T Furuichi,
    • H Kayserili,
    • S Hiraoka,
    • G Nishimura,
    • H Ohashi,
    • Y Alanay,
    • J C Lerena,
    • A D Aslanger,
    • H Koseki,
    • D H Cohn,
    • A Superti-Furga,
    • S Unger,
    • and S Ikegawa
    2009 46:562-568

  • Association of RASGRP1 with type 1 diabetes is revealed by combined follow-up of two genome-wide studies

    • H Q Qu,
    • S F A Grant,
    • J P Bradfield,
    • C Kim,
    • E Frackelton,
    • H Hakonarson,
    • and C Polychronakos
    2009 46:553-554

  • Natural course of Fabry disease: changing pattern of causes of death in FOS – Fabry Outcome Survey

    • A Mehta,
    • J T R Clarke,
    • R Giugliani,
    • P Elliott,
    • A Linhart,
    • M Beck,
    • G Sunder-Plassmann,
    • and on behalf of the FOS Investigators
    2009 46:548-552

  • High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings

    • M Tyreman,
    • K M Abbott,
    • L R Willatt,
    • R Nash,
    • C Lees,
    • J Whittaker,
    • and I Simonic
    2009 46:531-541

  • 17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction

    • B Grisart,
    • L Willatt,
    • A Destrée,
    • J-P Fryns,
    • K Rack,
    • T de Ravel,
    • J Rosenfeld,
    • J R Vermeesch,
    • C Verellen-Dumoulin,
    • and R Sandford
    2009 46:524-530

  • Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

    • B W M van Bon,
    • H C Mefford,
    • B Menten,
    • D A Koolen,
    • A J Sharp,
    • W M Nillesen,
    • J W Innis,
    • T J L de Ravel,
    • C L Mercer,
    • M Fichera,
    • H Stewart,
    • L E Connell,
    • K Õunap,
    • K Lachlan,
    • B Castle,
    • N Van der Aa,
    • C van Ravenswaaij,
    • M A Nobrega,
    • C Serra-Juhé,
    • I Simonic,
    • N de Leeuw,
    • R Pfundt,
    • E M Bongers,
    • C Baker,
    • P Finnemore,
    • S Huang,
    • V K Maloney,
    • J A Crolla,
    • M van Kalmthout,
    • M Elia,
    • G Vandeweyer,
    • J P Fryns,
    • S Janssens,
    • N Foulds,
    • S Reitano,
    • K Smith,
    • S Parkel,
    • B Loeys,
    • C G Woods,
    • A Oostra,
    • F Speleman,
    • A C Pereira,
    • A Kurg,
    • L Willatt,
    • S J L Knight,
    • J R Vermeesch,
    • C Romano,
    • J C Barber,
    • G Mortier,
    • L A Pérez-Jurado,
    • F Kooy,
    • H G Brunner,
    • E E Eichler,
    • T Kleefstra,
    • and B B A de Vries
    2009 46:511-523

  • Genome-wide linkage scan for plasma high density lipoprotein cholesterol, apolipoprotein A-1 and triglyceride variation among American Indian populations: the Strong Heart Family Study

    • X Li,
    • K L Monda,
    • H H H Göring,
    • K Haack,
    • S A Cole,
    • V P Diego,
    • L Almasy,
    • S Laston,
    • B V Howard,
    • N M Shara,
    • E T Lee,
    • L G Best,
    • R R Fabsitz,
    • J W MacCluer,
    • and Kari E North
    2009 46:472-479

  • The effect of the MHC locus on autoantibodies in type 1 diabetes

    • H-Q Qu,
    • and C Polychronakos
    2009 46:469-471

  • Molecular analyses of the LRRK2 gene in European and North African autosomal dominant Parkinson’s disease

    • S Lesage,
    • C Condroyer,
    • A Lannuzel,
    • E Lohmann,
    • A Troiano,
    • F Tison,
    • P Damier,
    • S Thobois,
    • A-M Ouvrard-Hernandez,
    • S Rivaud-Péchoux,
    • C Brefel-Courbon,
    • A Destée,
    • C Tranchant,
    • M Romana,
    • L Leclere,
    • A Dürr,
    • A Brice,
    • and for the French Parkinson’s Disease Genetics Study Group
    2009 46:458-464

  • A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents

    • J Knijnenburg,
    • S A J Lesnik Oberstein,
    • K Frei,
    • T Lucas,
    • A C J Gijsbers,
    • C A L Ruivenkamp,
    • H J Tanke,
    • and K Szuhai
    2009 46:412-417

  • Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

    • F Lacbawan,
    • B D Solomon,
    • E Roessler,
    • K El-Jaick,
    • S Domené,
    • J I Vélez,
    • N Zhou,
    • D Hadley,
    • J Z Balog,
    • R Long,
    • A Fryer,
    • W Smith,
    • S Omar,
    • S D McLean,
    • K Clarkson,
    • A Lichty,
    • N J Clegg,
    • M R Delgado,
    • E Levey,
    • E Stashinko,
    • L Potocki,
    • M I VanAllen,
    • J Clayton-Smith,
    • D Donnai,
    • D W Bianchi,
    • P B Juliusson,
    • P R Njølstad,
    • H G Brunner,
    • J C Carey,
    • U Hehr,
    • J Müsebeck,
    • P F Wieacker,
    • A Postra,
    • R C M Hennekam,
    • M-J H van den Boogaard,
    • A van Haeringen,
    • A Paulussen,
    • J Herbergs,
    • C T R M Schrander-Stumpel,
    • A R Janecke,
    • D Chitayat,
    • J Hahn,
    • D M McDonald-McGinn,
    • E H Zackai,
    • W B Dobyns,
    • and M Muenke
    2009 46:389-398

  • Parkin and PINK1 mutations in early-onset Parkinson’s disease: comprehensive screening in publicly available cases and control

    • J Brooks,
    • J Ding,
    • J Simon-Sanchez,
    • C Paisan-Ruiz,
    • A B Singleton,
    • and S W Scholz
    2009 46:375-381

  • Large scale replication analysis of loci associated with lipid concentrations in a Japanese population

    • K Nakayama,
    • T Bayasgalan,
    • K Yamanaka,
    • M Kumada,
    • T Gotoh,
    • N Utsumi,
    • Y Yanagisawa,
    • M Okayama,
    • E Kajii,
    • S Ishibashi,
    • S Iwamoto,
    • and The Jichi Community Genetics Team (JCOG)
    2009 46:370-374

  • Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations

    • M Bourbon,
    • M A Duarte,
    • A C Alves,
    • A M Medeiros,
    • L Marques,
    • and A K Soutar
    2009 46:352-357

  • Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum

    • C Crimella,
    • A Arnoldi,
    • F Crippa,
    • M L Mostacciuolo,
    • F Boaretto,
    • M Sironi,
    • M Grazia D’Angelo,
    • S Manzoni,
    • L Piccinini,
    • A C Turconi,
    • A Toscano,
    • O Musumeci,
    • S Benedetti,
    • R Fazio,
    • N Bresolin,
    • A Daga,
    • A Martinuzzi,
    • and M T Bassi
    2009 46:345-351

  • A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension

    • M Shintani,
    • H Yagi,
    • T Nakayama,
    • T Saji,
    • and R Matsuoka
    2009 46:331-337

  • Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes

    • S M Ware,
    • N El-Hassan,
    • S G Kahler,
    • Q Zhang,
    • Y-W,
    • E Miller,
    • B Wong,
    • R L Spicer,
    • W J Craigen,
    • B A Kozel,
    • D K Grange,
    • and L-J Wong
    2009 46:308-314

  • Polymorphisms in C2, CFB and C3 are associated with progression to advanced age related macular degeneration associated with visual loss

    • P J Francis,
    • S C Hamon,
    • J Ott,
    • R G Weleber,
    • and M L Klein
    2009 46:300-307

  • Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia

    • M Failly,
    • L Bartoloni,
    • A Letourneau,
    • A Munoz,
    • E Falconnet,
    • C Rossier,
    • M M de Santi,
    • F Santamaria,
    • O Sacco,
    • C D DeLozier-Blanchet,
    • R Lazor,
    • and J-L Blouin
    2009 46:281-286

  • The molecular landscape of ASPM mutations in primary microcephaly

    • A K Nicholas,
    • E A Swanson,
    • J J Cox,
    • G Karbani,
    • S Malik,
    • K Springell,
    • D Hampshire,
    • M Ahmed,
    • J Bond,
    • D Di Benedetto,
    • M Fichera,
    • C Romano,
    • W B Dobyns,
    • and C G Woods
    2009 46:249-253

  • Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

    • D T Miller,
    • Y Shen,
    • L A Weiss,
    • J Korn,
    • I Anselm,
    • C Bridgemohan,
    • G F Cox,
    • H Dickinson,
    • J Gentile,
    • D J Harris,
    • V Hegde,
    • R Hundley,
    • O Khwaja,
    • S Kothare,
    • C Luedke,
    • R Nasir,
    • A Poduri,
    • K Prasad,
    • P Raffalli,
    • A Reinhard,
    • S E Smith,
    • M M Sobeih,
    • J S Soul,
    • J Stoler,
    • M Takeoka,
    • W-H Tan,
    • J Thakuria,
    • R Wolff,
    • R Yusupov,
    • J F Gusella,
    • M J Daly,
    • and B-L Wu
    2009 46:242-248

  • Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

    • A Willaert,
    • F Malfait,
    • S Symoens,
    • K Gevaert,
    • H Kayserili,
    • A Megarbane,
    • G Mortier,
    • J G Leroy,
    • P J Coucke,
    • and A De Paepe
    2009 46:233-241

  • Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

    • F D Hannes,
    • A J Sharp,
    • H C Mefford,
    • T de Ravel,
    • C A Ruivenkamp,
    • M H Breuning,
    • J-P Fryns,
    • K Devriendt,
    • G Van Buggenhout,
    • A Vogels,
    • H Stewart,
    • R C Hennekam,
    • G M Cooper,
    • R Regan,
    • S J L Knight,
    • E E Eichler,
    • and J R Vermeesch
    2009 46:223-232

  • Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome

    • R A Maselli,
    • J J Ng,
    • J A Anderson,
    • O Cagney,
    • J Arredondo,
    • C Williams,
    • H B Wessel,
    • H Abdel-Hamid,
    • and R L Wollmann
    2009 46:203-208

  • Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

    • C Depienne,
    • O Trouillard,
    • C Saint-Martin,
    • I Gourfinkel-An,
    • D Bouteiller,
    • W Carpentier,
    • B Keren,
    • B Abert,
    • A Gautier,
    • S Baulac,
    • A Arzimanoglou,
    • C Cazeneuve,
    • R Nabbout,
    • and E LeGuern
    2009 46:183-191

  • 20p12.3 microdeletion predisposes to Wolff–Parkinson–White syndrome with variable neurocognitive deficits

    • S R Lalani,
    • J V Thakuria,
    • G F Cox,
    • X Wang,
    • W Bi,
    • M S Bray,
    • C Shaw,
    • S W Cheung,
    • A C Chinault,
    • B A Boggs,
    • Z Ou,
    • E K Brundage,
    • J R Lupski,
    • J Gentile,
    • S Waisbren,
    • A Pursley,
    • L Ma,
    • M Khajavi,
    • G Zapata,
    • R Friedman,
    • J J Kim,
    • J A Towbin,
    • P Stankiewicz,
    • S Schnittger,
    • I Hansmann,
    • T Ai,
    • S Sood,
    • X H Wehrens,
    • J F Martin,
    • J W Belmont,
    • and L Potocki
    2009 46:168-175

  • The protective effect of farm animal exposure on childhood allergy is modified by NPSR1 polymorphisms

    • S Bruce,
    • F Nyberg,
    • E Melén,
    • A James,
    • V Pulkkinen,
    • C Orsmark-Pietras,
    • A Bergström,
    • B Dahlén,
    • M Wickman,
    • E von Mutius,
    • G Doekes,
    • R Lauener,
    • J Riedler,
    • W Eder,
    • M van Hage,
    • G Pershagen,
    • A Scheynius,
    • and J Kere
    2009 46:159-167

  • Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice

    • D L Bruno,
    • D Ganesamoorthy,
    • J Schoumans,
    • A Bankier,
    • D Coman,
    • M Delatycki,
    • R J M Gardner,
    • M Hunter,
    • P A James,
    • P Kannu,
    • G McGillivray,
    • N Pachter,
    • H Peters,
    • C Rieubland,
    • R Savarirayan,
    • I E Scheffer,
    • L Sheffield,
    • T Tan,
    • S M White,
    • A Yeung,
    • Z Bowman,
    • C Ngo,
    • K W Choy,
    • V Cacheux,
    • L Wong,
    • D J Amor,
    • and H R Slater
    2009 46:123-131

  • Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis

    • H Daoud,
    • P N Valdmanis,
    • E Kabashi,
    • P Dion,
    • N Dupré,
    • W Camu,
    • V Meininger,
    • and G A Rouleau
    2009 46:112-114

  • Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile X mouse model

    • T V Bilousova,
    • L Dansie,
    • M Ngo,
    • J Aye,
    • J R Charles,
    • D W Ethell,
    • and I M Ethell
    2009 46:94-102

  • Chromosome 15q11–13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number

    • A Hogart,
    • K N Leung,
    • N J Wang,
    • D J Wu,
    • J Driscoll,
    • R O Vallero,
    • N C Schanen,
    • and J M LaSalle
    2009 46:86-93

  • Longitudinal study of neurofibromatosis 1 associated plexiform neurofibromas

    • T Tucker,
    • J M Friedman,
    • R E Friedrich,
    • R Wenzel,
    • C Fünsterer,
    • and V-F Mautner
    2009 46:81-85

  • Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation

    • L I Elizondo,
    • K S Cho,
    • W Zhang,
    • J Yan,
    • C Huang,
    • Y Huang,
    • K Choi,
    • E A Sloan,
    • K Deguchi,
    • S Lou,
    • A Baradaran-Heravi,
    • H Takashima,
    • T Lücke,
    • F A Quiocho,
    • and C F Boerkoel
    2009 46:49-59

  • Functional polymorphisms in the BRCA1 promoter influence transcription and are associated with decreased risk for breast cancer in Chinese women

    • K Y-K Chan,
    • W Liu,
    • J-R Long,
    • S-P Yip,
    • S-Y Chan,
    • X-O Shu,
    • D T-T Chua,
    • A N-Y Cheung,
    • J C-Y Ching,
    • H Cai,
    • G K-H Au,
    • M Chan,
    • W Foo,
    • H Y-S Ngan,
    • Y-T Gao,
    • E S-W Ngan,
    • M-M Garcia-Barceló,
    • Wei Zheng,
    • and U-S Khoo
    2009 46:32-39

  • Phenotypic variation within European carriers of the Y-chromosomal gr/gr deletion is independent of Y-chromosomal background

    • C Krausz,
    • C Giachini,
    • Y Xue,
    • M K O’Bryan,
    • J Gromoll,
    • E Rajpert-de Meyts,
    • R Oliva,
    • I Aknin-Seifer,
    • E Erdei,
    • N Jorgensen,
    • M Simoni,
    • J L Ballescà,
    • R Levy,
    • G Balercia,
    • P Piomboni,
    • E Nieschlag,
    • G Forti,
    • R McLachlan,
    • and C Tyler-Smith
    2009 46:21-31

  • Association of haplotypes spanning PDZ-GEF2, LOC728637 and ACSL6 with schizophrenia in Han Chinese

    • X-j Luo,
    • H-b Diao,
    • J-k Wang,
    • H Zhang,
    • Z-m Zhao,
    • and B Su
    2008 45:818-826

  • Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene

    • N Ishikawa,
    • S Okada,
    • M Miki,
    • K Shirao,
    • H Kihara,
    • M Tsumura,
    • K Nakamura,
    • H Kawaguchi,
    • M Ohtsubo,
    • S Yasunaga,
    • K Matsubara,
    • M Sako,
    • J Hara,
    • M Shiohara,
    • S Kojima,
    • T Sato,
    • Y Takihara,
    • and M Kobayashi
    2008 45:802-807

  • Polymorphisms in the C-type lectin genes cluster in chromosome 19 and predisposition to severe acute respiratory syndrome coronavirus (SARS-CoV) infection

    • H Li,
    • N L-S Tang,
    • P K-S Chan,
    • C-Y Wang,
    • D S-C Hui,
    • C Luk,
    • R Kwok,
    • W Huang,
    • J J-Y Sung,
    • Q-P Kong,
    • and Y-P Zhang
    2008 45:752-758

  • The HBS1L-MYB intergenic region on chromosome 6q23 is a quantitative trait locus controlling fetal haemoglobin level in carriers of β-thalassaemia

    • C-C So,
    • Y-Q Song,
    • S T Tsang,
    • L-F Tang,
    • A Y Chan,
    • E S Ma,
    • and L-C Chan
    2008 45:745-751

  • Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia

    • S Fischer,
    • J Kohlhase,
    • D Böhm,
    • B Schweiger,
    • D Hoffmann,
    • M Heitmann,
    • B Horsthemke,
    • and D Wieczorek
    2008 45:731-737

  • Genetic analysis of 56 polymorphisms in 17 genes involved in methionine metabolism in patients with abdominal aortic aneurysm

    • B Giusti,
    • C Saracini,
    • P Bolli,
    • A Magi,
    • I Sestini,
    • E Sticchi,
    • G Pratesi,
    • R Pulli,
    • C Pratesi,
    • and R Abbate
    2008 45:721-730

  • Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

    • D A Koolen,
    • A J Sharp,
    • J A Hurst,
    • H V Firth,
    • S J L Knight,
    • A Goldenberg,
    • P Saugier-Veber,
    • R Pfundt,
    • L E L M Vissers,
    • A Destrée,
    • B Grisart,
    • L Rooms,
    • N Van der Aa,
    • M Field,
    • A Hackett,
    • K Bell,
    • M J M Nowaczyk,
    • G M S Mancini,
    • P J Poddighe,
    • C E Schwartz,
    • E Rossi,
    • M De Gregori,
    • L L Antonacci-Fulton,
    • M D McLellan II,
    • J M Garrett,
    • M A Wiechert,
    • T L Miner,
    • S Crosby,
    • R Ciccone,
    • L Willatt,
    • A Rauch,
    • M Zenker,
    • S Aradhya,
    • M A Manning,
    • T M Strom,
    • J Wagenstaller,
    • A C Krepischi-Santos,
    • A M Vianna-Morgante,
    • C Rosenberg,
    • S M Price,
    • H Stewart,
    • C Shaw-Smith,
    • H G Brunner,
    • A O M Wilkie,
    • J A Veltman,
    • O Zuffardi,
    • E E Eichler,
    • and B B A de Vries
    2008 45:710-720

  • High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease

    • F Erdogan,
    • L A Larsen,
    • L Zhang,
    • Z Tümer,
    • N Tommerup,
    • W Chen,
    • J R Jacobsen,
    • M Schubert,
    • J Jurkatis,
    • A Tzschach,
    • H-H Ropers,
    • and R Ullmann
    2008 45:704-709

  • Contribution of PTEN large rearrangements in Cowden disease: a multiplex amplifiable probe hybridisation (MAPH) screening approach

    • F Chibon,
    • C Primois,
    • J-M Bressieux,
    • D Lacombe,
    • C Lok,
    • L Mauriac,
    • A Taieb,
    • and M Longy
    2008 45:657-665

  • A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis

    • T Mushiroda,
    • S Wattanapokayakit,
    • A Takahashi,
    • T Nukiwa,
    • S Kudoh,
    • T Ogura,
    • H Taniguchi,
    • M Kubo,
    • N Kamatani,
    • Y Nakamura,
    • and the Pirfenidone Clinical Study Group
    2008 45:654-656

  • The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients

    • A Botta,
    • F Rinaldi,
    • C Catalli,
    • L Vergani,
    • E Bonifazi,
    • V Romeo,
    • E Loro,
    • A Viola,
    • C Angelini,
    • and G Novelli
    2008 45:639-646

  • Correction 2008 45:608

  • Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma

    • A Russell-Swetek,
    • A N West,
    • J E Mintern,
    • J Jenkins,
    • C Rodriguez-Galindo,
    • R Ribeiro,
    • and G P Zambetti
    2008 45:603-606

  • Triphalangeal thumb–polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer

    • M Sun,
    • F Ma,
    • X Zeng,
    • Q Liu,
    • X-L Zhao,
    • F-X Wu,
    • G-P Wu,
    • Z-F Zhang,
    • B Gu,
    • Y-F Zhao,
    • S-H Tian,
    • B Lin,
    • X-Y Kong,
    • X-L Zhang,
    • W Yang,
    • W H-Y Lo,
    • and X Zhang
    2008 45:589-595

  • Molecular basis of the Li–Fraumeni syndrome: an update from the French LFS families

    • G Bougeard,
    • R Sesboüé,
    • S Baert-Desurmont,
    • S Vasseur,
    • C Martin,
    • J Tinat,
    • L Brugières,
    • A Chompret,
    • B Bressac-de Paillerets,
    • D Stoppa-Lyonnet,
    • C Bonaïti-Pellié,
    • T Frébourg,
    • and the French LFS working group
    2008 45:535-538

  • Termination of damaged protein repair defines the occurrence of symptoms in carriers of the m.3243A>G tRNALeu mutation

    • R G E van Eijsden,
    • L M T Eijssen,
    • P J Lindsey,
    • C M M van den Burg,
    • L E A de Wit,
    • M E Rubio-Gozalbo,
    • C E M de Die,
    • T Ayoubi,
    • W Sluiter,
    • I F M de Coo,
    • and H J M Smeets
    2008 45:525-534

  • Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders

    • A-M Nyström,
    • S Ekvall,
    • E Berglund,
    • M Björkqvist,
    • G Braathen,
    • K Duchen,
    • H Enell,
    • E Holmberg,
    • U Holmlund,
    • M Olsson-Engman,
    • G Annerén,
    • and M-L Bondeson
    2008 45:500-506

  • Identifying pathogenic genetic background of simplex or multiplex retinitis pigmentosa patients: a large scale mutation screening study

    • Z-B Jin,
    • M Mandai,
    • T Yokota,
    • K Higuchi,
    • K Ohmori,
    • F Ohtsuki,
    • S Takakura,
    • T Itabashi,
    • Y Wada,
    • M Akimoto,
    • S Ooto,
    • T Suzuki,
    • Y Hirami,
    • H Ikeda,
    • N Kawagoe,
    • A Oishi,
    • S Ichiyama,
    • M Takahashi,
    • N Yoshimura,
    • and S Kosugi
    2008 45:465-472

  • Dentin phosphoprotein frameshift mutations in hereditary dentin disorders and their variation patterns in normal human population

    • Y L Song,
    • C N Wang,
    • M W Fan,
    • B Su,
    • and Z Bian
    2008 45:457-464

  • Genome-wide linkage scan for loci of musical aptitude in Finnish families: evidence for a major locus at 4q22

    • K Pulli,
    • K Karma,
    • R Norio,
    • P Sistonen,
    • H H H Göring,
    • and I Järvelä
    2008 45:451-456

  • High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation

    • F S Jehee,
    • A C V Krepischi-Santos,
    • K M Rocha,
    • D P Cavalcanti,
    • C A Kim,
    • D R Bertola,
    • L G Alonso,
    • C S D’Angelo,
    • J F Mazzeu,
    • G Froyen,
    • D Lugtenberg,
    • A M Vianna-Morgante,
    • C Rosenberg,
    • and M R Passos-Bueno
    2008 45:447-450

  • Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene

    • C Bonnet,
    • S Krieger,
    • M Vezain,
    • A Rousselin,
    • I Tournier,
    • A Martins,
    • P Berthet,
    • A Chevrier,
    • C Dugast,
    • V Layet,
    • A Rossi,
    • R Lidereau,
    • T Frébourg,
    • A Hardouin,
    • and M Tosi
    2008 45:438-446

  • Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes

    • S Monfort,
    • M Roselló,
    • C Orellana,
    • S Oltra,
    • D Blesa,
    • K Kok,
    • I Ferrer,
    • J C Cigudosa,
    • and F Martínez
    2008 45:432-437

  • Identification of a 2244 base pair interstitial deletion within the human ESR1 gene in the Spanish population

    • J Jorge Galan,
    • B Buch,
    • S Pedrinaci,
    • P Jimenez-Gamiz,
    • A Gonzalez,
    • M Serrano-Rios,
    • A Salinas,
    • M del Carmen Rivero,
    • L M Real,
    • J L Royo,
    • and A Ruiz
    2008 45:420-424

  • Heterogeneity in the processing defect of SLC26A4 mutants

    • J S Yoon,
    • H-J Park,
    • S-Y Yoo,
    • W Namkung,
    • M J Jo,
    • S K Koo,
    • H-Y Park,
    • W-S Lee,
    • K H Kim,
    • and M G Lee
    2008 45:411-419

  • Identification of a novel PEX14 mutation in Zellweger syndrome

    • S J Huybrechts,
    • P P Van Veldhoven,
    • I Hoffman,
    • R Zeevaert,
    • R de Vos,
    • P Demaerel,
    • M Brams,
    • J Jaeken,
    • M Fransen,
    • and D Cassiman
    2008 45:376-383

  • A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome

    • E Klopocki,
    • C-E Ott,
    • N Benatar,
    • R Ullmann,
    • S Mundlos,
    • and K Lehmann
    2008 45:370-375

  • Comparison of X-chromosome inactivation patterns in multiple tissues from human females

    • D C Bittel,
    • M F Theodoro,
    • N Kibiryeva,
    • W Fischer,
    • Z Talebizadeh,
    • and M G Butler
    2008 45:309-313

  • Comparison of targeted and whole genome analysis of postnatal specimens using a commercially available array based comparative genomic hybridisation (aCGH) microarray platform

    • E Aston,
    • H Whitby,
    • T Maxwell,
    • N Glaus,
    • B Cowley,
    • D Lowry,
    • X L Zhu,
    • B Issa,
    • S T South,
    • and A R Brothman
    2008 45:268-274

  • Myosin IXB gene region and gluten intolerance: linkage to coeliac disease and a putative dermatitis herpetiformis association

    • L L E Koskinen,
    • I R Korponay-Szabo,
    • K Viiri,
    • K Juuti-Uusitalo,
    • K Kaukinen,
    • K Lindfors,
    • K Mustalahti,
    • K Kurppa,
    • R Ádány,
    • Z Pocsai,
    • G Széles,
    • E Einarsdottir,
    • C Wijmenga,
    • M Mäki,
    • J Partanen,
    • J Kere,
    • and P Saavalainen
    2008 45:222-227

  • Genetic risk for myocardial infarction determined by polymorphisms of candidate genes in a Japanese population

    • Y Yamada,
    • K Kato,
    • M Oguri,
    • T Fujimaki,
    • K Yokoi,
    • H Matsuo,
    • S Watanabe,
    • N Metoki,
    • H Yoshida,
    • K Satoh,
    • S Ichihara,
    • Y Aoyagi,
    • A Yasunaga,
    • H Park,
    • M Tanaka,
    • and Y Nozawa
    2008 45:216-221

  • Isolated cytochrome c oxidase deficiency as a cause of MELAS

    • W Rossmanith,
    • M Freilinger,
    • J Roka,
    • T Raffelsberger,
    • K Moser-Thier,
    • D Prayer,
    • G Bernert,
    • and R E Bittner
    2008 45:117-121

  • Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation

    • R H Scott,
    • J Douglas,
    • L Baskcomb,
    • A O Nygren,
    • J M Birch,
    • T R Cole,
    • V Cormier-Daire,
    • D M Eastwood,
    • S Garcia-Minaur,
    • P Lupunzina,
    • K Tatton-Brown,
    • J Bliek,
    • E R Maher,
    • and N Rahman
    2008 45:106-113

  • Assignment of two loci for autosomal dominant adolescent idiopathic scoliosis to chromosomes 9q31.2-q34.2 and 17q25.3-qtel

    • L Ocaka,
    • C Zhao,
    • J A Reed,
    • N D Ebenezer,
    • G Brice,
    • T Morley,
    • M Mehta,
    • J O’Dowd,
    • J L Weber,
    • A J Hardcastle,
    • and A H Child
    2008 45:87-92

  • Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation

    • K Osoegawa,
    • G M Vessere,
    • K H Utami,
    • M A Mansilla,
    • M K Johnson,
    • B M Riley,
    • J L’Heureux,
    • R Pfundt,
    • J Staaf,
    • W A van der Vliet,
    • A C Lidral,
    • E F P M Schoenmakers,
    • A Borg,
    • B C Schutte,
    • E J Lammer,
    • J C Murray,
    • and P J de Jong
    2008 45:81-86

  • General mutation databases: analysis and review

    • R A George,
    • T D Smith,
    • S Callaghan,
    • L Hardman,
    • C Pierides,
    • O Horaitis,
    • M A Wouters,
    • and R G H Cotton
    2008 45:65-70

  • Genetic risk for metabolic syndrome: examination of candidate gene polymorphisms related to lipid metabolism in Japanese people

    • Y Yamada,
    • S Ichihara,
    • K Kato,
    • T Yoshida,
    • K Yokoi,
    • H Matsuo,
    • S Watanabe,
    • N Metoki,
    • H Yoshida,
    • K Satoh,
    • Y Aoyagi,
    • A Yasunaga,
    • H Park,
    • M Tanaka,
    • W Lee,
    • and Y Nozawa
    2008 45:22-28

  • Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification

    • A De Luca,
    • I Bottillo,
    • M C Dasdia,
    • A Morella,
    • V Lanari,
    • L Bernardini,
    • L Divona,
    • S Giustini,
    • L Sinibaldi,
    • A Novelli,
    • I Torrente,
    • A Schirinzi,
    • and B Dallapiccola
    2007 44:800-808

  • Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion

    • Veronica van Heyningen,
    • Jan M N Hoovers,
    • Jan de Kraker,
    • and John A Crolla
    2007 44:787-790

  • Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients

    • M De Gregori,
    • R Ciccone,
    • P Magini,
    • T Pramparo,
    • S Gimelli,
    • J Messa,
    • F Novara,
    • A Vetro,
    • E Rossi,
    • P Maraschio,
    • M C Bonaglia,
    • C Anichini,
    • G B Ferrero,
    • M Silengo,
    • E Fazzi,
    • A Zatterale,
    • R Fischetto,
    • C Previderé,
    • S Belli,
    • A Turci,
    • G Calabrese,
    • F Bernardi,
    • E Meneghelli,
    • M Riegel,
    • M Rocchi,
    • S Guerneri,
    • F Lalatta,
    • L Zelante,
    • C Romano,
    • M Fichera,
    • T Mattina,
    • G Arrigo,
    • M Zollino,
    • S Giglio,
    • F Lonardo,
    • A Bonfante,
    • A Ferlini,
    • F Cifuentes,
    • H Van Esch,
    • L Backx,
    • A Schinzel,
    • J R Vermeesch,
    • and O Zuffardi
    2007 44:750-762

  • Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature

    • M Carlson,
    • and M Silberbach
    2007 44:745-749

  • Factors associated with HD CAG repeat instability in Huntington disease

    • V C Wheeler,
    • F Persichetti,
    • S M McNeil,
    • J S Mysore,
    • S S Mysore,
    • M E MacDonald,
    • R H Myers,
    • J F Gusella,
    • N S Wexler,
    • and The US–Venezuela Collaborative Research Group
    2007 44:695-701

  • SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

    • Martin Zenker,
    • Denise Horn,
    • Dagmar Wieczorek,
    • Judith Allanson,
    • Silke Pauli,
    • Ineke van der Burgt,
    • Helmuth-Guenther Doerr,
    • Harald Gaspar,
    • Michael Hofbeck,
    • Gabriele Gillessen-Kaesbach,
    • Andreas Koch,
    • Peter Meinecke,
    • Stefan Mundlos,
    • Anja Nowka,
    • Anita Rauch,
    • Silke Reif,
    • Christian von Schnakenburg,
    • Heide Seidel,
    • Lars-Erik Wehner,
    • Christiane Zweier,
    • Susanne Bauhuber,
    • Verena Matejas,
    • Christian P Kratz,
    • Christoph Thomas,
    • and Kerstin Kutsche
    2007 44:651-656

  • Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14

    • I K Temple,
    • V Shrubb,
    • M Lever,
    • H Bullman,
    • and D J G Mackay
    2007 44:637-640

  • Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

    • Ellen G Pfendner,
    • Olivier M Vanakker,
    • Sharon F Terry,
    • Sophia Vourthis,
    • Patricia E McAndrew,
    • Monica R McClain,
    • Sarah Fratta,
    • Anna-Susan Marais,
    • Susan Hariri,
    • Paul J Coucke,
    • Michele Ramsay,
    • Denis Viljoen,
    • Patrick F Terry,
    • Anne De Paepe,
    • Jouni Uitto,
    • and Lionel G Bercovitch
    2007 44:621-628

  • 2007 44:609-e91

  • Contribution of the N-acetyltransferase 2 polymorphism NAT2*6A to age-related hearing impairment

    • E Van Eyken,
    • G Van Camp,
    • E Fransen,
    • V Topsakal,
    • J J Hendrickx,
    • K Demeester,
    • P Van de Heyning,
    • E Mäki-Torkko,
    • S Hannula,
    • M Sorri,
    • M Jensen,
    • A Parving,
    • M Bille,
    • M Baur,
    • M Pfister,
    • A Bonaconsa,
    • M Mazzoli,
    • E Orzan,
    • A Espeso,
    • D Stephens,
    • K Verbruggen,
    • J Huyghe,
    • I Dhooge,
    • P Huygen,
    • H Kremer,
    • C W R J Cremers,
    • S Kunst,
    • M Manninen,
    • I Pyykkö,
    • A Lacava,
    • M Steffens,
    • T F Wienker,
    • and L Van Laer
    2007 44:570-578

  • The C20orf133 gene is disrupted in a patient with Kabuki syndrome

    • Nicole M C Maas,
    • Tom Van de Putte,
    • Cindy Melotte,
    • Annick Francis,
    • Constance T R M Schrander-Stumpel,
    • Damien Sanlaville,
    • David Genevieve,
    • Stanislas Lyonnet,
    • Boyan Dimitrov,
    • Koenraad Devriendt,
    • Jean-Pierre Fryns,
    • and Joris R Vermeesch
    2007 44:562-569

  • Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children

    • Farah Zahir,
    • Helen V Firth,
    • Agnes Baross,
    • Allen D Delaney,
    • Patrice Eydoux,
    • William T Gibson,
    • Sylvie Langlois,
    • Howard Martin,
    • Lionel Willatt,
    • Marco A Marra,
    • and Jan M Friedman
    2007 44:556-561

  • Genotype–phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions

    • J Andrieux,
    • C Villenet,
    • S Quief,
    • S Lignon,
    • S Geffroy,
    • C Roumier,
    • H de Leersnyder,
    • M-C de Blois,
    • S Manouvrier,
    • B Delobel,
    • B Benzacken,
    • P Bitoun,
    • T Attie-Bitach,
    • S Thomas,
    • S Lyonnet,
    • M Vekemans,
    • and J-P Kerckaert
    2007 44:537-540

  • Association of arginase 1 gene polymorphisms with the risk of myocardial infarction and common carotid intima–media thickness

    • Julie Dumont,
    • Mahmoud Zureik,
    • Dominique Cottel,
    • Michèle Montaye,
    • Pierre Ducimetière,
    • Philippe Amouyel,
    • and Thierry Brousseau
    2007 44:526-531

  • Biallelic mutation of MSH2 in primary human cells is associated with sensitivity to irradiation and altered RAD51 foci kinetics

    • J Barwell,
    • L Pangon,
    • S Hodgson,
    • A Georgiou,
    • I Kesterton,
    • T Slade,
    • M Taylor,
    • S J Payne,
    • H Brinkman,
    • J Smythe,
    • N J Sebire,
    • E Solomon,
    • Z Docherty,
    • R Camplejohn,
    • T Homfray,
    • and J R Morris
    2007 44:516-520

  • The novel IFNGR1 mutation 774del4 produces a truncated form of interferon-{gamma} receptor 1 and has a dominant-negative effect on interferon-{gamma} signal transduction

    • Satoshi Okada,
    • Nobutsune Ishikawa,
    • Ken’ichiro Shirao,
    • Hiroshi Kawaguchi,
    • Miyuki Tsumura,
    • Yoshinori Ohno,
    • Shin’ichiro Yasunaga,
    • Motoaki Ohtsubo,
    • Yoshihiro Takihara,
    • and Masao Kobayashi
    2007 44:485-491

  • Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation

    • Ineke van der Burgt,
    • William Kupsky,
    • Stephani Stassou,
    • Ali Nadroo,
    • Cândida Barroso,
    • Angelika Diem,
    • Christian P Kratz,
    • Radovan Dvorsky,
    • Mohammad Reza Ahmadian,
    • and Martin Zenker
    2007 44:459-462

  • Autism, language delay and mental retardation in a patient with 7q11 duplication

    • C Depienne,
    • D Heron,
    • C Betancur,
    • B Benyahia,
    • O Trouillard,
    • D Bouteiller,
    • A Verloes,
    • E LeGuern,
    • M Leboyer,
    • and A Brice
    2007 44:452-458

  • Analysis of sex chromosome abnormalities using X and Y chromosome DNA tiling path arrays

    • A C Karcanias,
    • K Ichimura,
    • M J Mitchell,
    • C A Sargent,
    • and N A Affara
    2007 44:429-436

  • A hexanucleotide repeat upstream of eotaxin gene promoter is associated with asthma, serum total IgE and plasma eotaxin levels

    • Jyotsna Batra,
    • Reenu Rajpoot,
    • Jasmine Ahluwalia,
    • Satish K Devarapu,
    • Surendra K Sharma,
    • Amit K Dinda,
    • and Balaram Ghosh
    2007 44:397-403

  • Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

    • Linda P Jakobsen,
    • Reinhard Ullmann,
    • Steen B Christensen,
    • Karl Erik Jensen,
    • Kirsten Mølsted,
    • Karen F Henriksen,
    • Claus Hansen,
    • Mary A Knudsen,
    • Lars A Larsen,
    • Niels Tommerup,
    • and Zeynep Tümer
    2007 44:381-386

  • Genetic enhancement of cognition in a kindred with cone–rod dystrophy due to RIMS1 mutation

    • Sanjay M Sisodiya,
    • Pamela J Thompson,
    • Anna Need,
    • Sarah E Harris,
    • Michael E Weale,
    • Susan E Wilkie,
    • Michel Michaelides,
    • Samantha L Free,
    • Nicole Walley,
    • Curtis Gumbs,
    • Dianne Gerrelli,
    • Piers Ruddle,
    • Lawrence J Whalley,
    • John M Starr,
    • David M Hunt,
    • David B Goldstein,
    • Ian J Deary,
    • and Anthony T Moore
    2007 44:373-380

  • Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy

    • Peter J Taylor,
    • Sarah Maroulis,
    • Glenda L Mullan,
    • Robyn L Pedersen,
    • Aurora Baumli,
    • George Elakis,
    • Sara Piras,
    • Corrina Walsh,
    • Benito Prósper-Gutiérrez,
    • Fernando De La Puente-Alonso,
    • Christopher G Bell,
    • David R Mowat,
    • Heather M Johnston,
    • and Michael F Buckley
    2007 44:368-372

  • FRA18C: a new aphidicolin-inducible fragile site on chromosome 18q22, possibly associated with in vivo chromosome breakage

    • Kim Debacker,
    • Birgitta Winnepenninckx,
    • Neta Ben-Porat,
    • David FitzPatrick,
    • Rob Van Luijk,
    • Stefaan Scheers,
    • Batsheva Kerem,
    • and R Frank Kooy
    2007 44:347-352

  • The human GIMAP5 gene has a common polyadenylation polymorphism increasing risk to systemic lupus erythematosus

    • Anna Hellquist,
    • Marco Zucchelli,
    • Katja Kivinen,
    • Ulpu Saarialho-Kere,
    • Sari Koskenmies,
    • Elisabeth Widen,
    • Heikki Julkunen,
    • Andrew Wong,
    • Marja-Liisa Karjalainen-Lindsberg,
    • Tiina Skoog,
    • Johanna Vendelin,
    • Deborah S Cunninghame-Graham,
    • Timothy J Vyse,
    • Juha Kere,
    • and Cecilia M Lindgren
    2007 44:314-321

  • New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy

    • D Marchant,
    • K Yu,
    • K Bigot,
    • O Roche,
    • A Germain,
    • D Bonneau,
    • V Drouin-Garraud,
    • D F Schorderet,
    • F Munier,
    • D Schmidt,
    • P Le Neindre,
    • C Marsac,
    • M Menasche,
    • J L Dufier,
    • R Fischmeister,
    • C Hartzell,
    • and M Abitbol
    2007 44:e70

  • Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinaemia

    • Enza Di Leo,
    • Lucia Magnolo,
    • Sandra Lancellotti,
    • Lory Crocè,
    • Luca Visintin,
    • Claudio Tiribelli,
    • Stefano Bertolini,
    • Sebastiano Calandra,
    • and Patrizia Tarugi
    2007 44:219-224

  • Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes

    • Roslyn Varki,
    • Sara Sadowski,
    • Jouni Uitto,
    • and Ellen Pfendner
    2007 44:181-192

  • Development of a genotyping microarray for Usher syndrome

    • Frans P M Cremers,
    • William J Kimberling,
    • Maigi Külm,
    • Arjan P de Brouwer,
    • Erwin van Wijk,
    • Heleen te Brinke,
    • Cor W R J Cremers,
    • Lies H Hoefsloot,
    • Sandro Banfi,
    • Francesca Simonelli,
    • Johannes C Fleischhauer,
    • Wolfgang Berger,
    • Phil M Kelley,
    • Elene Haralambous,
    • Maria Bitner-Glindzicz,
    • Andrew R Webster,
    • Zubin Saihan,
    • Elfride De Baere,
    • Bart P Leroy,
    • Giuliana Silvestri,
    • Gareth J McKay,
    • Robert K Koenekoop,
    • Jose M Millan,
    • Thomas Rosenberg,
    • Tarja Joensuu,
    • Eeva-Marja Sankila,
    • Dominique Weil,
    • Mike D Weston,
    • Bernd Wissinger,
    • and Hannie Kremer
    2007 44:153-160

  • An atypical deletion of the Williams–Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism

    • Lisa Edelmann,
    • Aaron Prosnitz,
    • Sherly Pardo,
    • Jahnavi Bhatt,
    • Ninette Cohen,
    • Tara Lauriat,
    • Leonid Ouchanov,
    • Patricia J González,
    • Elina R Manghi,
    • Pamela Bondy,
    • Marcela Esquivel,
    • Silvia Monge,
    • Marietha F Delgado,
    • Alessandra Splendore,
    • Uta Francke,
    • Barbara K Burton,
    • and L Alison McInnes
    2007 44:136-143

  • Associations of catalase gene polymorphisms with bone mineral density and bone turnover markers in postmenopausal women

    • Bermseok Oh,
    • Shin-Yoon Kim,
    • Duk Jae Kim,
    • Jong Yong Lee,
    • Jong-Keuk Lee,
    • Kuchan Kimm,
    • Byung Lae Park,
    • Hyoung Doo Shin,
    • Tae-Ho Kim,
    • Eui Kyun Park,
    • Jung-Min Koh,
    • and Ghi Su Kim
    2007 44:e62

  • 13q Deletion and central nervous system anomalies: further insights from karyotype–phenotype analyses of 14 patients

    • Lucia Ballarati,
    • Elena Rossi,
    • Maria Teresa Bonati,
    • Stefania Gimelli,
    • Paola Maraschio,
    • Palma Finelli,
    • Sabrina Giglio,
    • Elisabetta Lapi,
    • Maria Francesca Bedeschi,
    • Silvana Guerneri,
    • Giulia Arrigo,
    • Maria Grazia Patricelli,
    • Teresa Mattina,
    • Oriana Guzzardi,
    • Vanna Pecile,
    • Adalgisa Police,
    • Gioacchino Scarano,
    • Lidia Larizza,
    • Orsetta Zuffardi,
    • and Daniela Giardino
    2007 44:e60

  • Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening

    • A Smith,
    • A Moran,
    • M C Boyd,
    • M Bulman,
    • A Shenton,
    • L Smith,
    • R Iddenden,
    • E R Woodward,
    • F Lalloo,
    • E R Maher,
    • and D G R Evans
    2007 44:10-15

  • Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk

    • S E Humphries,
    • R A Whittall,
    • C S Hubbart,
    • S Maplebeck,
    • J A Cooper,
    • A K Soutar,
    • R Naoumova,
    • G R Thompson,
    • M Seed,
    • P N Durrington,
    • J P Miller,
    • D J B Betteridge,
    • H A W Neil,
    • and for the Simon Broome Familial Hyperlipidaemia Register Group and Scientific Steering Committee
    2006 43:943-949

  • AMP-kinase {alpha}2 subunit gene PRKAA2 variants are associated with total cholesterol, low-density lipoprotein-cholesterol and high-density lipoprotein-cholesterol in normal women

    • N J Spencer-Jones,
    • D Ge,
    • H Snieder,
    • U Perks,
    • R Swaminathan,
    • T D Spector,
    • N D Carter,
    • and S D O’Dell
    2006 43:936-942

  • CDH1/E-cadherin germline mutations in early-onset gastric cancer

    • J T Bacani,
    • M Soares,
    • R Zwingerman,
    • N di Nicola,
    • J Senz,
    • R Riddell,
    • D G Huntsman,
    • and S Gallinger
    2006 43:867-872

  • Significant association of a M129V independent polymorphism in the 5' UTR of the PRNP gene with sporadic Creutzfeldt-Jakob disease in a large German case-control study

    • C Vollmert,
    • O Windl,
    • W Xiang,
    • A Rosenberger,
    • I Zerr,
    • H-E Wichmann,
    • H Bickeböller,
    • T Illig,
    • the KORA group,
    • and H A Kretzschmar
    2006 43:e53

  • Genetic predictors for acute experimental cold and heat pain sensitivity in humans

    • H Kim,
    • D P Mittal,
    • M J Iadarola,
    • and R A Dionne
    2006 43:e40

  • Predicting disease genes using protein–protein interactions

    • M Oti,
    • B Snel,
    • M A Huynen,
    • and H G Brunner
    2006 43:691-698

  • A new locus for autosomal dominant intracranial aneurysm, ANIB4, maps to chromosome 5p15.2-14.3

    • D J Verlaan,
    • M-P Dubé,
    • J St-Onge,
    • A Noreau,
    • J Roussel,
    • N Satgé,
    • M C Wallace,
    • and G A Rouleau
    2006 43:e31

  • Evidence for susceptibility determinant(s) to psoriasis vulgaris in or near PTPN22 in German patients

    • U Hüffmeier,
    • M Steffens,
    • H Burkhardt,
    • J Lascorz,
    • F Schürmeier-Horst,
    • M Ständer,
    • R Kelsch,
    • C Baumann,
    • W Küster,
    • R Mössner,
    • K Reich,
    • T F Wienker,
    • H Traupe,
    • and A Reis
    2006 43:517-522

  • Novel locus for X linked recessive high myopia maps to Xq23–q25 but outside MYP1

    • Q Zhang,
    • X Guo,
    • X Xiao,
    • X Jia,
    • S Li,
    • and J F Hejtmancik
    2006 43:e20

  • Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p

    • S Türkmen,
    • O Demirhan,
    • K Hoffmann,
    • A Diers,
    • C Zimmer,
    • K Sperling,
    • and S Mundlos
    2006 43:461-464

  • Prenatal detection of unbalanced chromosomal rearrangements by array CGH

    • L Rickman,
    • H Fiegler,
    • C Shaw-Smith,
    • R Nash,
    • V Cirigliano,
    • G Voglino,
    • B L Ng,
    • C Scott,
    • J Whittaker,
    • M Adinolfi,
    • N P Carter,
    • and M Bobrow
    2006 43:353-361

  • CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

    • M C J Jongmans,
    • R J Admiraal,
    • K P van der Donk,
    • L E L M Vissers,
    • A F Baas,
    • L Kapusta,
    • J M van Hagen,
    • D Donnai,
    • T J de Ravel,
    • J A Veltman,
    • A Geurts van Kessel,
    • B B A De Vries,
    • H G Brunner,
    • L H Hoefsloot,
    • and C M A van Ravenswaaij
    2006 43:306-314

  • Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions

    • C Howald,
    • G Merla,
    • M C Digilio,
    • S Amenta,
    • R Lyle,
    • S Deutsch,
    • U Choudhury,
    • A Bottani,
    • S E Antonarakis,
    • H Fryssira,
    • B Dallapiccola,
    • and A Reymond
    2006 43:266-273

  • A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2

    • K W Kjaer,
    • H Eiberg,
    • L Hansen,
    • C B van der Hagen,
    • K Rosendahl,
    • N Tommerup,
    • and S Mundlos
    2006 43:225-231

  • Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development

    • D Sanlaville,
    • H C Etchevers,
    • M Gonzales,
    • J Martinovic,
    • M Clément-Ziza,
    • A-L Delezoide,
    • M-C Aubry,
    • A Pelet,
    • S Chemouny,
    • C Cruaud,
    • S Audollent,
    • C Esculpavit,
    • G Goudefroye,
    • C Ozilou,
    • C Fredouille,
    • N Joye,
    • N Morichon-Delvallez,
    • Y Dumez,
    • J Weissenbach,
    • A Munnich,
    • J Amiel,
    • F Encha-Razavi,
    • S Lyonnet,
    • M Vekemans,
    • and T Attié-Bitach
    2006 43:211-317

  • Survivin-directed RNA interference cocktail is a potent suppressor of tumour growth in vivo

    • H Caldas,
    • M P Holloway,
    • B M Hall,
    • S J Qualman,
    • and R A Altura
    2006 43:119-128

  • Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes

    • G J Pazour,
    • N Agrin,
    • B L Walker,
    • and G B Witman
    2006 43:62-73

  • Analysis of RUNX1 binding site and RAPTOR polymorphisms in psoriasis: no evidence for association despite adequate power and evidence for linkage

    • P Stuart,
    • R P Nair,
    • G R Abecasis,
    • I Nistor,
    • R Hiremagalore,
    • N V Chia,
    • Z S Qin,
    • R A Thompson,
    • S Jenisch,
    • M Weichenthal,
    • J Janiga,
    • H W Lim,
    • E Christophers,
    • J J Voorhees,
    • and J T Elder
    2006 43:12-17

  • Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder

    • E Kinning,
    • C Tufarelli,
    • W S Winship,
    • M A Aldred,
    • and R C Trembath
    2005 42:e70

  • CORRECTION 2005 42:952

  • Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype

    • U Moog,
    • M C Jones,
    • L M Bird,
    • and W B Dobyns
    2005 42:913-921

  • Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD)

    • C Bergmann,
    • F Küpper,
    • C P Schmitt,
    • U Vester,
    • T J Neuhaus,
    • J Senderek,
    • and K Zerres
    2005 42:e63

  • Matrilin-3 mutations that cause chondrodysplasias interfere with protein trafficking while a mutation associated with hand osteoarthritis does not

    • C Otten,
    • R Wagener,
    • M Paulsson,
    • and F Zaucke
    2005 42:774-779

  • Cancer risks in BRCA2 families: estimates for sites other than breast and ovary

    • C J van Asperen,
    • R M Brohet,
    • E J Meijers-Heijboer,
    • N Hoogerbrugge,
    • S Verhoef,
    • H F A Vasen,
    • M G E M Ausems,
    • F H Menko,
    • E B Gomez Garcia,
    • J G M Klijn,
    • F B L Hogervorst,
    • J C van Houwelingen,
    • L J van’t Veer,
    • M A Rookus,
    • F E van Leeuwen,
    • and on behalf of the Netherlands Collaborative Group on Hereditary Breast Cancer (HEBON)
    2005 42:711-719

  • Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans

    • H Sun,
    • Z Ma,
    • Y Li,
    • B Liu,
    • Z Li,
    • X Ding,
    • Y Gao,
    • W Ma,
    • X Tang,
    • X Li,
    • and Y Shen
    2005 42:706-710

  • In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients

    • N Sylvius,
    • Z T Bilinska,
    • J P Veinot,
    • A Fidzianska,
    • P M Bolongo,
    • S Poon,
    • P McKeown,
    • R A Davies,
    • K-L Chan,
    • A S L Tang,
    • S Dyack,
    • J Grzybowski,
    • W Ruzyllo,
    • H McBride,
    • and F Tesson
    2005 42:639-647

  • Identification and characterization of missense alterations in the BRCA1 associated RING domain (BARD1) gene in breast and ovarian cancer

    • M K Sauer,
    • and I L Andrulis
    2005 42:633-638

  • Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families

    • C Ziviello,
    • F Simonelli,
    • F Testa,
    • M Anastasi,
    • S B Marzoli,
    • B Falsini,
    • D Ghiglione,
    • C Macaluso,
    • M P Manitto,
    • C Garrè,
    • A Ciccodicola,
    • E Rinaldi,
    • and S Banfi
    2005 42:e47

  • Association of a COL1A1 polymorphism with lumbar disc disease in young military recruits

    • C Tilkeridis,
    • T Bei,
    • S Garantziotis,
    • and C A Stratakis
    2005 42:e44

  • Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)

    • P J Ferguson,
    • S Chen,
    • M K Tayeh,
    • L Ochoa,
    • S M Leal,
    • A Pelet,
    • A Munnich,
    • S Lyonnet,
    • H A Majeed,
    • and H El-Shanti
    2005 42:551-557

  • The gr/gr deletion(s): a new genetic test in male infertility?

    • C Giachini,
    • E Guarducci,
    • G Longepied,
    • S Degl’Innocenti,
    • L Becherini,
    • G Forti,
    • M J Mitchell,
    • and C Krausz
    2005 42:497-502

  • Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment

    • F Quehenberger,
    • H F A Vasen,
    • and H C van Houwelingen
    2005 42:491-496

  • Murine candidate bleomycin induced pulmonary fibrosis susceptibility genes identified by gene expression and sequence analysis of linkage regions

    • C K Haston,
    • T G Tomko,
    • N Godin,
    • L Kerckhoff,
    • and M T Hallett
    2005 42:464-473

  • Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency

    • M Bugiani,
    • V Tiranti,
    • L Farina,
    • G Uziel,
    • and M Zeviani
    2005 42:e28

  • STK11 genotyping and cancer risk in Peutz-Jeghers syndrome

    • V Schumacher,
    • T Vogel,
    • B Leube,
    • C Driemel,
    • T Goecke,
    • G Möslein,
    • and B Royer-Pokora
    2005 42:428-435

  • A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter

    • T Tukel,
    • A Uzumcu,
    • A Gezer,
    • H Kayserili,
    • M Yuksel-Apak,
    • O Uyguner,
    • S H Gultekin,
    • H-C Hennies,
    • P Nurnberg,
    • R J Desnick,
    • and B Wollnik
    2005 42:408-415

  • Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts

    • A M Sharp,
    • L M Messiaen,
    • G Page,
    • C Antignac,
    • M-C Gubler,
    • L F Onuchic,
    • S Somlo,
    • G G Germino,
    • and L M Guay-Woodford
    2005 42:336-349

  • Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome?

    • R Redon,
    • M Rio,
    • S G Gregory,
    • R A Cooper,
    • H Fiegler,
    • D Sanlaville,
    • R Banerjee,
    • C Scott,
    • P Carr,
    • C Langford,
    • V Cormier-Daire,
    • A Munnich,
    • N P Carter,
    • and L Colleaux
    2005 42:166-171

  • Mapping of psoriasis to 17q terminus

    • W-L Hwu,
    • C-F Yang,
    • C S J Fann,
    • C-L Chen,
    • T-F Tsai,
    • Y-H Chien,
    • S-C Chiang,
    • C-H Chen,
    • S-I Hung,
    • J-Y Wu,
    • and Y-T Chen
    2005 42:152-158

  • Classification of BRCA1 missense variants of unknown clinical significance

    • C M Phelan,
    • V Dapic,
    • B Tice,
    • R Favis,
    • E Kwan,
    • F Barany,
    • S Manoukian,
    • P Radice,
    • R B van der Luijt,
    • B P M van Nesselrooij,
    • G Chenevix-Trench,
    • kConFab,
    • T Caldes,
    • M de La Hoya,
    • S Lindquist,
    • S V Tavtigian,
    • D Goldgar,
    • Å Borg,
    • S A Narod,
    • and A N A Monteiro
    2005 42:138-146

  • Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects

    • J A Lamb,
    • G Barnby,
    • E Bonora,
    • N Sykes,
    • E Bacchelli,
    • F Blasi,
    • E Maestrini,
    • J Broxholme,
    • J Tzenova,
    • D Weeks,
    • A J Bailey,
    • A P Monaco,
    • and the International Molecular Genetic Study of Autism Consortium (IMGSAC)
    2005 42:132-137

  • Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations

    • C Le Caignec,
    • M Boceno,
    • P Saugier-Veber,
    • S Jacquemont,
    • M Joubert,
    • A David,
    • T Frebourg,
    • and J M Rival
    2005 42:121-128

  • Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy

    • A K Lampe,
    • D M Dunn,
    • A C von Niederhausern,
    • C Hamil,
    • A Aoyagi,
    • S H Laval,
    • S K Marie,
    • M-L Chu,
    • K Swoboda,
    • F Muntoni,
    • C G Bonnemann,
    • K M Flanigan,
    • K M D Bushby,
    • and R B Weiss
    2005 42:108-120

  • New insights into cystinuria: 40 new mutations, genotype–phenotype correlation, and digenic inheritance causing partial phenotype

    • M Font-Llitjós,
    • M Jiménez-Vidal,
    • L Bisceglia,
    • M Di Perna,
    • L de Sanctis,
    • F Rousaud,
    • L Zelante,
    • M Palacín,
    • and V Nunes
    2005 42:58-68

  • Genetics of the FANCA gene in familial pancreatic cancer

    • C D Rogers,
    • F J Couch,
    • K Brune,
    • S T Martin,
    • J Philips,
    • K M Murphy,
    • G Petersen,
    • C J Yeo,
    • R H Hruban,
    • and M Goggins
    2004 41:e126

  • SCAMP: a spreadsheet to collate autozygosity mapping projects

    • T Forshew,
    • and C A Johnson
    2004 41:e125

  • Attenuation of an amino-terminal premature stop codon mutation in the ATRX gene by an alternative mode of translational initiation

    • M T Howard,
    • N Malik,
    • C B Anderson,
    • J L A Voskuil,
    • J F Atkins,
    • and R J Gibbons
    2004 41:951-956

  • Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis

    • F Niel,
    • J Martin,
    • F Dastot-Le Moal,
    • B Costes,
    • B Boissier,
    • V Delattre,
    • M Goossens,
    • and E Girodon
    2004 41:e118

  • Recent advances in understanding haemochromatosis: a transition state

    • K J H Robson,
    • A T Merryweather-Clarke,
    • E Cadet,
    • V Viprakasit,
    • M G Zaahl,
    • J J Pointon,
    • D J Weatherall,
    • and J Rochette
    2004 41:721-730
    [F2]

  • A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance

    • K P Burdon,
    • M G Wirth,
    • D A Mackey,
    • I M Russell-Eggitt,
    • J E Craig,
    • J E Elder,
    • J L Dickinson,
    • and M M Sale
    2004 41:e106

  • A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood

    • M T Bassi,
    • N Bresolin,
    • A Tonelli,
    • K Nazos,
    • F Crippa,
    • C Baschirotto,
    • C Zucca,
    • A Bersano,
    • D Dolcetta,
    • F M Boneschi,
    • V Barone,
    • and G Casari
    2004 41:621-628

  • Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss

    • R Li,
    • J H Greinwald Jr,
    • L Yang,
    • D I Choo,
    • R J Wenstrup,
    • and M-X Guan
    2004 41:615-620

  • Positive association of the DIO2 (deiodinase type 2) gene with mental retardation in the iodine-deficient areas of China

    • T-W Guo,
    • F-C Zhang,
    • M-S Yang,
    • X-C Gao,
    • L Bian,
    • S-W Duan,
    • Z-J Zheng,
    • J-J Gao,
    • H Wang,
    • R-L Li,
    • G-Y Feng,
    • D St Clair,
    • and L He
    2004 41:585-590

  • Novel splicing associations of hereditary colon cancer related DNA mismatch repair gene mutations

    • E Renkonen,
    • H Lohi,
    • H J Järvinen,
    • J-P Mecklin,
    • and P Peltomäki
    2004 41:e95

  • Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes

    • M A Aldred,
    • R O C Sanford,
    • N S Thomas,
    • M A Barrow,
    • L C Wilson,
    • L A Brueton,
    • M C Bonaglia,
    • R C M Hennekam,
    • C Eng,
    • N R Dennis,
    • and R C Trembath
    2004 41:433-439

  • Large scale association analysis for identification of genes underlying premature coronary heart disease: cumulative perspective from analysis of 111 candidate genes

    • J J McCarthy,
    • A Parker,
    • R Salem,
    • D J Moliterno,
    • Q Wang,
    • E F Plow,
    • S Rao,
    • G Shen,
    • W J Rogers,
    • L K Newby,
    • R Cannata,
    • K Glatt,
    • and E J Topol
    2004 41:334-341

  • 2003 40:118-863

  • A twofold increase in BRCA mutation related prostate cancer among Ashkenazi Israelis is not associated with distinctive histopathology

    • R M Giusti,
    • J L Rutter,
    • P H Duray,
    • L S Freedman,
    • M Konichezky,
    • J Fisher-Fischbein,
    • M H Greene,
    • B Maslansky,
    • A Fischbein,
    • S B Gruber,
    • G Rennert,
    • R D Ronchetti,
    • S M Hewitt,
    • J P Struewing,
    • and J Iscovich
    2003 40:787-792

  • Genotype-phenotype correlations for cataracts in neurofibromatosis 2

    • M E Baser,
    • L Kuramoto,
    • H Joe,
    • J M Friedman,
    • A J Wallace,
    • R T Ramsden,
    • and D G R Evans
    2003 40:758-760

  • Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype

    • M G de Silva,
    • K Elliott,
    • H-H Dahl,
    • E Fitzpatrick,
    • S Wilcox,
    • M Delatycki,
    • R Williamson,
    • D Efron,
    • M Lynch,
    • and S Forrest
    2003 40:733-740

  • HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours

    • V M Howell,
    • C J Haven,
    • K Kahnoski,
    • S K Khoo,
    • D Petillo,
    • J Chen,
    • G J Fleuren,
    • B G Robinson,
    • L W Delbridge,
    • J Philips,
    • A E Nelson,
    • U Krause,
    • K Hammje,
    • H Dralle,
    • C Hoang-Vu,
    • O Gimm,
    • D J Marsh,
    • H Morreau,
    • and B T Teh
    2003 40:657-663

  • Demographic and phenotypic features of 70 families segregating Barrett’s oesophagus and oesophageal adenocarcinoma

    • C M Drovdlic,
    • K A B Goddard,
    • A Chak,
    • W Brock,
    • L Chessler,
    • J F King,
    • J Richter,
    • G W Falk,
    • D K Johnston,
    • J L Fisher,
    • W M Grady,
    • S Lemeshow,
    • and C Eng
    2003 40:651-656

  • 2003 40:106-720

  • Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide

    • B Wilcken,
    • F Bamforth,
    • Z Li,
    • H Zhu,
    • A Ritvanen,
    • M Redlund,
    • C Stoll,
    • Y Alembik,
    • B Dott,
    • A E Czeizel,
    • Z Gelman-Kohan,
    • G Scarano,
    • S Bianca,
    • G Ettore,
    • R Tenconi,
    • S Bellato,
    • I Scala,
    • O M Mutchinick,
    • M A López,
    • H de Walle,
    • R Hofstra,
    • L Joutchenko,
    • L Kavteladze,
    • E Bermejo,
    • M L Martínez-Frías,
    • M Gallagher,
    • J D Erickson,
    • S E Vollset,
    • P Mastroiacovo,
    • G Andria,
    • and L D Botto
    2003 40:619-625

  • Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene

    • M Herasse,
    • M Spentchian,
    • A Taillandier,
    • K Keppler-Noreuil,
    • A N M Fliorito,
    • J Bergoffen,
    • R Wallerstein,
    • C Muti,
    • B Simon-Bouy,
    • and E Mornet
    2003 40:605-609

  • High frequency of T9 and CFTR mutations in children with idiopathic bronchiectasis

    • V N Ninis,
    • M O Kylynç,
    • M Kandemir,
    • E Daðly,
    • and A Tolun
    2003 40:530-535

  • A unique form of hypodontia seen in Vietnamese patients: cinical and molecular analysis

    • S A Frazier-Bowers,
    • K Y Pham,
    • E V Le,
    • A C Cavender,
    • H Kapadia,
    • T M King,
    • D M Milewicz,
    • and R N D'Souza
    2003 40:e79

  • Haplotype analysis of distantly related populations implicates corneodesmosin in psoriasis susceptibility

    • F Capon,
    • I K Toal,
    • J C Evans,
    • M H Allen,
    • S Patel,
    • D Tillman,
    • D Burden,
    • J N W N Barker,
    • and R C Trembath
    2003 40:447-452

  • Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate

    • P A Jezewski,
    • A R Vieira,
    • C Nishimura,
    • B Ludwig,
    • M Johnson,
    • S E O’Brien,
    • S Daack-Hirsch,
    • R E Schultz,
    • A Weber,
    • B Nepomucena,
    • P A Romitti,
    • K Christensen,
    • I M Orioli,
    • E E Castilla,
    • J Machida,
    • N Natsume,
    • and J C Murray
    2003 40:399-407

  • The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver-Russell syndrome

    • L Bentley,
    • K Nakabayashi,
    • D Monk,
    • C Beechey,
    • J Peters,
    • Z Birjandi,
    • F E Khayat,
    • M Patel,
    • M A Preece,
    • P Stanier,
    • S W Scherer,
    • and G E Moore
    2003 40:249-256

  • Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness

    • H-J Park,
    • S Shaukat,
    • X-Z Liu,
    • S H Hahn,
    • S Naz,
    • M Ghosh,
    • H-N Kim,
    • S-K Moon,
    • S Abe,
    • K Tukamoto,
    • S Riazuddin,
    • M Kabra,
    • R Erdenetungalag,
    • J Radnaabazar,
    • S Khan,
    • A Pandya,
    • S-I Usami,
    • W E Nance,
    • E R Wilcox,
    • S Riazuddin,
    • and A J Griffith
    2003 40:242-248

  • Cancer risk in 348 French MSH2 or MLH1 gene carriers

    • Y Parc,
    • C Boisson,
    • G Thomas,
    • and S Olschwang
    2003 40:208-213

  • Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism

    • P J Yong,
    • I J Barrett,
    • D K Kalousek,
    • and W P Robinson
    2003 40:175-182

  • A complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome

    • J M Wheway,
    • S C Yau,
    • V Nihalani,
    • D Ellis,
    • M Irving,
    • M Splitt,
    • and R G Roberts
    2003 40:127-131

  • Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)

    • E R Maher,
    • L A Brueton,
    • S C Bowdin,
    • A Luharia,
    • W Cooper,
    • T R Cole,
    • F Macdonald,
    • J R Sampson,
    • C L Barratt,
    • W Reik,
    • and M M Hawkins
    2003 40:62-64

  • Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene

    • S Eyre,
    • P Roby,
    • K Wolstencroft,
    • K Spreckley,
    • R Aspinwall,
    • R Bayoumi,
    • L Al-Gazali,
    • R Ramesar,
    • P Beighton,
    • and G Wallis
    2002 39:634-638

  • A significant response to neoadjuvant chemotherapy in BRCA1/2 related breast cancer

    • P O Chappuis,
    • J Goffin,
    • N Wong,
    • C Perret,
    • P Ghadirian,
    • P N Tonin,
    • and W D Foulkes
    2002 39:608-610

  • Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype

    • L Faivre,
    • V Cormier-Daire,
    • J M Lapierre,
    • L Colleaux,
    • S Jacquemont,
    • D Geneviéve,
    • P Saunier,
    • A Munnich,
    • C Turleau,
    • S Romana,
    • M Prieur,
    • M C De Blois,
    • and M Vekemans
    2002 39:594-596

  • Malignant peripheral nerve sheath tumours in neurofibromatosis 1

    • D G R Evans,
    • M E Baser,
    • J McGaughran,
    • S Sharif,
    • E Howard,
    • and A Moran
    2002 39:311-314

  • An aetiological study of 25 mentally retarded adults with autism

    • C D M van Karnebeek,
    • I van Gelderen,
    • G J Nijhof,
    • N G Abeling,
    • P Vreken,
    • E J Redeker,
    • A M van Eeghen,
    • J M N Hoovers,
    • and R C M Hennekam
    2002 39:205-213

  • Triplication of several PAR1 genes and part of the Homo sapiens specific Yp11.2/Xq21.3 region of homology in a 46,X,t(X;Y)(p22.33;p11.2) male with schizophrenia

    • Norman L J Ross,
    • Jian Yang,
    • Carole A Sargent,
    • Catherine A Boucher,
    • Shinichiro Nanko,
    • Rekha Wadekar,
    • Nic A Williams,
    • Nabeel A Affara,
    • and Timothy J Crow
    2001 38:710-719

  • Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma

    • Robert B Chadwick,
    • Robert E Pyatt,
    • Theodore H Niemann,
    • Samuel K Richards,
    • Cheryl K Johnson,
    • Michael W Stevens,
    • Julie E Meek,
    • Heather Hampel,
    • Thomas W Prior,
    • and Albert de la Chapelle
    2001 38:461-466

  • Duplication of medial 15q confirmed by FISH

    • C E BROWNE,
    • E HATCHWELL,
    • A PROTOPAPOS,
    • and J RAMOS
    2000 37:e10

  • A survey of the current clinical facilities for the management of familial cancer in Europe

    • S V Hodgson,
    • M Caligo,
    • J Chang-Claude,
    • D Eccles,
    • G Evans,
    • P Møller,
    • P Morrison,
    • C M Steel,
    • and D Stoppa-Lyonnet
    2000 37:605-607

  • Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients

    • MARIAPINA MONTERA,
    • NICOLETTA RESTA,
    • CRISTIANO SIMONE,
    • GINEVRA GUANTI,
    • CRISTIANA MARCHESE,
    • SERENELLA CIVITELLI,
    • ANNA MANCINI,
    • SARAH POZZI,
    • LUIGI DE SALVO,
    • DEBORAH BRUZZONE,
    • ALESSANDRA DONADINI,
    • LEILA ROMIO,
    • and CRISTINA MARENI
    2000 37:e7

  • Genetic susceptibility to non-polyposis colorectal cancer

    • Henry T Lynch,
    • and Albert de la Chapelle
    1999 36:801-818

Free sample
This recent issue is free to all users to allow everyone the opportunity to see the full scope and typical content of JMG.
View free sample issue >>

Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.