Journal of Medical Genetics
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From the Current Issue: 46 (11); [Table of Contents]

R W Labrum, et al

Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing
J Med Genet 2009; 46(11): 786-791 [Abstract] [Full Text]  

Article supplement(s): [web only appendix]

M J Blok, et al

The unfolding clinical spectrum of POLG mutations
J Med Genet 2009; 46(11): 776-785 [Abstract] [Full Text]  

Article supplement(s): [web only appendix]

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

TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li–Fraumeni syndrome: impact on age at first diagnosis
J Med Genet 2009; 46(11): 766-772 [Abstract] [Full Text]  

Article supplement(s): [web only appendix]

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

Deregulation of EIF4E: a novel mechanism for autism
J Med Genet 2009; 46(11): 759-765 [Abstract] [Full Text]  

Article supplement(s): [web only appendix]

U Hüffmeier, et al

Characterisation of psoriasis susceptibility locus 6 (PSORS6) in patients with early onset psoriasis and evidence for interaction with PSORS1
J Med Genet 2009; 46(11): 736-744 [Abstract] [Full Text]  

Article supplement(s): [web only appendix]

D Furniss, S-h Kan, I B Taylor, D Johnson, P S Critchley, H P Giele, and A O M Wilkie

Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery
J Med Genet 2009; 46(11): 730-735 [Abstract] [Full Text]  

Article supplement(s): [web only appendix]

U Moog

Encephalocraniocutaneous lipomatosis
J Med Genet 2009; 46(11): 721-729 [Abstract] [Full Text]  

Article supplement(s): [web only appendix]

From Past Issues:

K Kanai, et al

Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity
J Med Genet 2009; 46(10): 671-679 [Abstract] [Full Text]  

Article supplement(s): [Web only appendix]

E A Otto, et al

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)
J Med Genet 2009; 46(10): 663-670 [Abstract] [Full Text]  

Article supplement(s): [Web only appendix]

J Yan, et al

Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange
J Med Genet 2009; 46(9): 626-634 [Abstract] [Full Text]  

Article supplement(s): [Web only appendicies]

G Zhai, et al

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
J Med Genet 2009; 46(9): 614-616 [Abstract] [Full Text]  

Article supplement(s): [Web only appendicies]

V Tran-Fadulu, et al

Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations
J Med Genet 2009; 46(9): 607-613 [Abstract] [Full Text]  

Article supplement(s): [Web only appendices]

F Rizzolio, et al

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
J Med Genet 2009; 46(9): 585-592 [Abstract] [Full Text]  

Article supplement(s): [Web only appendicies]

C M Wang, et al

Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region
J Med Genet 2009; 46(8): 569-575 [Abstract] [Full Text]  

Article supplement(s): [Web only appendix]

T Furuichi, et al

Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases
J Med Genet 2009; 46(8): 562-568 [Abstract] [Full Text]  

Article supplement(s): [Web only appendicies]

H Q Qu, S F A Grant, J P Bradfield, C Kim, E Frackelton, H Hakonarson, and C Polychronakos

Association of RASGRP1 with type 1 diabetes is revealed by combined follow-up of two genome-wide studies
J Med Genet 2009; 46(8): 553-554 [Abstract] [Full Text]  

Article supplement(s): [Web only appendix]

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

Natural course of Fabry disease: changing pattern of causes of death in FOS – Fabry Outcome Survey
J Med Genet 2009; 46(8): 548-552 [Abstract] [Full Text]  

Article supplement(s): [Web only appendix]

M Tyreman, K M Abbott, L R Willatt, R Nash, C Lees, J Whittaker, and I Simonic

High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings
J Med Genet 2009; 46(8): 531-541 [Abstract] [Full Text]  

Article supplement(s): [Web only appendicies]

B Grisart, et al

17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction
J Med Genet 2009; 46(8): 524-530 [Abstract] [Full Text]  

Article supplement(s): [Web only appendicies]

B W M van Bon, et al

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
J Med Genet 2009; 46(8): 511-523 [Abstract] [Full Text]  

Article supplement(s): [Web only appendix]

X Li, et al

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
J Med Genet 2009; 46(7): 472-479 [Abstract] [Full Text]  

Article supplement(s): [Web only appendicies]

H-Q Qu and C Polychronakos

The effect of the MHC locus on autoantibodies in type 1 diabetes
J Med Genet 2009; 46(7): 469-471 [Abstract] [Full Text]  

Article supplement(s): [Web only appendix]

S Lesage, et al

Molecular analyses of the LRRK2 gene in European and North African autosomal dominant Parkinson’s disease
J Med Genet 2009; 46(7): 458-464 [Abstract] [Full Text]  

Article supplement(s): [Web only appendicies]

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

A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents
J Med Genet 2009; 46(6): 412-417 [Abstract] [Full Text]  

Article supplement(s): [Web only appendix]

F Lacbawan, et al

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function
J Med Genet 2009; 46(6): 389-398 [Abstract] [Full Text]  

Article supplement(s): [Web only appendices]

J Brooks, J Ding, J Simon-Sanchez, C Paisan-Ruiz, A B Singleton, and S W Scholz

Parkin and PINK1 mutations in early-onset Parkinson’s disease: comprehensive screening in publicly available cases and control
J Med Genet 2009; 46(6): 375-381 [Abstract] [Full Text]  

Article supplement(s): [Web only appendices]

K Nakayama, et al

Large scale replication analysis of loci associated with lipid concentrations in a Japanese population
J Med Genet 2009; 46(6): 370-374 [Abstract] [Full Text]  

Article supplement(s): [Web only appendices]

M Bourbon, M A Duarte, A C Alves, A M Medeiros, L Marques, and A K Soutar

Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations
J Med Genet 2009; 46(5): 352-357 [Abstract] [Full Text]  

Article supplement(s): [Web only appendices]

C Crimella, et al

Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum
J Med Genet 2009; 46(5): 345-351 [Abstract] [Full Text]  

Article supplement(s): [Web only appendix]

M Shintani, H Yagi, T Nakayama, T Saji, and R Matsuoka

A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension
J Med Genet 2009; 46(5): 331-337 [Abstract] [Full Text]  

Article supplement(s): [Web only appendices]

S M Ware, et al

Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes
J Med Genet 2009; 46(5): 308-314 [Abstract] [Full Text]  

Article supplement(s): [Web only appendix]

P J Francis, S C Hamon, J Ott, R G Weleber, and M L Klein

Polymorphisms in C2, CFB and C3 are associated with progression to advanced age related macular degeneration associated with visual loss
J Med Genet 2009; 46(5): 300-307 [Abstract] [Full Text]  

Article supplement(s): [Web only appendix]

M Failly, et al

Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia
J Med Genet 2009; 46(4): 281-286 [Abstract] [Full Text]  

Article supplement(s): [web only appendices]

A K Nicholas, et al

The molecular landscape of ASPM mutations in primary microcephaly
J Med Genet 2009; 46(4): 249-253 [Abstract] [Full Text]  

Article supplement(s): [web only appendices]

D T Miller, et al

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders
J Med Genet 2009; 46(4): 242-248 [Abstract] [Full Text]  

Article supplement(s): [web only appendices]

A Willaert, et al

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation
J Med Genet 2009; 46(4): 233-241 [Abstract] [Full Text]  

Article supplement(s): [web only appendix]

F D Hannes, et al

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
J Med Genet 2009; 46(4): 223-232 [Abstract] [Full Text]  

Article supplement(s): [web only appendices]

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

Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome
J Med Genet 2009; 46(3): 203-208 [Abstract] [Full Text]  

Article supplement(s): [web only appendix]

C Depienne, et al

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
J Med Genet 2009; 46(3): 183-191 [Abstract] [Full Text]  

Article supplement(s): [web only appendices]

S R Lalani, et al

20p12.3 microdeletion predisposes to Wolff–Parkinson–White syndrome with variable neurocognitive deficits
J Med Genet 2009; 46(3): 168-175 [Abstract] [Full Text]  

Article supplement(s): [web only statement] [web only appendices]

S Bruce, et al

The protective effect of farm animal exposure on childhood allergy is modified by NPSR1 polymorphisms
J Med Genet 2009; 46(3): 159-167 [Abstract] [Full Text]  

Article supplement(s): [web only appendices]

D L Bruno, et al

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
J Med Genet 2009; 46(2): 123-131 [Abstract] [Full Text]  

Article supplement(s): [web only appendices]

H Daoud, P N Valdmanis, E Kabashi, P Dion, N Dupré, W Camu, V Meininger, and G A Rouleau

Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis
J Med Genet 2009; 46(2): 112-114 [Abstract] [Full Text]  

Article supplement(s): [web only appendices]

T V Bilousova, L Dansie, M Ngo, J Aye, J R Charles, D W Ethell, and I M Ethell

Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile X mouse model
J Med Genet 2009; 46(2): 94-102 [Abstract] [Full Text]  

Article supplement(s): [web only appendices]

A Hogart, K N Leung, N J Wang, D J Wu, J Driscoll, R O Vallero, N C Schanen, and J M LaSalle

Chromosome 15q11–13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number
J Med Genet 2009; 46(2): 86-93 [Abstract] [Full Text]  

Article supplement(s): [web only appendix]

T Tucker, J M Friedman, R E Friedrich, R Wenzel, C Fünsterer, and V-F Mautner

Longitudinal study of neurofibromatosis 1 associated plexiform neurofibromas
J Med Genet 2009; 46(2): 81-85 [Abstract] [Full Text]  

Article supplement(s): [web only appendix]

L I Elizondo, et al

Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation
J Med Genet 2009; 46(1): 49-59 [Abstract] [Full Text]  

Article supplement(s): [web only appendix]

K Y-K Chan, et al

Functional polymorphisms in the BRCA1 promoter influence transcription and are associated with decreased risk for breast cancer in Chinese women
J Med Genet 2009; 46(1): 32-39 [Abstract] [Full Text]  

Article supplement(s): [web only appendix]

C Krausz, et al

Phenotypic variation within European carriers of the Y-chromosomal gr/gr deletion is independent of Y-chromosomal background
J Med Genet 2009; 46(1): 21-31 [Abstract] [Full Text]  

Article supplement(s): [web only appendices]

X-j Luo, H-b Diao, J-k Wang, H Zhang, Z-m Zhao, and B Su

Association of haplotypes spanning PDZ-GEF2, LOC728637 and ACSL6 with schizophrenia in Han Chinese
J Med Genet 2008; 45(12): 818-826 [Abstract] [Full Text]  

Article supplement(s): [web only appendix]

N Ishikawa, et al

Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene
J Med Genet 2008; 45(12): 802-807 [Abstract] [Full Text]  

Article supplement(s): [web only appendix]

H Li, et al

Polymorphisms in the C-type lectin genes cluster in chromosome 19 and predisposition to severe acute respiratory syndrome coronavirus (SARS-CoV) infection
J Med Genet 2008; 45(11): 752-758 [Abstract] [Full Text]  

Article supplement(s): [web only appendix]

C-C So, Y-Q Song, S T Tsang, L-F Tang, A Y Chan, E S Ma, and L-C Chan

The HBS1L-MYB intergenic region on chromosome 6q23 is a quantitative trait locus controlling fetal haemoglobin level in carriers of β-thalassaemia
J Med Genet 2008; 45(11): 745-751 [Abstract] [Full Text]  

Article supplement(s): [web only appendix]

S Fischer, J Kohlhase, D Böhm, B Schweiger, D Hoffmann, M Heitmann, B Horsthemke, and D Wieczorek

Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia
J Med Genet 2008; 45(11): 731-737 [Abstract] [Full Text]  

Article supplement(s): [web only appendices]

B Giusti, et al

Genetic analysis of 56 polymorphisms in 17 genes involved in methionine metabolism in patients with abdominal aortic aneurysm
J Med Genet 2008; 45(11): 721-730 [Abstract] [Full Text]  

Article supplement(s): [web only appendices]

D A Koolen, et al

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
J Med Genet 2008; 45(11): 710-720 [Abstract] [Full Text]  

Article supplement(s): [web only appendices]

F Erdogan, et al

High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease
J Med Genet 2008; 45(11): 704-709 [Abstract] [Full Text]  

Article supplement(s): [web only appendices]

F Chibon, C Primois, J-M Bressieux, D Lacombe, C Lok, L Mauriac, A Taieb, and M Longy

Contribution of PTEN large rearrangements in Cowden disease: a multiplex amplifiable probe hybridisation (MAPH) screening approach
J Med Genet 2008; 45(10): 657-665 [Abstract] [Full Text]  

Article supplement(s): [web only appendices]

T Mushiroda, et al

A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis
J Med Genet 2008; 45(10): 654-656 [Abstract] [Full Text]  

Article supplement(s): [web only appendices]

A Botta, et al

The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients
J Med Genet 2008; 45(10): 639-646 [Abstract] [Full Text]  

Article supplement(s): [web only appendix]

Correction
J Med Genet 2008; 45(9): 608-608 [Full Text]  

Article supplement(s): [web only appendices]

A Russell-Swetek, A N West, J E Mintern, J Jenkins, C Rodriguez-Galindo, R Ribeiro, and G P Zambetti

Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma
J Med Genet 2008; 45(9): 603-606 [Abstract] [Full Text]  

Article supplement(s): [web only appendices]

M Sun, et al

Triphalangeal thumb–polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer
J Med Genet 2008; 45(9): 589-595 [Abstract] [Full Text]  

Article supplement(s): [web only figure]

G Bougeard, et al

Molecular basis of the Li–Fraumeni syndrome: an update from the French LFS families
J Med Genet 2008; 45(8): 535-538 [Abstract] [Full Text]  

Article supplement(s): [web only appendix]

R G E van Eijsden, et al

Termination of damaged protein repair defines the occurrence of symptoms in carriers of the m.3243A>G tRNA^Leu mutation
J Med Genet 2008; 45(8): 525-534 [Abstract] [Full Text]  

Article supplement(s): [web only appendix]

A-M Nyström, et al

Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders
J Med Genet 2008; 45(8): 500-506 [Abstract] [Full Text]  

Article supplement(s): [web only appendix]

Z-B Jin, et al

Identifying pathogenic genetic background of simplex or multiplex retinitis pigmentosa patients: a large scale mutation screening study
J Med Genet 2008; 45(7): 465-472 [Abstract] [Full Text]  

Article supplement(s): [web only appendix]

Y L Song, C N Wang, M W Fan, B Su, and Z Bian

Dentin phosphoprotein frameshift mutations in hereditary dentin disorders and their variation patterns in normal human population
J Med Genet 2008; 45(7): 457-464 [Abstract] [Full Text]  

Article supplement(s): [web only appendices]

K Pulli, K Karma, R Norio, P Sistonen, H H H Göring, and I Järvelä

Genome-wide linkage scan for loci of musical aptitude in Finnish families: evidence for a major locus at 4q22
J Med Genet 2008; 45(7): 451-456 [Abstract] [Full Text]  

Article supplement(s): [web only appendix]

F S Jehee, et al

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
J Med Genet 2008; 45(7): 447-450 [Abstract] [Full Text]  

Article supplement(s): [web only appendix]

C Bonnet, et al

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
J Med Genet 2008; 45(7): 438-446 [Abstract] [Full Text]  

Article supplement(s): [web only appendix]

S Monfort, M Roselló, C Orellana, S Oltra, D Blesa, K Kok, I Ferrer, J C Cigudosa, and F Martínez

Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes
J Med Genet 2008; 45(7): 432-437 [Abstract] [Full Text]  

Article supplement(s): [web only appendices]

J Jorge Galan, et al

Identification of a 2244 base pair interstitial deletion within the human ESR1 gene in the Spanish population
J Med Genet 2008; 45(7): 420-424 [Abstract] [Full Text]  

Article supplement(s): [web only appendix]

J S Yoon, et al

Heterogeneity in the processing defect of SLC26A4 mutants
J Med Genet 2008; 45(7): 411-419 [Abstract] [Full Text]  

Article supplement(s): [web only appendices]

S J Huybrechts, et al

Identification of a novel PEX14 mutation in Zellweger syndrome
J Med Genet 2008; 45(6): 376-383 [Abstract] [Full Text]  

Article supplement(s): [web only tables]

E Klopocki, C-E Ott, N Benatar, R Ullmann, S Mundlos, and K Lehmann

A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome
J Med Genet 2008; 45(6): 370-375 [Abstract] [Full Text]  

Article supplement(s): [web only appendix]

D C Bittel, M F Theodoro, N Kibiryeva, W Fischer, Z Talebizadeh, and M G Butler

Comparison of X-chromosome inactivation patterns in multiple tissues from human females
J Med Genet 2008; 45(5): 309-313 [Abstract] [Full Text]  

Article supplement(s): [web only appendices]

E Aston, et al

Comparison of targeted and whole genome analysis of postnatal specimens using a commercially available array based comparative genomic hybridisation (aCGH) microarray platform
J Med Genet 2008; 45(5): 268-274 [Abstract] [Full Text]  

Article supplement(s): [web only table]

L L E Koskinen, et al

Myosin IXB gene region and gluten intolerance: linkage to coeliac disease and a putative dermatitis herpetiformis association
J Med Genet 2008; 45(4): 222-227 [Abstract] [Full Text]  

Article supplement(s): [web only appendices]

Y Yamada, et al

Genetic risk for myocardial infarction determined by polymorphisms of candidate genes in a Japanese population
J Med Genet 2008; 45(4): 216-221 [Abstract] [Full Text]  

Article supplement(s): [web only table]

W Rossmanith, M Freilinger, J Roka, T Raffelsberger, K Moser-Thier, D Prayer, G Bernert, and R E Bittner

Isolated cytochrome c oxidase deficiency as a cause of MELAS
J Med Genet 2008; 45(2): 117-121 [Abstract] [Full Text]  

Article supplement(s): [web only appendices]

R H Scott, et al

Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation
J Med Genet 2008; 45(2): 106-113 [Abstract] [Full Text]  

Article supplement(s): [web only table]

L Ocaka, et al

Assignment of two loci for autosomal dominant adolescent idiopathic scoliosis to chromosomes 9q31.2-q34.2 and 17q25.3-qtel
J Med Genet 2008; 45(2): 87-92 [Abstract] [Full Text]  

Article supplement(s): [web only figures]

K Osoegawa, et al

Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation
J Med Genet 2008; 45(2): 81-86 [Abstract] [Full Text]  

Article supplement(s): [web only appendix]

R A George, T D Smith, S Callaghan, L Hardman, C Pierides, O Horaitis, M A Wouters, and R G H Cotton

General mutation databases: analysis and review
J Med Genet 2008; 45(2): 65-70 [Abstract] [Full Text]  

Article supplement(s): [web only tables]

Y Yamada, et al

Genetic risk for metabolic syndrome: examination of candidate gene polymorphisms related to lipid metabolism in Japanese people
J Med Genet 2008; 45(1): 22-28 [Abstract] [Full Text]  

Article supplement(s): [web only table]

A De Luca, et al

Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification
J Med Genet 2007; 44(12): 800-808 [Abstract] [Full Text]  

Article supplement(s): [web only table]

Veronica van Heyningen, Jan M N Hoovers, Jan de Kraker, and John A Crolla

Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion
J Med Genet 2007; 44(12): 787-790 [Abstract] [Full Text]  

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M De Gregori, et al

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients
J Med Genet 2007; 44(12): 750-762 [Abstract] [Full Text]  

Article supplement(s): [web only tables]

M Carlson and M Silberbach

Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature
J Med Genet 2007; 44(12): 745-749 [Abstract] [Full Text]  

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V C Wheeler, et al

Factors associated with HD CAG repeat instability in Huntington disease
J Med Genet 2007; 44(11): 695-701 [Abstract] [Full Text]  

Article supplement(s): [web only appendix]

Martin Zenker, et al

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome
J Med Genet 2007; 44(10): 651-656 [Abstract] [Full Text]  

Article supplement(s): [web only appendix]

I K Temple, V Shrubb, M Lever, H Bullman, and D J G Mackay

Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14
J Med Genet 2007; 44(10): 637-640 [Abstract] [Full Text]  

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Ellen G Pfendner, et al

Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum
J Med Genet 2007; 44(10): 621-628 [Abstract] [Full Text]  

Article supplement(s): [web only appendices]

J Med Genet 2007; 44(10)  

Issue supplement(s): [British Human Genetics Conference 2007]

E Van Eyken, et al

Contribution of the N-acetyltransferase 2 polymorphism NAT2*6A to age-related hearing impairment
J Med Genet 2007; 44(9): 570-578 [Abstract] [Full Text]  

Article supplement(s): [web only appendix]

Nicole M C Maas, et al

The C20orf133 gene is disrupted in a patient with Kabuki syndrome
J Med Genet 2007; 44(9): 562-569 [Abstract] [Full Text]  

Article supplement(s): [web only appendices]

Farah Zahir, et al

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children
J Med Genet 2007; 44(9): 556-561 [Abstract] [Full Text]  

Article supplement(s): [web only appendix]

J Andrieux, et al

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 Med Genet 2007; 44(8): 537-540 [Abstract] [Full Text]  

Article supplement(s): [web only appendix]

Julie Dumont, Mahmoud Zureik, Dominique Cottel, Michèle Montaye, Pierre Ducimetière, Philippe Amouyel, and Thierry Brousseau

Association of arginase 1 gene polymorphisms with the risk of myocardial infarction and common carotid intima–media thickness
J Med Genet 2007; 44(8): 526-531 [Abstract] [Full Text]  

Article supplement(s): [web only figure]

J Barwell, et al

Biallelic mutation of MSH2 in primary human cells is associated with sensitivity to irradiation and altered RAD51 foci kinetics
J Med Genet 2007; 44(8): 516-520 [Abstract] [Full Text]  

Article supplement(s): [web only figure]

Satoshi Okada, et al

The novel IFNGR1 mutation 774del4 produces a truncated form of interferon- receptor 1 and has a dominant-negative effect on interferon- signal transduction
J Med Genet 2007; 44(8): 485-491 [Abstract] [Full Text]  

Article supplement(s): [web only figure]

Ineke van der Burgt, et al

Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation
J Med Genet 2007; 44(7): 459-462 [Abstract] [Full Text]  

Article supplement(s): [web only appendix]

C Depienne, et al

Autism, language delay and mental retardation in a patient with 7q11 duplication
J Med Genet 2007; 44(7): 452-458 [Abstract] [Full Text]  

Article supplement(s): [web only tables]

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Analysis of sex chromosome abnormalities using X and Y chromosome DNA tiling path arrays
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A hexanucleotide repeat upstream of eotaxin gene promoter is associated with asthma, serum total IgE and plasma eotaxin levels
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Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2
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Genetic enhancement of cognition in a kindred with cone–rod dystrophy due to RIMS1 mutation
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Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy
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FRA18C: a new aphidicolin-inducible fragile site on chromosome 18q22, possibly associated with in vivo chromosome breakage
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The human GIMAP5 gene has a common polyadenylation polymorphism increasing risk to systemic lupus erythematosus
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New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy
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Enza Di Leo, Lucia Magnolo, Sandra Lancellotti, Lory Crocè, Luca Visintin, Claudio Tiribelli, Stefano Bertolini, Sebastiano Calandra, and Patrizia Tarugi

Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinaemia
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Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes
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Development of a genotyping microarray for Usher syndrome
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13q Deletion and central nervous system anomalies: further insights from karyotype–phenotype analyses of 14 patients
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Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk
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N J Spencer-Jones, D Ge, H Snieder, U Perks, R Swaminathan, T D Spector, N D Carter, and S D O’Dell

AMP-kinase 2 subunit gene PRKAA2 variants are associated with total cholesterol, low-density lipoprotein-cholesterol and high-density lipoprotein-cholesterol in normal women
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CDH1/E-cadherin germline mutations in early-onset gastric cancer
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Genetic predictors for acute experimental cold and heat pain sensitivity in humans
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Predicting disease genes using protein–protein interactions
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A new locus for autosomal dominant intracranial aneurysm, ANIB4, maps to chromosome 5p15.2-14.3
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Novel locus for X linked recessive high myopia maps to Xq23–q25 but outside MYP1
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S Türkmen, O Demirhan, K Hoffmann, A Diers, C Zimmer, K Sperling, and S Mundlos

Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p
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Prenatal detection of unbalanced chromosomal rearrangements by array CGH
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CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene
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Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions
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A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2
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Survivin-directed RNA interference cocktail is a potent suppressor of tumour growth in vivo
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G J Pazour, N Agrin, B L Walker, and G B Witman

Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes
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Analysis of RUNX1 binding site and RAPTOR polymorphisms in psoriasis: no evidence for association despite adequate power and evidence for linkage
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E Kinning, C Tufarelli, W S Winship, M A Aldred, and R C Trembath

Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder
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U Moog, M C Jones, L M Bird, and W B Dobyns

Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype
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C Bergmann, F Küpper, C P Schmitt, U Vester, T J Neuhaus, J Senderek, and K Zerres

Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD)
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Matrilin-3 mutations that cause chondrodysplasias interfere with protein trafficking while a mutation associated with hand osteoarthritis does not
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Cancer risks in BRCA2 families: estimates for sites other than breast and ovary
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Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans
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In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients
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Identification and characterization of missense alterations in the BRCA1 associated RING domain (BARD1) gene in breast and ovarian cancer
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Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families
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Association of a COL1A1 polymorphism with lumbar disc disease in young military recruits
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Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)
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The gr/gr deletion(s): a new genetic test in male infertility?
J Med Genet 2005; 42(6): 497-502 [Full Text]  

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F Quehenberger, H F A Vasen, and H C van Houwelingen

Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment
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C K Haston, T G Tomko, N Godin, L Kerckhoff, and M T Hallett

Murine candidate bleomycin induced pulmonary fibrosis susceptibility genes identified by gene expression and sequence analysis of linkage regions
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Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency
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STK11 genotyping and cancer risk in Peutz-Jeghers syndrome
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A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter
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Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts
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Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome?
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Mapping of psoriasis to 17q terminus
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Classification of BRCA1 missense variants of unknown clinical significance
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Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects
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Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations
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Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy
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New insights into cystinuria: 40 new mutations, genotype–phenotype correlation, and digenic inheritance causing partial phenotype
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Genetics of the FANCA gene in familial pancreatic cancer
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SCAMP: a spreadsheet to collate autozygosity mapping projects
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M T Howard, N Malik, C B Anderson, J L A Voskuil, J F Atkins, and R J Gibbons

Attenuation of an amino-terminal premature stop codon mutation in the ATRX gene by an alternative mode of translational initiation
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F Niel, J Martin, F Dastot-Le Moal, B Costes, B Boissier, V Delattre, M Goossens, and E Girodon

Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis
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K J H Robson, A T Merryweather-Clarke, E Cadet, V Viprakasit, M G Zaahl, J J Pointon, D J Weatherall, and J Rochette

Recent advances in understanding haemochromatosis: a transition state
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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

A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance
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A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood
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Molecular analysis of the mitochondrial 12S rRNA and tRNA^Ser(UCN) genes in paediatric subjects with non-syndromic hearing loss
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Positive association of the DIO2 (deiodinase type 2) gene with mental retardation in the iodine-deficient areas of China
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Novel splicing associations of hereditary colon cancer related DNA mismatch repair gene mutations
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Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes
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Large scale association analysis for identification of genes underlying premature coronary heart disease: cumulative perspective from analysis of 111 candidate genes
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A twofold increase in BRCA mutation related prostate cancer among Ashkenazi Israelis is not associated with distinctive histopathology
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Genotype-phenotype correlations for cataracts in neurofibromatosis 2
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Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype
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HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours
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Demographic and phenotypic features of 70 families segregating Barrett’s oesophagus and oesophageal adenocarcinoma
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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
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Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene
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High frequency of T9 and CFTR mutations in children with idiopathic bronchiectasis
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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

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

Haplotype analysis of distantly related populations implicates corneodesmosin in psoriasis susceptibility
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Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate
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The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver-Russell syndrome
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Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness
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Cancer risk in 348 French MSH2 or MLH1 gene carriers
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Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism
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J M Wheway, S C Yau, V Nihalani, D Ellis, M Irving, M Splitt, and R G Roberts

A complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome
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Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)
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Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene
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P O Chappuis, J Goffin, N Wong, C Perret, P Ghadirian, P N Tonin, and W D Foulkes

A significant response to neoadjuvant chemotherapy in BRCA1/2 related breast cancer
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Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype
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D G R Evans, M E Baser, J McGaughran, S Sharif, E Howard, and A Moran

Malignant peripheral nerve sheath tumours in neurofibromatosis 1
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An aetiological study of 25 mentally retarded adults with autism
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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

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
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Robert B Chadwick, et al

Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma
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C E BROWNE, E HATCHWELL, A PROTOPAPOS, and J RAMOS

Duplication of medial 15q confirmed by FISH
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S V Hodgson, M Caligo, J Chang-Claude, D Eccles, G Evans, P Møller, P Morrison, C M Steel, and D Stoppa-Lyonnet

A survey of the current clinical facilities for the management of familial cancer in Europe
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Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients
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Henry T Lynch and Albert de la Chapelle

Genetic susceptibility to non-polyposis colorectal cancer
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