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From the Current Issue: 45 (10); [Table of Contents]

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]

From Past Issues:

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]

R G E van Eijsden, et al
Termination of damaged protein repair defines the occurrence of symptoms in carriers of the m.3243A>G tRNALeu 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]  
Article supplement(s): [web only appendices]

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]  
Article supplement(s): [web only tables]

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

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-{gamma} receptor 1 and has a dominant-negative effect on interferon-{gamma} 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]

A C Karcanias, K Ichimura, M J Mitchell, C A Sargent, and N A Affara
Analysis of sex chromosome abnormalities using X and Y chromosome DNA tiling path arrays
J Med Genet 2007; 44(7): 429-436 [Abstract] [Full Text]  
Article supplement(s): [web only tables]

Jyotsna Batra, Reenu Rajpoot, Jasmine Ahluwalia, Satish K Devarapu, Surendra K Sharma, Amit K Dinda, and Balaram Ghosh
A hexanucleotide repeat upstream of eotaxin gene promoter is associated with asthma, serum total IgE and plasma eotaxin levels
J Med Genet 2007; 44(6): 397-403 [Abstract] [Full Text]  
Article supplement(s): [web only appendices]

Linda P Jakobsen, et al
Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2
J Med Genet 2007; 44(6): 381-386 [Abstract] [Full Text]  
Article supplement(s): [web only appendix]

Sanjay M Sisodiya, et al
Genetic enhancement of cognition in a kindred with cone–rod dystrophy due to RIMS1 mutation
J Med Genet 2007; 44(6): 373-380 [Abstract] [Full Text]  
Article supplement(s): [web only appendix]

Peter J Taylor, et al
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy
J Med Genet 2007; 44(6): 368-372 [Abstract] [Full Text]  
Article supplement(s): [web only tables]

Kim Debacker, Birgitta Winnepenninckx, Neta Ben-Porat, David FitzPatrick, Rob Van Luijk, Stefaan Scheers, Batsheva Kerem, and R Frank Kooy
FRA18C: a new aphidicolin-inducible fragile site on chromosome 18q22, possibly associated with in vivo chromosome breakage
J Med Genet 2007; 44(5): 347-352 [Abstract] [Full Text]  
Article supplement(s): [web only table]

Anna Hellquist, et al
The human GIMAP5 gene has a common polyadenylation polymorphism increasing risk to systemic lupus erythematosus
J Med Genet 2007; 44(5): 314-321 [Abstract] [Full Text]  
Article supplement(s): [web only appendix]

D Marchant, et al
New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy
J Med Genet 2007; 44(3): e70-e70 [Abstract] [Full Text]  
Article supplement(s): [web only appendices]

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
J Med Genet 2007; 44(3): 219-224 [Abstract] [Full Text]  
Article supplement(s): [web only appendices]

Roslyn Varki, Sara Sadowski, Jouni Uitto, and Ellen Pfendner
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes
J Med Genet 2007; 44(3): 181-192 [Abstract] [Full Text]  
Article supplement(s): [web only appendix]

Frans P M Cremers, et al
Development of a genotyping microarray for Usher syndrome
J Med Genet 2007; 44(2): 153-160 [Abstract] [Full Text]  
Article supplement(s): [web only tables]

Lisa Edelmann, et al
An atypical deletion of the Williams–Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism
J Med Genet 2007; 44(2): 136-143 [Abstract] [Full Text]  
Article supplement(s): [web only figure] [web only tables]

Bermseok Oh, et al
Associations of catalase gene polymorphisms with bone mineral density and bone turnover markers in postmenopausal women
J Med Genet 2007; 44(1): e62-e62 [Abstract] [Full Text]  
Article supplement(s): [web only figure and tables]

Lucia Ballarati, et al
13q Deletion and central nervous system anomalies: further insights from karyotype–phenotype analyses of 14 patients
J Med Genet 2007; 44(1): e60-e60 [Abstract] [Full Text]  
Article supplement(s): [web only appendices]

A Smith, et al
Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening
J Med Genet 2007; 44(1): 10-15 [Abstract] [Full Text]  
Article supplement(s): [web only appendix]

S E Humphries, et al
Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk
J Med Genet 2006; 43(12): 943-949 [Abstract] [Full Text]  
Article supplement(s): [web only appendix]

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 {alpha}2 subunit gene PRKAA2 variants are associated with total cholesterol, low-density lipoprotein-cholesterol and high-density lipoprotein-cholesterol in normal women
J Med Genet 2006; 43(12): 936-942 [Abstract] [Full Text]  
Article supplement(s): [web only table]

J T Bacani, M Soares, R Zwingerman, N di Nicola, J Senz, R Riddell, D G Huntsman, and S Gallinger
CDH1/E-cadherin germline mutations in early-onset gastric cancer
J Med Genet 2006; 43(11): 867-872 [Abstract] [Full Text]  
Article supplement(s): [web only tables]

C Vollmert, et al
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
J Med Genet 2006; 43(10): e53-e53 [Abstract] [Full Text]  
Article supplement(s): [web only table]

H Kim, D P Mittal, M J Iadarola, and R A Dionne
Genetic predictors for acute experimental cold and heat pain sensitivity in humans
J Med Genet 2006; 43(8): e40-e40 [Abstract] [Full Text]  
Article supplement(s): [web only appendices]

M Oti, B Snel, M A Huynen, and H G Brunner
Predicting disease genes using protein–protein interactions
J Med Genet 2006; 43(8): 691-698 [Abstract] [Full Text]  
Article supplement(s): [web only appendix]

D J Verlaan, M-P Dubé, J St-Onge, A Noreau, J Roussel, N Satgé, M C Wallace, and G A Rouleau
A new locus for autosomal dominant intracranial aneurysm, ANIB4, maps to chromosome 5p15.2-14.3
J Med Genet 2006; 43(6): e31-e31 [Abstract] [Full Text]  
Article supplement(s): [Web-only figure]

U Hüffmeier, et al
Evidence for susceptibility determinant(s) to psoriasis vulgaris in or near PTPN22 in German patients
J Med Genet 2006; 43(6): 517-522 [Abstract] [Full Text]  
Article supplement(s): [Web-only table]

Q Zhang, X Guo, X Xiao, X Jia, S Li, and J F Hejtmancik
Novel locus for X linked recessive high myopia maps to Xq23–q25 but outside MYP1
J Med Genet 2006; 43(5): e20-e20 [Abstract] [Full Text]  
Article supplement(s): [Web-only figure]

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
J Med Genet 2006; 43(5): 461-464 [Abstract] [Full Text]  
Article supplement(s): [Web-only video]

L Rickman, et al
Prenatal detection of unbalanced chromosomal rearrangements by array CGH
J Med Genet 2006; 43(4): 353-361 [Abstract] [Full Text]  
Article supplement(s): [Web-only table]

M C J Jongmans, et al
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene
J Med Genet 2006; 43(4): 306-314 [Abstract] [Full Text]  
Article supplement(s): [Web-only tables]

C Howald, et al
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions
J Med Genet 2006; 43(3): 266-273 [Abstract] [Full Text]  
Article supplement(s): [Web-only figures]

K W Kjaer, H Eiberg, L Hansen, C B van der Hagen, K Rosendahl, N Tommerup, and S Mundlos
A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2
J Med Genet 2006; 43(3): 225-231 [Abstract] [Full Text]  
Article supplement(s): [Web-only figure]

D Sanlaville, et al
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development
J Med Genet 2006; 43(3): 211-317 [Abstract] [Full Text]  
Article supplement(s): [Web-only appendix]

H Caldas, M P Holloway, B M Hall, S J Qualman, and R A Altura
Survivin-directed RNA interference cocktail is a potent suppressor of tumour growth in vivo
J Med Genet 2006; 43(2): 119-128 [Abstract] [Full Text]  
Article supplement(s): [ Corrected figure]

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
J Med Genet 2006; 43(1): 62-73 [Abstract] [Full Text]  
Article supplement(s): [Web-only appendix]

P Stuart, et al
Analysis of RUNX1 binding site and RAPTOR polymorphisms in psoriasis: no evidence for association despite adequate power and evidence for linkage
J Med Genet 2006; 43(1): 12-17 [Abstract] [Full Text]  
Article supplement(s): [web only appendices]

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
J Med Genet 2005; 42(12): e70-e70 [Abstract] [Full Text]  
Article supplement(s): [Web-only tables]

CORRECTION
J Med Genet 2005; 42(12): 952-952 [Full Text]  
Article supplement(s): [Web-only figures]

U Moog, M C Jones, L M Bird, and W B Dobyns
Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype
J Med Genet 2005; 42(12): 913-921 [Abstract] [Full Text]  
Article supplement(s): [Web-only figures]

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)
J Med Genet 2005; 42(10): e63-e63 [Abstract] [Full Text]  
Article supplement(s): [Web-only tables]

C Otten, R Wagener, M Paulsson, and F Zaucke
Matrilin-3 mutations that cause chondrodysplasias interfere with protein trafficking while a mutation associated with hand osteoarthritis does not
J Med Genet 2005; 42(10): 774-779 [Abstract] [Full Text]  
Article supplement(s): [Web-only figures]

C J van Asperen, et al
Cancer risks in BRCA2 families: estimates for sites other than breast and ovary
J Med Genet 2005; 42(9): 711-719 [Abstract] [Full Text]  
Article supplement(s): [Erratum]

H Sun, et al
Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans
J Med Genet 2005; 42(9): 706-710 [Abstract] [Full Text]  
Article supplement(s): [Erratum]

N Sylvius, et al
In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients
J Med Genet 2005; 42(8): 639-647 [Abstract] [Full Text]  
Article supplement(s): [Web-only appendix]

M K Sauer and I L Andrulis
Identification and characterization of missense alterations in the BRCA1 associated RING domain (BARD1) gene in breast and ovarian cancer
J Med Genet 2005; 42(8): 633-638 [Abstract] [Full Text]  
Article supplement(s): [Web-only figures] [Web-only table]

C Ziviello, et al
Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families
J Med Genet 2005; 42(7): e47-e47 [Abstract] [Full Text]  
Article supplement(s): [Web-only table]

C Tilkeridis, T Bei, S Garantziotis, and C A Stratakis
Association of a COL1A1 polymorphism with lumbar disc disease in young military recruits
J Med Genet 2005; 42(7): e44-e44 [Abstract] [Full Text]  
Article supplement(s): [Erratum]

P J Ferguson, et al
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)
J Med Genet 2005; 42(7): 551-557 [Abstract] [Full Text]  
Article supplement(s): [Web-only table]

C Giachini, E Guarducci, G Longepied, S Degl’Innocenti, L Becherini, G Forti, M J Mitchell, and C Krausz
The gr/gr deletion(s): a new genetic test in male infertility?
J Med Genet 2005; 42(6): 497-502 [Full Text]  
Article supplement(s): [Correction]

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
J Med Genet 2005; 42(6): 491-496 [Abstract] [Full Text]  
Article supplement(s): [Web-only supplement]

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
J Med Genet 2005; 42(6): 464-473 [Abstract] [Full Text]  
Article supplement(s): [Web-only table]

M Bugiani, V Tiranti, L Farina, G Uziel, and M Zeviani
Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency
J Med Genet 2005; 42(5): e28-e28 [Abstract] [Full Text]  
Article supplement(s): [Erratum]

V Schumacher, T Vogel, B Leube, C Driemel, T Goecke, G Möslein, and B Royer-Pokora
STK11 genotyping and cancer risk in Peutz-Jeghers syndrome
J Med Genet 2005; 42(5): 428-435 [Full Text]  
Article supplement(s): [Web-only figure]

T Tukel, et al
A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter
J Med Genet 2005; 42(5): 408-415 [Abstract] [Full Text]  
Article supplement(s): [Errata] [Web-only tables]

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
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts
J Med Genet 2005; 42(4): 336-349 [Full Text]  
Article supplement(s): [Web-only tables]

R Redon, et al
Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome?
J Med Genet 2005; 42(2): 166-171 [Full Text]  
Article supplement(s): [Web-only Figures]

W-L Hwu, et al
Mapping of psoriasis to 17q terminus
J Med Genet 2005; 42(2): 152-158 [Full Text]  
Article supplement(s): [Web-only Table]

C M Phelan, et al
Classification of BRCA1 missense variants of unknown clinical significance
J Med Genet 2005; 42(2): 138-146 [Abstract] [Full Text]  
Article supplement(s): [Erratum]

J A Lamb, et al
Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects
J Med Genet 2005; 42(2): 132-137 [Abstract] [Full Text]  
Article supplement(s): [Web-only Table]

C Le Caignec, M Boceno, P Saugier-Veber, S Jacquemont, M Joubert, A David, T Frebourg, and J M Rival
Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations
J Med Genet 2005; 42(2): 121-128 [Abstract] [Full Text]  
Article supplement(s): [Tables and Figures of Figure 1]

A K Lampe, et al
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy
J Med Genet 2005; 42(2): 108-120 [Abstract] [Full Text]  
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M Font-Llitjós, M Jiménez-Vidal, L Bisceglia, M Di Perna, L de Sanctis, F Rousaud, L Zelante, M Palacín, and V Nunes
New insights into cystinuria: 40 new mutations, genotype–phenotype correlation, and digenic inheritance causing partial phenotype
J Med Genet 2005; 42(1): 58-68 [Abstract] [Full Text]  
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C D Rogers, et al
Genetics of the FANCA gene in familial pancreatic cancer
J Med Genet 2004; 41(12): e126-e126 [Full Text]  
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T Forshew and C A Johnson
SCAMP: a spreadsheet to collate autozygosity mapping projects
J Med Genet 2004; 41(12): e125-e125 [Full Text]  
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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
J Med Genet 2004; 41(12): 951-956 [Full Text]  
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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
J Med Genet 2004; 41(11): e118-e118 [Full Text]  
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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
J Med Genet 2004; 41(10): 721-730 [Abstract] [Full Text]  
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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
J Med Genet 2004; 41(8): e106-e106 [Full Text]  
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M T Bassi, et al
A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood
J Med Genet 2004; 41(8): 621-628 [Full Text]  
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R Li, J H Greinwald Jr, L Yang, D I Choo, R J Wenstrup, and M-X Guan
Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss
J Med Genet 2004; 41(8): 615-620 [Full Text]  
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T-W Guo, et al
Positive association of the DIO2 (deiodinase type 2) gene with mental retardation in the iodine-deficient areas of China
J Med Genet 2004; 41(8): 585-590 [Abstract] [Full Text]  
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E Renkonen, H Lohi, H J Järvinen, J-P Mecklin, and P Peltomäki
Novel splicing associations of hereditary colon cancer related DNA mismatch repair gene mutations
J Med Genet 2004; 41(7): e95-e95 [Full Text]  
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M A Aldred, et al
Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes
J Med Genet 2004; 41(6): 433-439 [Full Text]  
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J J McCarthy, et al
Large scale association analysis for identification of genes underlying premature coronary heart disease: cumulative perspective from analysis of 111 candidate genes
J Med Genet 2004; 41(5): 334-341 [Abstract] [Full Text]  
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J Med Genet 2003; 40(11)  
Issue supplement(s): [November JMG PREprint]

R M Giusti, et al
A twofold increase in BRCA mutation related prostate cancer among Ashkenazi Israelis is not associated with distinctive histopathology
J Med Genet 2003; 40(10): 787-792 [Full Text]  
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M E Baser, L Kuramoto, H Joe, J M Friedman, A J Wallace, R T Ramsden, and D G R Evans
Genotype-phenotype correlations for cataracts in neurofibromatosis 2
J Med Genet 2003; 40(10): 758-760 [Full Text]  
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M G de Silva, et al
Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype
J Med Genet 2003; 40(10): 733-740 [Abstract] [Full Text]  
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V M Howell, et al
HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours
J Med Genet 2003; 40(9): 657-663 [Abstract] [Full Text]  
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C M Drovdlic, et al
Demographic and phenotypic features of 70 families segregating Barrett’s oesophagus and oesophageal adenocarcinoma
J Med Genet 2003; 40(9): 651-656 [Abstract] [Full Text]  
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J Med Genet 2003; 40(9)  
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B Wilcken, et al
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
J Med Genet 2003; 40(8): 619-625 [Full Text]  
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M Herasse, et al
Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene
J Med Genet 2003; 40(8): 605-609 [Full Text]  
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V N Ninis, M O Kylynç, M Kandemir, E Daðly, and A Tolun
High frequency of T9 and CFTR mutations in children with idiopathic bronchiectasis
J Med Genet 2003; 40(7): 530-535 [Full Text]  
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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
J Med Genet 2003; 40(6): e79-e79 [Full Text]  
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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
J Med Genet 2003; 40(6): 447-452 [Full Text]  
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P A Jezewski, et al
Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate
J Med Genet 2003; 40(6): 399-407 [Abstract] [Full Text]  
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L Bentley, et al
The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver-Russell syndrome
J Med Genet 2003; 40(4): 249-256 [Abstract] [Full Text]  
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H-J Park, et al
Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness
J Med Genet 2003; 40(4): 242-248 [Abstract] [Full Text]  
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Y Parc, C Boisson, G Thomas, and S Olschwang
Cancer risk in 348 French MSH2 or MLH1 gene carriers
J Med Genet 2003; 40(3): 208-213 [Full Text]  
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P J Yong, I J Barrett, D K Kalousek, and W P Robinson
Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism
J Med Genet 2003; 40(3): 175-182 [Abstract] [Full Text]  
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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
J Med Genet 2003; 40(2): 127-131 [Full Text]  
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E R Maher, et al
Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)
J Med Genet 2003; 40(1): 62-64 [Full Text]  
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S Eyre, et al
Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene
J Med Genet 2002; 39(9): 634-638 [Abstract] [Full Text]  
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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
J Med Genet 2002; 39(8): 608-610 [Full Text]  
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L Faivre, et al
Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype
J Med Genet 2002; 39(8): 594-596 [Full Text]  
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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
J Med Genet 2002; 39(5): 311-314 [Abstract] [Full Text]  
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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
An aetiological study of 25 mentally retarded adults with autism
J Med Genet 2002; 39(3): 205-213 [Full Text]  
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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
J Med Genet 2001; 38(10): 710-719 [Full Text]  
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Robert B Chadwick, et al
Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma
J Med Genet 2001; 38(7): 461-466 [Full Text]  
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C E BROWNE, E HATCHWELL, A PROTOPAPOS, and J RAMOS
Duplication of medial 15q confirmed by FISH
J Med Genet 2000; 37(8): e10-e10 [Full Text]  
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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
J Med Genet 2000; 37(8): 605-607 [Full Text]  
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MARIAPINA MONTERA, et al
Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients
J Med Genet 2000; 37(7): e7-e7 [Full Text]  
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Henry T Lynch and Albert de la Chapelle
Genetic susceptibility to non-polyposis colorectal cancer
J Med Genet 1999; 36(11): 801-818 [Abstract] [Full Text]  
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