Journal of Medical Genetics: 40 (3)

Electronic letters

Investigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung disease
(1 March, 2003) Free
S Borrego, R M Fernández, H Dziema, A Niess, M López-Alonso, G Antiñolo, C Eng
No fumarate hydratase (FH) mutations in hereditary prostate cancer
(1 March, 2003) Free
R Lehtonen, M Kiuru, A Rökman, T Ikonen, J M Cunningham, D J Schaid, M Matikainen, N N Nupponen, A Karhu, O-P Kallioniemi, S N Thibodeau, J Schleutker, L A Aaltonen
Y chromosome haplotypes and testicular cancer in the English population (1 March, 2003) Free
L Quintana-Murci, M E Weale, M G Thomas, E Erdei, N Bradman, J H Shanks, C Krausz, K McElreavey
RNASEL mutations in hereditary prostate cancer
(1 March, 2003) Free
H Chen, A R Griffin, Y-Q Wu, L P Tomsho, K A Zuhlke, E M Lange, S B Gruber, K A Cooney
The RNASEL 471delAAAG allele and prostate cancer in Ashkenazi Jewish men
(1 March, 2003) Free
K Kotar, N Hamel, I Thiffault, W D Foulkes
The BRCA2 variant 8204G>A is a splicing mutation and results in an in frame deletion of the gene
(1 March, 2003) Free
W Hofmann, D Horn, C Hüttner, E Classen, S Scherneck
Neuronal migration defect in a BRCA1 gene carrier: possible focal nullisomy?
(1 March, 2003) Free
D M Eccles, S Barker, D T Pilz, C Kennedy
Little value from including cousins in individual risk assessment of hereditary breast cancer: a simulation study (1 March, 2003) Free
M A Jonker, G H de Bock, W E Hoogendoorn, C J van Asperen, J C van Houwelingen
Comprehensive microsatellite marker analysis contradicts previous report of segmental maternal heterodisomy of chromosome 14 (1 March, 2003) Free
K J Coveler, V R Sutton, C Knox-DuBois, L G Shaffer
Analphoid de novo marker chromosome inv dup(3)(q28qter) with neocentromere in a dysmorphic and developmentally retarded girl (1 March, 2003) Free
G Barbi, C Spaich, S Adolph, H Kehrer-Sawatzki
Partial hexasomy 15pter→15q13 including SNRPN and D15S10: first molecular cytogenetically proven case report
(1 March, 2003) Free
A Nietzel, B Albrecht, H Starke, A Heller, G Gillessen-Kaesbach, U Claussen, T Liehr

Online mutation reports

Novel TBX5 mutations and molecular mechanism for Holt-Oram syndrome
(1 March, 2003) Free
C Fan, M A Duhagon, C Oberti, S Chen, Y Hiroi, I Komuro, P I Duhagon, R Canessa, Q Wang
Frequent genomic disorganisation of MLH1 in hereditary non-polyposis colorectal cancer (HNPCC) screened by RT-PCR on puromycin treated samples
(1 March, 2003) Free
I Sumitsuji, K Sugano, T Matsui, N Fukayama, K Yamaguchi, T Akasu, S Fujita, Y Moriya, R Yokoyama, S Nomura, T Yoshida, T Kodama, M Ogawa
High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil
(1 March, 2003) Free
J C C Rocha, R L A Silva, B B Mendonça, S Marui, A J G Simpson, A A Camargo
A second heterozygous MDR3 nonsense mutation associated with intrahepatic cholestasis of pregnancy
(1 March, 2003) Free
C Gendrot, Y Bacq, M-C Brechot, J Lansac, C Andres

Review article

Nail patella syndrome: a review of the phenotype aided by developmental biology (1 March, 2003) Free
E Sweeney, A Fryer, R Mountford, A Green, I McIntosh

Original articles

A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia
(1 March, 2003) Free
A Cenarro, M Artieda, S Castillo, P Mozas, G Reyes, D Tejedor, R Alonso, P Mata, M Pocoví, F Civeira
Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation (1 March, 2003) Free
J J Cox, S T Holden, S Dee, J I Burbridge, F L Raymond
Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism (1 March, 2003) Free
P J Yong, I J Barrett, D K Kalousek, W P Robinson

Short reports

Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism (1 March, 2003) Free
Y J Crow, D N Black, M Ali, J Bond, A P Jackson, M Lefson, J Michaud, E Roberts, J B P Stephenson, C G Woods, P Lebon
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency (1 March, 2003) Free
M Chol, S Lebon, P Bénit, D Chretien, P de Lonlay, A Goldenberg, S Odent, L Hertz-Pannier, C Vincent-Delorme, V Cormier-Daire, P Rustin, A Rötig, A Munnich
Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene (1 March, 2003) Free
C E Beesley, D Burke, M Jackson, A Vellodi, B G Winchester, E P Young

Letters to JMG

Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases (1 March, 2003) Free
V Cormier-Daire, A L Delezoide, N Philip, P Marcorelles, K Casas, Y Hillion, L Faivre, D L Rimoin, A Munnich, P Maroteaux, M Le Merrer
Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips (1 March, 2003) Free
G R Mortier, P P G Kramer, A Giedion, F A Beemer
Cancer risk in 348 French MSH2 or MLH1 gene carriers
(1 March, 2003) Free
Y Parc, C Boisson, G Thomas, S Olschwang
Haptoglobin and its association with the HELLP syndrome (1 March, 2003) Free
M T M Raijmakers, E M Roes, R H M te Morsche, E A P Steegers, W H M Peters
Significant frequency deviation of the class I polymorphism HLA-A10 in schizophrenic patients (1 March, 2003) Free
B Laumbacher, N Müller, B Bondy, B Schlesinger, S Gu, B Fellerhoff, R Wank
Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay
(1 March, 2003) Free
M Baralle, D Baralle, L De Conti, C Mattocks, J Whittaker, A Knezevich, C ffrench-Constant, F E Baralle
Paternal uniparental disomy in monozygotic twins discordant for hemihypertrophy (1 March, 2003) Free
P M H West, D R Love, P M Stapleton, I M Winship
From Aldrovandi’s “Homuncio” (1592) to Buffon’s girl (1749) and the “Wart Man” of Tilesius (1793): antique illustrations of mosaicism in neurofibromatosis?
(1 March, 2003) Free
M Ruggieri, A Polizzi

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Table of contents

March 2003 - Volume 40 - 3

Electronic letters

Online mutation reports

Review article

Original articles

Short reports

Letters to JMG

Issue Information

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Table of contents

March 2003 - Volume 40 - 3

Electronic letters

Online mutation reports

Review article

Original articles

Short reports

Letters to JMG

Issue Information