Journal of Medical Genetics: 41 (6)

Electronic letters

Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia
(1 June, 2004) Free
R Giorda, A Cerritello, M C Bonaglia, S Bova, G Lanzi, E Repetti, S Giglio, C Baschirotto, T Pramparo, L Avolio, R Bragheri, P Maraschio, O Zuffardi
Site directed mutagenesis of hMLH1 exonic splicing enhancers does not correlate with splicing disruption (1 June, 2004) Free
P Lastella, N Resta, I Miccolis, A Quagliarella, G Guanti, A Stella
A mitochondrial DNA duplication as a marker of skeletal muscle specific mutations in the mitochondrial genome (1 June, 2004) Free
M Mancuso, C Vives-Bauza, M Filosto, R Marti, A Solano, J Montoya, J Gamez, S DiMauro, A L Andreu
Haplotype analysis of human AMPD1 gene: origin of common mutant allele
(1 June, 2004) Free
K Toyama, H Morisaki, Y Kitamura, M Gross, T Tamura, Y Nakahori, J M Vance, M Speer, N Kamatani, T Morisaki
Spontaneous recovery of a childhood onset mitochondrial myopathy caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene (1 June, 2004) Free
R Horváth, H Lochmüller, M Hoeltzenbein, J Müller-Höcker, B G Schoser, D Pongratz, M Jaksch
Genetic influences on the circulating cytokines involved in osteoclastogenesis (1 June, 2004) Free
G Livshits, I Pantsulaia, S Trofimov, E Kobyliansky
A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation (1 June, 2004) Free
D Genevieve, C Baumann, C Huber, L Faivre, D Sanlaville, C Bodemer, S Hadj-Rabia, A Assoumou, A Verloes, F Raqbi, A Munnich, V Cormier-Daire
Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations (1 June, 2004) Free
M Holder-Espinasse, F Escande, E Mayrargue, A Dieux-Coeslier, D Fron, A Doual-Bisser, O Boute-Benejean, Y Robert, N Porchet, S Manouvrier-Hanu
Evidence of differing genotypic effects of PPARα in women and men (1 June, 2004) Free
Q H Khan, D E Pontefract, S Iyengar, S Ye
Y-linked inheritance of non-syndromic hearing impairment in a large Chinese family (1 June, 2004) Free
Q J Wang, C Y Lu, N Li, S Q Rao, Y B Shi, D Y Han, X Li, J Y Cao, L M Yu, Q Z Li, M X Guan, W Y Yang, Y Shen

Online mutation reports

Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms (1 June, 2004) Free
L Cremonesi, A Cozzi, D Girelli, F Ferrari, I Fermo, B Foglieni, S Levi, C Bozzini, M Camparini, M Ferrari, P Arosio
Clusters of non-truncating mutations of P/Q type Ca²⁺ channel subunit Ca_v2.1 causing episodic ataxia 2
(1 June, 2004) Free
E Mantuano, L Veneziano, M Spadaro, P Giunti, S Guida, M G Leggio, L Verriello, N Wood, C Jodice, M Frontali
A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri–Weill dyschondrosteosis and Langer dysplasia
(1 June, 2004) Free
N Sabherwal, R J Blaschke, A Marchini, D Heine-Suner, J Rosell, J Ferragut, W F Blum, G Rappold
Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome (1 June, 2004) Free
V Fremeaux-Bacchi, M-A Dragon-Durey, J Blouin, C Vigneau, D Kuypers, B Boudailliez, C Loirat, E Rondeau, W H Fridman
Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases
(1 June, 2004) Free
F Kammoun, N de Roux, O Boespflug-Tanguy, L Vallée, R Seng, M Tardieu, P Landrieu
P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome
(1 June, 2004) Free
N A Garrison, Z Yi, O Cohen-Barak, M Huizing, L M Hartnell, W A Gahl, M H Brilliant
Broader geographical spectrum of Cohen syndrome due to COH1 mutations
(1 June, 2004) Free
G H Mochida, A Rajab, W Eyaid, A Lu, D Al-Nouri, K Kosaki, M Noruzinia, P Sarda, J Ishihara, A Bodell, K Apse, C A Walsh
A germline mutation in KIT in familial diffuse cutaneous mastocytosis
(1 June, 2004) Free
X Tang, M Boxer, A Drummond, P Ogston, M Hodgins, A D Burden
Germline mutations of the E-cadherin(CDH1) and TP53 genes, rather than of RUNX3 and HPP1, contribute to genetic predisposition in German gastric cancer patients
(1 June, 2004) Free
G Keller, H Vogelsang, I Becker, S Plaschke, K Ott, G Suriano, A R Mateus, R Seruca, K Biedermann, D Huntsman, C Döring, E Holinski-Feder, A Neutzling, J R Siewert, H Höfler

Hypothesis

DFNA5: hearing impairment exon instead of hearing impairment gene?
(1 June, 2004) Free
L Van Laer, K Vrijens, S Thys, V F I Van Tendeloo, R J H Smith, D R Van Bockstaele, J-P Timmermans, G Van Camp

Original articles

Evidence for interaction between the TCO and NMTC1 loci in familial non-medullary thyroid cancer
(1 June, 2004) Free
J D McKay, D Thompson, F Lesueur, K Stankov, A Pastore, C Watfah, S Strolz, G Riccabona, R Moncayo, G Romeo, D E Goldgar
Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion (1 June, 2004) Free
A Baumer, M Riegel, A Schinzel

Short report

Prospective risk of cancer in CDKN2A germline mutation carriers
(1 June, 2004) Free
A M Goldstein, J P Struewing, M C Fraser, M W Smith, M A Tucker

Letters to JMG

High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation (1 June, 2004) Free
J A Veltman, H G Yntema, D Lugtenberg, H Arts, S Briault, E H L P G Huys, K Osoegawa, P de Jong, H G Brunner, A Geurts van Kessel, H van Bokhoven, E F P M Schoenmakers
Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes (1 June, 2004) Free
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, R C Trembath
Familial X/Y translocations associated with variable sexual phenotype (1 June, 2004) Free
A Sharp, K Kusz, J Jaruzelska, M Szarras-Czapnik, J Wolski, P Jacobs
Estimating the age of rare disease mutations: the example of Triple-A syndrome (1 June, 2004) Free
E Genin, A Tullio-Pelet, F Begeot, S Lyonnet, L Abel
A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22–24
(1 June, 2004) Free
K Van Den Bogaert, E M R De Leenheer, W Chen, Y Lee, P Nürnberg, R J E Pennings, K Vanderstraeten, M Thys, C W R J Cremers, R J H Smith, G Van Camp
5,10-methylenetetrahydrofolate reductase (MTHFR) 677C→T and 1298A→C mutations are associated with DNA hypomethylation (1 June, 2004) Free
R Castro, I Rivera, P Ravasco, M E Camilo, C Jakobs, H J Blom, I T de Almeida
Genetic analysis of PSORS2 markers in a UK dataset supports the association between RAPTOR SNPs and familial psoriasis (1 June, 2004) Free
F Capon, C Helms, C D Veal, D Tillman, A D Burden, J N Barker, A M Bowcock, R C Trembath
Systematic micro-array based identification of placental mRNA in maternal plasma: towards non-invasive prenatal gene expression profiling (1 June, 2004) Free
N B Y Tsui, S S C Chim, R W K Chiu, T K Lau, E K O Ng, T N Leung, Y K Tong, K C A Chan, Y M D Lo
An autosomal recessive cone–rod dystrophy associated with amelogenesis imperfecta (1 June, 2004) Free
M Michaelides, A Bloch-Zupan, G E Holder, D M Hunt, A T Moore

Medical genetics in practice

A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO
(1 June, 2004) Free
D G R Evans, D M Eccles, N Rahman, K Young, M Bulman, E Amir, A Shenton, A Howell, F Lalloo

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Table of contents

June 2004 - Volume 41 - 6

Electronic letters

Online mutation reports

Hypothesis

Original articles

Short report

Letters to JMG

Medical genetics in practice

Issue Information

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Table of contents

June 2004 - Volume 41 - 6

Electronic letters

Online mutation reports

Hypothesis

Original articles

Short report

Letters to JMG

Medical genetics in practice

Issue Information