Journal of Medical Genetics: 40 (1)

Review article

Fanconi anaemia (1 January, 2003) Free
M D Tischkowitz, S V Hodgson

Electronic letters

Early onset asymmetrical intrauterine growth retardation with fetal hypokinesia and variable expression of acral and genitourinary malformations: a new lethal MCA syndrome (1 January, 2003) Free
I Witters, P Moerman, F A Van Assche, J-P Fryns
Hypogonadotrophic hypogonadism, short stature, cerebellar ataxia, rod-cone retinal dystrophy, and hypersegmented neutrophils: a novel disorder or a new variant of Boucher-Neuhauser syndrome? (1 January, 2003) Free
A-K Jbour, A F Mubaidin, M Till, H El-Shanti, A Hadidi, K M Ajlouni
Quality of life in a family based genetic cascade screening programme for familial hypercholesterolaemia: a longitudinal study among participants (1 January, 2003) Free
M C van Maarle, M E A Stouthard, G J Bonsel
No association between the EN2 gene and autistic disorder (1 January, 2003) Free
H Zhong, F J Serajee, R Nabi, A H M Mahbubul Huq
No correlation between phenotype and genotype in boys with a truncating MECP2 mutation (1 January, 2003) Free
K Ravn, J B Nielsen, P Uldall, F J Hansen, M Schwartz
Deletion in the ABL gene resulting from a meiotic recombination of a maternal (3;22;9)(q22;q12;q34.1) translocation (1 January, 2003) Free
A Aboura, P Labrune, F Perreaux, V Poncet, S Brisset, L Foix-L’Helias, G Tachdjian

Online mutation reports

The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene (1 January, 2003) Free
H Jacquet, J Berthelot, C Bonnemains, G Simard, P Saugier-Veber, G Raux, D Campion, D Bonneau, T Frebourg
Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation (1 January, 2003) Free
S Bernal, C Ayuso, G Antiñolo, A Gimenez, S Borrego, M J Trujillo, I Marcos, M Calaf, E Del Rio, M Baiget
CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients (1 January, 2003) Free
R Sitorus, S M Ardjo, B Lorenz, M Preising

Original articles

A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients (1 January, 2003) Free
I Longo, S G M Frints, J-P Fryns, I Meloni, C Pescucci, F Ariani, M Borghgraef, M Raynaud, P Marynen, C Schwartz, A Renieri, G Froyen
The human Y chromosome’s azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men (1 January, 2003) Free
A Ferlin, E Moro, A Rossi, B Dallapiccola, C Foresta
Differential targets of CpG island hypermethylation in primary and metastatic head and neck squamous cell carcinoma (HNSCC) (1 January, 2003) Free
D J Smiraglia, L T Smith, J C Lang, L J Rush, Z Dai, D E Schuller, C Plass

Echo

COPD research is urged to get interactive (1 January, 2003) Free

Short reports

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome (1 January, 2003) Free
L Faivre, R J Gorlin, M K Wirtz, M Godfrey, N Dagoneau, J R Samples, M Le Merrer, G Collod-Beroud, C Boileau, A Munnich, V Cormier-Daire
Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: a new nystagmus locus (1 January, 2003) Free
N K Ragge, C Hartley, A M Dearlove, J Walker, I Russell-Eggitt, C M Harris

Letters to JMG

Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus (1 January, 2003) Free
T J Kirkpatrick, K-S Au, J M Mastrobattista, M E McCready, D E Bulman, H Northrup
Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene (1 January, 2003) Free
R Varga, P M Kelley, B J Keats, A Starr, S M Leal, E Cohn, W J Kimberling
Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene (1 January, 2003) Free
P Höglund, N Kurotaki, S Kytölä, N Miyake, M Somer, N Matsumoto
P63 mutations are not a major cause of non-syndromic split hand/foot malformation (1 January, 2003) Free
X J de Mollerat, D B Everman, C T Morgan, K B Clarkson, R C Rogers, R S Colby, A S Aylsworth, J M Graham, R E Stevenson, C E Schwartz
Beckwith-Wiedemann syndrome and assisted reproduction technology (ART) (1 January, 2003) Free
E R Maher, L A Brueton, S C Bowdin, A Luharia, W Cooper, T R Cole, F Macdonald, J R Sampson, C L Barratt, W Reik, M M Hawkins
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W (1 January, 2003) Free
D Ballhausen, L Bonafé, P Terhal, S L Unger, G Bellus, M Classen, B C Hamel, J Spranger, B Zabel, D H Cohn, W G Cole, J T Hecht, A Superti-Furga
Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome (1 January, 2003) Free
A Vogels, G Matthijs, E Legius, K Devriendt, J-P Fryns
β₁-adrenergic antagonists and melatonin reset the clock and restore sleep in a circadian disorder, Smith-Magenis syndrome (1 January, 2003) Free
H De Leersnyder, J L Bresson, M-C de Blois, J-C Souberbielle, A Mogenet, B Delhotal-Landes, F Salefranque, A Munnich

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Table of contents

January 2003 - Volume 40 - 1

Review article

Electronic letters

Online mutation reports

Original articles

Echo

Short reports

Letters to JMG

Issue Information

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Table of contents

January 2003 - Volume 40 - 1

Review article

Electronic letters

Online mutation reports

Original articles

Echo

Short reports

Letters to JMG

Issue Information