Journal of Medical Genetics: 40 (10)

Electronic letters

Evaluation of genotype-phenotype correlations in neurofibromatosis type 1 (20 October, 2003) Free
B Castle, M E Baser, S M Huson, D N Cooper, M Upadhyaya
CHEK2 1100delC and colorectal cancer
(20 October, 2003) Free
O Kilpivaara, P Laiho, L A Aaltonen, H Nevanlinna
PTEN hamartoma tumour syndrome: variability of an entity
(20 October, 2003) Free
J H M Merks, L S de Vries, X-P Zhou, P Nikkels, P G Barth, C Eng, R C M Hennekam
Prader-Willi syndrome: the psychopathological phenotype in uniparental disomy (20 October, 2003) Free
W M A Verhoeven, S Tuinier, L M G Curfs
An alternative to FISH: detecting deletion and duplication carriers within 24 hours (20 October, 2003) Free
S J White, E Sterrenburg, G-J B van Ommen, J T den Dunnen, M H Breuning

Online mutation reports

The effect of sequence variations within the coding region of the C1 inhibitor gene on disease expression and protein function in families with hereditary angio-oedema (20 October, 2003) Free
S-A Cumming, D J Halsall, P W Ewan, D A Lomas
A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B
(20 October, 2003) Free
A Todorova, B Halliger-Keller, M C Walter, M-C Dabauvalle, H Lochmüller, C R Müller
Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region (20 October, 2003) Free
H Kehrer-Sawatzki, S Tinschert, D E Jenne
BRCA1 c.2845insA is a recurring mutation with a founder effect in Singapore Malay women with early onset breast/ovarian cancer
(20 October, 2003)
J-H Sng, A B Ali, S C Lee, D Zahar, J E L Wong, V Blake, A Sharif, G Cross, P T C Iau

Review

In vivo reversion to normal of inherited mutations in humans (20 October, 2003) Free
R Hirschhorn

Original articles

Mapping of a new locus for autosomal recessive non-syndromic mental retardation in the chromosomal region 19p13.12-p13.2: further genetic heterogeneity (20 October, 2003) Free
L Basel-Vanagaite, A Alkelai, R Straussberg, N Magal, D Inbar, M Mahajna, M Shohat
Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype
(20 October, 2003) Free
M G de Silva, K Elliott, H-H Dahl, E Fitzpatrick, S Wilcox, M Delatycki, R Williamson, D Efron, M Lynch, S Forrest
Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia (20 October, 2003) Free
M Ridanpää, L M Ward, S Rockas, M Särkioja, H Mäkelä, M Susic, F H Glorieux, W G Cole, O Mäkitie

Echoes

Age at onset and female sex typify primary congenital glaucoma with CYP1B1 mutation
(20 October, 2003) Free
Transplanting CY282 heterozygous livers is risky
(20 October, 2003) Free
Finns with CARD15/N0D2 variants have more familial and invasive coeliac disease
(20 October, 2003) Free
Genetic influences in gastro-oesophageal reflux disease: a twin study (20 October, 2003) Free
I Mohammed, L F Cherkas, S A Riley, T D Spector, N J Trudgill
Genotype-phenotype analysis of the Crohn’s disease susceptibility haplotype on chromosome 5q31 (20 October, 2003) Free
A Armuzzi, T Ahmad, K-L Ling, A de Silva, S Cullen, D van Heel, T R Orchard, K I Welsh, S E Marshall, D P Jewell

Short report

Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13 (20 October, 2003) Free
P J Coucke, M W Wessels, P Van Acker, R Gardella, S Barlati, P J Willems, M Colombi, A De Paepe

Letters to JMG

A tRNA^Ala mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy
(20 October, 2003) Free
R Horváth, H Lochmüller, C Scharfe, B H Do, P J Oefner, J Müller-Höcker, B G Schoser, D Pongratz, D P Auer, M Jaksch
Genotype-phenotype correlations for cataracts in neurofibromatosis 2 (20 October, 2003) Free
M E Baser, L Kuramoto, H Joe, J M Friedman, A J Wallace, R T Ramsden, D G R Evans
Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene
(20 October, 2003) Free
T W Kuijpers, M Ridanpää, M Peters, I de Boer, J M J J Vossen, S T Pals, I Kaitila, R C M Hennekam
Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III (20 October, 2003) Free
S L Ness, T Ben-Yosef, A Bar-Lev, A C Madeo, C C Brewer, K B Avraham, R Kornreich, R J Desnick, J P Willner, T B Friedman, A J Griffith
Effect of the peroxisome proliferator activated receptor-γ gene Pro12Ala variant on body mass index: a meta-analysis (20 October, 2003) Free
S Masud, S Ye
Receptor mediated effect of serotonergic transmission in patients with bipolar affective disorder (20 October, 2003) Free
Y M J Lin, H C Yang, T J Lai, C S J Fann, H S Sun
A twofold increase in BRCA mutation related prostate cancer among Ashkenazi Israelis is not associated with distinctive histopathology
(20 October, 2003) Free
R M Giusti, J L Rutter, P H Duray, L S Freedman, M Konichezky, J Fisher-Fischbein, M H Greene, B Maslansky, A Fischbein, S B Gruber, G Rennert, R D Ronchetti, S M Hewitt, J P Struewing, J Iscovich

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Table of contents

October 2003 - Volume 40 - 10

Electronic letters

Online mutation reports

Review

Original articles

Echoes

Short report

Letters to JMG

Issue Information

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Table of contents

October 2003 - Volume 40 - 10

Electronic letters

Online mutation reports

Review

Original articles

Echoes

Short report

Letters to JMG

Issue Information