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BMJ Journals

Table of contents

August 2005 - Volume 42 - 8

Journal of Medical Genetics: 42 (8)

Electronic letters

cDNA microarray analysis assists in diagnosis of malignant intrarenal pheochromocytoma originally masquerading as a renal cell carcinoma (1 August, 2005)
M Takahashi, X J Yang, S McWhinney, N Sano, C Eng, S Kagawa, B T Teh, H-O Kanayama
Analysis of the entire HLA region in susceptibility for cervical cancer: a comprehensive study (1 August, 2005)
M Zoodsma, I M Nolte, M Schipper, E Oosterom, G van der Steege, E G E de Vries, G J te Meerman, A G J van der Zee
Arteriovenous malformations in Cowden syndrome (1 August, 2005)
M M Turnbull, V Humeniuk, B Stein, G K Suthers

Online mutation reports

Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism (1 August, 2005)
K J Bradley, B M Cavaco, M R Bowl, B Harding, A Young, R V Thakker
Phenotype variability of neural crest derived tumours in six Italian families segregating the same founder SDHD mutation Q109X
(1 August, 2005)
L Simi, R Sestini, P Ferruzzi, M S Gaglianò, F Gensini, M Mascalchi, L Guerrini, C Pratesi, P Pinzani, G Nesi, T Ercolino, M Genuardi, M Mannelli
Spectrum of splicing errors caused by CHRNE mutations affecting introns and intron/exon boundaries
(1 August, 2005)
K Ohno, A Tsujino, X-M Shen, M Milone, A G Engel

Review

Directly transmitted unbalanced chromosome abnormalities and euchromatic variants (1 August, 2005) Free
J C K Barber

Hypothesis

Age related shift in the mutation spectra of germline and somatic NF2 mutations: hypothetical role of DNA repair mechanisms
(1 August, 2005)
D G R Evans, E R Maher, M E Baser

Original articles

Identification and characterization of missense alterations in the BRCA1 associated RING domain (BARD1) gene in breast and ovarian cancer
(1 August, 2005)
M K Sauer, I L Andrulis
In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients (1 August, 2005)
N Sylvius, Z T Bilinska, J P Veinot, A Fidzianska, P M Bolongo, S Poon, P McKeown, R A Davies, K-L Chan, A S L Tang, S Dyack, J Grzybowski, W Ruzyllo, H McBride, F Tesson
Alternative mechanisms associated with silencing of CDKN1C in Beckwith–Wiedemann syndrome
(1 August, 2005)
N Diaz-Meyer, Y Yang, S N Sait, E R Maher, M J Higgins

Letters to JMG

Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain (1 August, 2005)
G McGillivray, R Savarirayan, T C Cox, C Stojkoski, R McNeil, A Bankier, J F Bateman, T Roscioli, R J M Gardner, S R Lamandé
Genetic linkage of a novel autosomal dominant restrictive cardiomyopathy locus (1 August, 2005)
J Zhang, A Kumar, L Kaplan, F J Fricker, M R Wallace
Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1
(1 August, 2005)
HG Kim, S R Herrick, E Lemyre, S Kishikawa, J A Salisz, S Seminara, M E MacDonald, G A P Bruns, C C Morton, B J Quade, J F Gusella

Issue Information

Table of Contents (PDF)