Journal of Medical Genetics: 40 (11)

Electronic letters

Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation
(19 November, 2003)
A Iannaccone, D K Breuer, X F Wang, S F Kuo, E M Normando, E Filippova, A Baldi, S Hiriyanna, C B MacDonald, F Baldi, D Cosgrove, C C Morton, A Swaroop, M M Jablonski
Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism (19 November, 2003)
F J Serajee, R Nabi, H Zhong, A H M Mahbubul Huq
Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families (19 November, 2003)
V Planté-Bordeneuve, J Carayol, A Ferreira, D Adams, F Clerget-Darpoux, M Misrahi, G Said, C Bonaïti-Pellié
Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects (19 November, 2003)
R Zannolli, V Micheli, M A Mazzei, P Sacco, P Piomboni, E Bruni, C Miracco, M M de Santi, P Terrosi Vagnoli, L Volterrani, L Pellegrini, W Livi, B Lucani, S Gonnelli, A B Burlina, G Jacomelli, F Macucci, L Pucci, M Fimiani, J A Swift, M Zappella, G Morgese
Chinese patients with sporadic Hirschsprung’s disease are predominantly represented by a single RET haplotype
(19 November, 2003)
M-M Garcia-Barceló, M-H Sham, V C-H Lui, B L-S Chen, Y-Q Song, W-S Lee, S-K Yung, G Romeo, P K-H Tam

Online mutation reports

Diagnosis of gene dosage alterations at the PMP22 gene using MAPH
(19 November, 2003)
S M Akrami, J S Rowland, G R Taylor, J A L Armour
A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract
(19 November, 2003)
C E Willoughby, Sara Arab, R Gandhi, S Zeinali, Seddigheh Arab, D Luk, G Billingsley, F L Munier, E Héon
Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load (19 November, 2003)
L-J C Wong, C-L Perng, C-H Hsu, R-K Bai, S Schelley, G D Vladutiu, H Vogel, G M Enns
Identification of eight novel NSD1 mutations in Sotos syndrome
(19 November, 2003)
J Kamimura, Y Endo, N Kurotaki, A Kinoshita, N Miyake, O Shimokawa, N Harada, R Visser, H Ohashi, K Miyakawa, J Gerritsen, A M Innes, L Lagace, M Frydman, N Okamoto, R Puttinger, S Raskin, B Resic, V Culic, K Yoshiura, T Ohta, T Kishino, M Ishikawa, N Niikawa, N Matsumoto
High incidence of the R276X SALL1 mutation in sporadic but not familial Townes–Brocks syndrome and report of the first familial case
(19 November, 2003)
J Kohlhase, M Liebers, J Backe, A Baumann-Müller, M Bembea, A Destrée, M Gattas, S Grüßner, T Müller, G Mortier, C Skrypnyk, S Yano, J Wirbelauer, R C Michaelis

Review

Melatonin supplementation for severe and intractable sleep disturbance in young people with genetically determined developmental disabilities: short review and commentary (19 November, 2003)
J Turk

Original articles

Silencing of CDKN1C (p57^KIP2) is associated with hypomethylation at KvDMR1 in Beckwith–Wiedemann syndrome
(19 November, 2003)
N Diaz-Meyer, C D Day, K Khatod, E R Maher, W Cooper, W Reik, C Junien, G Graham, E Algar, V M Der Kaloustian, M J Higgins
Identification of recurrent regions of chromosome loss and gain in vestibular schwannomas using comparative genomic hybridisation (19 November, 2003)
C Warren, L A James, R T Ramsden, A Wallace, M E Baser, J M Varley, D G Evans
Evaluation of breast cancer risk assessment packages in the family history evaluation and screening programme (19 November, 2003)
E Amir, D G Evans, A Shenton, F Lalloo, A Moran, C Boggis, M Wilson, A Howell
A Y chromosomal influence on prostate cancer risk: the multi-ethnic cohort study (19 November, 2003)
S Paracchini, C L Pearce, L N Kolonel, D Altshuler, B E Henderson, C Tyler-Smith

Echoes

Prospective Belgian study of neurodegenerative and vascular dementia: APOE genotype effects (19 November, 2003)
S Engelborghs, B Dermaut, J Goeman, J Saerens, P Mariën, BA Pickut, M Van den Broeck, S Serneels, M Cruts, C Van Broeckhoven, P P De Deyn
IBD5 risk haplotype and CARD15 variants add up to a bigger chance of Crohn’s disease
(19 November, 2003)
Susceptibility to Crohn’s disease may lurk in enzyme mutation (19 November, 2003)
NOD2/CARD15 mutations do not affect early course of Crohn’s disease
(19 November, 2003)
Mutations of the β myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis (19 November, 2003)
A Woo, H Rakowski, J C Liew, M-S Zhao, C-C Liew, T G Parker, M Zeller, E D Wigle, M J Sole
Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX
(19 November, 2003)

Short report

Analysis of the Birt–Hogg–Dubé (BHD) tumour suppressor gene in sporadic renal cell carcinoma and colorectal cancer
(19 November, 2003)
N Fernandes da Silva, D Gentle, L B Hesson, D G Morton, F Latif, E R Maher

Letters to JMG

Confirmation linkage study in support of the X chromosome harbouring a QTL underlying human height variation (19 November, 2003)
Y-Z Liu, F-H Xu, H Shen, H Deng, Y-J Liu, L-J Zhao, V Dvornyk, T Conway, J-L Li, Q-Y Huang, K M Davies, R R Recker, H-W Deng
DFNA49, a novel locus for autosomal dominant non-syndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21-q23 (19 November, 2003)
M A Moreno-Pelayo, S Modamio-Høybjør, A Mencía, I del Castillo, S Chardenoux, M Fernández-Burriel, M Lathrop, C Petit, F Moreno
Linkage of ulcerative colitis to the pericentromeric region of chromosome 16 in Italian inflammatory bowel disease families is independent of the presence of common CARD15 mutations
(19 November, 2003)
V Annese, A Latiano, O Palmieri, H-H Li, P Forabosco, A Ferraris, A Andriulli, M Vecchi, S Ardizzone, M Cottone, B Dallapiccola, E Rappaport, P Fortina, M Devoto
The M98K variant of the OPTINEURIN (OPTN) gene modifies initial intraocular pressure in patients with primary open angle glaucoma (19 November, 2003)
R Melki, A Belmouden, O Akhayat, A Brézin, H-J Garchon
A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype
(19 November, 2003)
D Beltrán-Valero de Bernabé, H van Bokhoven, E van Beusekom, W Van den Akker, S Kant, W B Dobyns, B Cormand, S Currier, B Hamel, B Talim, H Topaloglu, H G Brunner
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14
(19 November, 2003)
F Brancati, E M Valente, G Tadini, V Caputo, A Di Benedetto, C Gelmetti, B Dallapiccola
Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C (19 November, 2003)
J J Shen, C A Brown, J R Lupski, L Potocki
Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son (19 November, 2003)
G Puoti, F Carrara, S Sampaolo, M De Caro, C M Vincitorio, F Invernizzi, M Zeviani

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Table of contents

November 2003 - Volume 40 - 11

Electronic letters

Online mutation reports

Review

Original articles

Echoes

Short report

Letters to JMG

Issue Information

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Table of contents

November 2003 - Volume 40 - 11

Electronic letters

Online mutation reports

Review

Original articles

Echoes

Short report

Letters to JMG

Issue Information