Journal of Medical Genetics: 38 (3)

Electronic letters

A new case of exomphalos, short limbs, and macrogonadism syndrome (1 March, 2001) Free
G VIOT, E PANNIER, L FAIVRE, J TANTAU, C FALLET-BIANCO, J M DUPONT, P JOUANNET, M C AUBRY, S LYONNET, D CABROL
A partial deletion of the aspartoacylase gene is the cause of Canavan disease in a family from Mexico (1 March, 2001) Free
FATMA ELA TAHMAZ, SIMA SAM, GEORGE E HOGANSON, FRANKLIN QUAN
Homoplasmic 3316G→A in the ND1 gene of the mitochondrial genome: a pathogenic mutation or a neutral polymorphism? (1 March, 2001) Free
CHING-WAN LAM, TAO YANG, MAN-WO TSANG, CHI-PUI PANG

Original articles

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist (1 March, 2001) Free
B B A de Vries, S M White, S J L Knight, R Regan, T Homfray, I D Young, M Super, C McKeown, M Splitt, O W J Quarrell, A H Trainer, M F Niermeijer, S Malcolm, J Flint, J A Hurst, R M Winter
Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation (1 March, 2001) Free
P Cerruti Mainardi, C Perfumo, A Calì, G Coucourde, G Pastore, S Cavani, F Zara, J Overhauser, M Pierluigi, F Dagna Bricarelli
Male breast cancer in Cowden syndrome patients with germlinePTEN mutations (1 March, 2001) Free
James D Fackenthal, Deborah J Marsh, Anne-Louise Richardson, Shelly A Cummings, Charis Eng, Bruce G Robinson, Olufunmilayo I Olopade
Association of a novel constitutional translocation t(1q;3q) with familial renal cell carcinoma (1 March, 2001) Free
Hiro-omi Kanayama, Weng-Onn Lui, Masayuki Takahashi, Takushi Naroda, Darek Kedra, Fung Ki Wong, Yoko Kuroki, Yutaka Nakahori, Catharina Larsson, Susumu Kagawa, Bin Tean Teh
MECP2 mutation in non-fatal, non-progressive encephalopathy in a male (1 March, 2001) Free
Belaïd Imessaoudene, Jean-Paul Bonnefont, Ghislaine Royer, Valérie Cormier-Daire, Stanislas Lyonnet, Gilles Lyon, Arnold Munnich, Jeanne Amiel

Letters to the editor

Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype? (1 March, 2001) Free
BERT B A DE VRIES, SAMANTHA J L KNIGHT, TESSA HOMFRAY, SARAH F SMITHSON, JONATHAN FLINT, ROBIN M WINTER
Pure partial 7p trisomy including the TWIST,HOXA, and GLI3genes (1 March, 2001) Free
A MÉGARBANÉ, M LE LORC'H, H ELGHEZAL, G JOLY, P GOSSET, N SOURATY, L SAMARAS, M PRIEUR, M VEKEMANS, C TURLEAU, S P ROMANA
Suggestive linkage of situs inversus and other left-right axis anomalies to chromosome 6p (1 March, 2001) Free
E VITALE, V BRANCOLINI, A DE RIENZO, L BIRD, V ALLADA, M SKLANSKY, C U CHAE, G B FERRERO, J WEBER, M DEVOTO, B CASEY
Founder effect in multiple endocrine neoplasia type 1 (MEN 1) in Finland (1 March, 2001) Free
S KYTÖLÄ, A VILLABLANCA, T EBELING, B NORD, C LARSSON, A HÖÖG, F K WONG, M VÄLIMÄKI, O VIERIMAA, B T TEH, P I SALMELA, J LEISTI
Familial non-medullary thyroid cancer in Iceland (1 March, 2001) Free
JÓN HRAFNKELSSON, HRAFN TULINIUS, JÓN GUNNLAUGUR JÓNASSON, GU∂RÍ∂UR ÓLAFSDÓTTIR, HELGI SIGVALDASON
Sulphate transporter gene mutations in apparently isolated club foot (1 March, 2001) Free
C HUBER, S ODENT, S RUMEUR, P PADOVANI, C PENET, V CORMIER-DAIRE, A MUNNICH, M LE MERRER
Development and application of linkage analysis in genetic diagnosis of familial hypertrophic cardiomyopathy (1 March, 2001) Free
JENS MOGENSEN, PAAL SKYTT ANDERSEN, ULLA STEFFENSEN, MICHAEL CHRISTIANSEN, HENRIK EGEBLAD, NIELS GREGERSEN, ANDERS DUPONT BØRGLUM
Genetic heterogeneity and exclusion of a modifying locus at 17p11.2-p11.1 in Finnish families with van der Woude syndrome (1 March, 2001) Free
FUNG KI WONG, HANNELE KOILLINEN, JORMA RAUTIO, BIN TEAN TEH, REIJO RANTA, AGNETA KARSTEN, OLA LARSON, STEN LINDER-ARONSON, JAN HUGGARE, CATHARINA LARSSON, JUHA KERE
Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in neonatal hypertrypsinaemia with normal sweat test (1 March, 2001) Free
CARLO CASTELLANI, MARIA GIOVANNA BENETAZZO, ANNA TAMANINI, ANGELA BEGNINI, GIANNI MASTELLA, PIERFRANCO PIGNATTI
A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect ofEDN3/EDNRB gene mutations on neurocristopathy phenotypes? (1 March, 2001) Free
VÉRONIQUE PINGAULT, NADÈGE BONDURAND, NICOLE LEMORT, MONICA SANCANDI, ISABELLA CECCHERINI, JEAN-PIERRE HUGOT, PIERRE-SIMON JOUK, MICHEL GOOSSENS
The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome (1 March, 2001) Free
ERNIE M H F BONGERS, HANS VAN BOKHOVEN, MARIE-NOËLLE VAN THIENEN, MARINUS A P KOOYMAN, SYLVIA E C VAN BEERSUM, CARLA BOETES, NINE V A M KNOERS, BEN C J HAMEL
Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q) (1 March, 2001) Free
BEATE ALBRECHT, SUSANNE MERGENTHALER, KATJA EGGERMANN, KLAUS ZERRES, EBERHARD PASSARGE, THOMAS EGGERMANN

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March 2001 - Volume 38 - 3

Electronic letters

Original articles

Letters to the editor

Issue Information

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Table of contents

March 2001 - Volume 38 - 3

Electronic letters

Original articles

Letters to the editor

Issue Information