Table of contents

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