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Original articles

	Clinical studies on submicroscopic subtelomeric rearrangements: a checklist 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, and R M Winter J Med Genet 2001; 38: 145-150. doi:10.1136/jmg.38.3.145 [Abstract] [Full text] [PDF] [Request Permissions]
	Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation P Cerruti Mainardi, C Perfumo, A Calì, G Coucourde, G Pastore, S Cavani, F Zara, J Overhauser, M Pierluigi, and F Dagna Bricarelli J Med Genet 2001; 38: 151-158. doi:10.1136/jmg.38.3.151 [Abstract] [Full text] [PDF] [Request Permissions]
	Male breast cancer in Cowden syndrome patients with germline PTEN mutations James D Fackenthal, Deborah J Marsh, Anne-Louise Richardson, Shelly A Cummings, Charis Eng, Bruce G Robinson, and Olufunmilayo I Olopade J Med Genet 2001; 38: 159-164. doi:10.1136/jmg.38.3.159 [Abstract] [Full text] [PDF] [Request Permissions]
	Association of a novel constitutional translocation t(1q;3q) with familial renal cell carcinoma Hiro-omi Kanayama, Weng-Onn Lui, Masayuki Takahashi, Takushi Naroda, Darek Kedra, Fung Ki Wong, Yoko Kuroki, Yutaka Nakahori, Catharina Larsson, Susumu Kagawa, and Bin Tean Teh J Med Genet 2001; 38: 165-170. doi:10.1136/jmg.38.3.165 [Abstract] [Full text] [PDF] [Request Permissions]
	MECP2 mutation in non-fatal, non-progressive encephalopathy in a male Belaïd Imessaoudene, Jean-Paul Bonnefont, Ghislaine Royer, Valérie Cormier-Daire, Stanislas Lyonnet, Gilles Lyon, Arnold Munnich, and Jeanne Amiel J Med Genet 2001; 38: 171-174. doi:10.1136/jmg.38.3.171 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to the editor

	Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype? BERT B A DE VRIES, SAMANTHA J L KNIGHT, TESSA HOMFRAY, SARAH F SMITHSON, JONATHAN FLINT, and ROBIN M WINTER J Med Genet 2001; 38: 175-178. doi:10.1136/jmg.38.3.175 [Extract] [Full text] [PDF] [Request Permissions]
	Pure partial 7p trisomy including the TWIST, HOXA, and GLI3 genes A MÉGARBANÉ, M LE LORC'H, H ELGHEZAL, G JOLY, P GOSSET, N SOURATY, L SAMARAS, M PRIEUR, M VEKEMANS, C TURLEAU, and S P ROMANA J Med Genet 2001; 38: 178-182. doi:10.1136/jmg.38.3.178 [Extract] [Full text] [Request Permissions]
	Suggestive linkage of situs inversus and other left-right axis anomalies to chromosome 6p E VITALE, V BRANCOLINI, A DE RIENZO, L BIRD, V ALLADA, M SKLANSKY, C U CHAE, G B FERRERO, J WEBER, M DEVOTO, and B CASEY J Med Genet 2001; 38: 182-185. doi:10.1136/jmg.38.3.182 [Extract] [Full text] [Request Permissions]
	Founder effect in multiple endocrine neoplasia type 1 (MEN 1) in Finland 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, and J LEISTI J Med Genet 2001; 38: 185-189. doi:10.1136/jmg.38.3.185 [Extract] [Full text] [Request Permissions]
	Familial non-medullary thyroid cancer in Iceland JÓN HRAFNKELSSON, HRAFN TULINIUS, JÓN GUNNLAUGUR JÓNASSON, and HELGI SIGVALDASON J Med Genet 2001; 38: 189-191. doi:10.1136/jmg.38.3.189 [Extract] [Full text] [Request Permissions]
	Sulphate transporter gene mutations in apparently isolated club foot C HUBER, S ODENT, S RUMEUR, P PADOVANI, C PENET, V CORMIER-DAIRE, A MUNNICH, and M LE MERRER J Med Genet 2001; 38: 191-193. doi:10.1136/jmg.38.3.191 [Extract] [Full text] [Request Permissions]
	Development and application of linkage analysis in genetic diagnosis of familial hypertrophic cardiomyopathy JENS MOGENSEN, PAAL SKYTT ANDERSEN, ULLA STEFFENSEN, MICHAEL CHRISTIANSEN, HENRIK EGEBLAD, NIELS GREGERSEN, and ANDERS DUPONT BØRGLUM J Med Genet 2001; 38: 193-198. doi:10.1136/jmg.38.3.193 [Extract] [Full text] [Request Permissions]
	Genetic heterogeneity and exclusion of a modifying locus at 17p11.2-p11.1 in Finnish families with van der Woude syndrome FUNG KI WONG, HANNELE KOILLINEN, JORMA RAUTIO, BIN TEAN TEH, REIJO RANTA, AGNETA KARSTEN, OLA LARSON, STEN LINDER-ARONSON, JAN HUGGARE, CATHARINA LARSSON, and JUHA KERE J Med Genet 2001; 38: 198-202. doi:10.1136/jmg.38.3.198 [Extract] [Full text] [Request Permissions]
	Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in neonatal hypertrypsinaemia with normal sweat test CARLO CASTELLANI, MARIA GIOVANNA BENETAZZO, ANNA TAMANINI, ANGELA BEGNINI, GIANNI MASTELLA, and PIERFRANCO PIGNATTI J Med Genet 2001; 38: 202-205. doi:10.1136/jmg.38.3.202 [Extract] [Full text] [Request Permissions]
	A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes? VÉRONIQUE PINGAULT, NADÈGE BONDURAND, NICOLE LEMORT, MONICA SANCANDI, ISABELLA CECCHERINI, JEAN-PIERRE HUGOT, PIERRE-SIMON JOUK, and MICHEL GOOSSENS J Med Genet 2001; 38: 205-209. doi:10.1136/jmg.38.3.205 [Extract] [Full text] [Request Permissions]
	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 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, and BEN C J HAMEL J Med Genet 2001; 38: 209-214. doi:10.1136/jmg.38.3.209 [Extract] [Full text] [Request Permissions]
	Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q) BEATE ALBRECHT, SUSANNE MERGENTHALER, KATJA EGGERMANN, KLAUS ZERRES, EBERHARD PASSARGE, and THOMAS EGGERMANN J Med Genet 2001; 38: 214. doi:10.1136/jmg.38.3.214 [Extract] [Full text] [Request Permissions]

Electronic letters

	A new case of exomphalos, short limbs, and macrogonadism syndrome G VIOT, E PANNIER, L FAIVRE, J TANTAU, C FALLET-BIANCO, J M DUPONT, P JOUANNET, M C AUBRY, S LYONNET, and D CABROL J Med Genet 2001; 38: e8. doi:10.1136/jmg.38.3.e8 [Extract] [Full text] [PDF] [Request Permissions]
	A partial deletion of the aspartoacylase gene is the cause of Canavan disease in a family from Mexico FATMA ELA TAHMAZ, SIMA SAM, GEORGE E HOGANSON, and FRANKLIN QUAN J Med Genet 2001; 38: e9. doi:10.1136/jmg.38.3.e9 [Extract] [Full text] [PDF] [Request Permissions]
	Homoplasmic 3316GA in the ND1 gene of the mitochondrial genome: a pathogenic mutation or a neutral polymorphism? CHING-WAN LAM, TAO YANG, MAN-WO TSANG, and CHI-PUI PANG J Med Genet 2001; 38: e10. doi:10.1136/jmg.38.3.e10 [Extract] [Full text] [PDF] [Request Permissions]

To see an article, click its [Full Text] or [PDF] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.