Human Molecular Genetics

ARTICLES:

LA Clarke, CS Russell, S Pownall, CL Warrington, A Borowski, JE Dimmick, J Toone, and FR Jirik

Murine mucopolysaccharidosis type I: targeted disruption of the murine alpha-L-iduronidase gene
Hum. Mol. Genet. 1997 6: 503-511; doi:10.1093/hmg/6.4.503 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

EN Burright, JD Davidson, LA Duvick, B Koshy, HY Zoghbi, and HT Orr

Identification of a self-association region within the SCA1 gene product, ataxin-1
Hum. Mol. Genet. 1997 6: 513-518; doi:10.1093/hmg/6.4.513 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

RA Montgomery and HC Dietz

Inhibition of fibrillin 1 expression using U1 snRNA as a vehicle for the presentation of antisense targeting sequence
Hum. Mol. Genet. 1997 6: 519-525; doi:10.1093/hmg/6.4.519 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AE Trezise, R Ratcliff, TE Hawkins, MJ Evans, TC Freeman, PR Romano, CF Higgins, and WH Colledge

Co-ordinate regulation of the cystic fibrosis and multidrug resistance genes in cystic fibrosis knockout mice
Hum. Mol. Genet. 1997 6: 527-537; doi:10.1093/hmg/6.4.527 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

PS Rowe, CL Oudet, F Francis, C Sinding, S Pannetier, MJ Econs, TM Strom, T Meitinger, M Garabedian, A David, MA Macher, E Questiaux, E Popowska, E Pronicka, AP Read, A Mokrzycki, FH Glorieux, MK Drezner, A Hanauer, H Lehrach, JN Goulding, and JL O'Riordan

Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP)
Hum. Mol. Genet. 1997 6: 539-549; doi:10.1093/hmg/6.4.539 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MF Moffatt and WO Cookson

Tumour necrosis factor haplotypes and asthma
Hum. Mol. Genet. 1997 6: 551-554; doi:10.1093/hmg/6.4.551 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

ME Ross, KM Allen, AK Srivastava, T Featherstone, JG Gleeson, B Hirsch, BN Harding, E Andermann, R Abdullah, M Berg, D Czapansky-Bielman, DJ Flanders, R Guerrini, J Motte, AP Mira, I Scheffer, S Berkovic, F Scaravilli, RA King, DH Ledbetter, D Schlessinger, WB Dobyns, and CA Walsh

Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain
Hum. Mol. Genet. 1997 6: 555-562; doi:10.1093/hmg/6.4.555 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Nystuen, H Costeff, ON Elpeleg, N Apter, B Bonne-Tamir, H Mohrenweiser, N Haider, EM Stone, and VC Sheffield

Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene
Hum. Mol. Genet. 1997 6: 563-569; doi:10.1093/hmg/6.4.563 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J Nakae, T Tajima, T Sugawara, F Arakane, K Hanaki, T Hotsubo, N Igarashi, Y Igarashi, T Ishii, N Koda, T Kondo, H Kohno, Y Nakagawa, K Tachibana, Y Takeshima, K Tsubouchi, JF Strauss, 3rd, and K Fujieda

Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia
Hum. Mol. Genet. 1997 6: 571-576; doi:10.1093/hmg/6.4.571 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

T Arinami, M Gao, H Hamaguchi, and M Toru

A functional polymorphism in the promoter region of the dopamine D2 receptor gene is associated with schizophrenia
Hum. Mol. Genet. 1997 6: 577-582; doi:10.1093/hmg/6.4.577 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Vaxillaire, M Rouard, K Yamagata, N Oda, PJ Kaisaki, VV Boriraj, JC Chevre, V Boccio, RD Cox, GM Lathrop, P Dussoix, J Philippe, J Timsit, G Charpentier, G Velho, GI Bell, and P Froguel

Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3)
Hum. Mol. Genet. 1997 6: 583-586; doi:10.1093/hmg/6.4.583 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

W Hoppner and MM Ritter

A duplication of 12 bp in the critical cysteine rich domain of the RET proto-oncogene results in a distinct phenotype of multiple endocrine neoplasia type 2A
Hum. Mol. Genet. 1997 6: 587-590; doi:10.1093/hmg/6.4.587 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JD Sharp, RB Wheeler, BD Lake, M Savukoski, IE Jarvela, L Peltonen, RM Gardiner, and RE Williams

Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23
Hum. Mol. Genet. 1997 6: 591-595; doi:10.1093/hmg/6.4.591 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

RE Kelsell, K Evans, CY Gregory, AT Moore, AC Bird, and DM Hunt

Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p
Hum. Mol. Genet. 1997 6: 597-600; doi:10.1093/hmg/6.4.597 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

V Nigro, Y Okazaki, A Belsito, G Piluso, Y Matsuda, L Politano, G Nigro, C Ventura, C Abbondanza, AM Molinari, D Acampora, M Nishimura, Y Hayashizaki, and GA Puca

Identification of the Syrian hamster cardiomyopathy gene
Hum. Mol. Genet. 1997 6: 601-607; doi:10.1093/hmg/6.4.601 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MT Bihoreau, I Ceccherini, J Browne, B Kranzlin, G Romeo, GM Lathrop, MR James, and N Gretz

Location of the first genetic locus, PKDr1, controlling autosomal dominant polycystic kidney disease in Han:SPRD cy/+ rat
Hum. Mol. Genet. 1997 6: 609-613; doi:10.1093/hmg/6.4.609 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

V Tiranti, A Savoia, F Forti, MF D'Apolito, M Centra, M Rocchi, and M Zeviani

Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the Expressed Sequence Tags database
Hum. Mol. Genet. 1997 6: 615-625; doi:10.1093/hmg/6.4.615 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

K Lagerstedt, SL Karsten, BM Carlberg, WJ Kleijer, T Tonnesen, U Pettersson, and ML Bondeson

Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome
Hum. Mol. Genet. 1997 6: 627-633; doi:10.1093/hmg/6.4.627 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

K Christodoulou, M Tsingis, F Deymeer, P Serdaroglu, C Ozdemir, A Al-Shehab, C Bairactaris, I Mavromatis, I Mylonas, A Evoli, K Kyriallis, and LT Middleton

Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity
Hum. Mol. Genet. 1997 6: 635-640; doi:10.1093/hmg/6.4.635 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

I Stoilov, AN Akarsu, and M Sarfarazi

Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21
Hum. Mol. Genet. 1997 6: 641-647; doi:10.1093/hmg/6.4.641 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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