Human Molecular Genetics

ARTICLES:

TW Depinet, JL Zackowski, WC Earnshaw, S Kaffe, GS Sekhon, R Stallard, BA Sullivan, GH Vance, DL Van Dyke, HF Willard, AB Zinn, and S Schwartz

Characterization of neo-centromeres in marker chromosomes lacking detectable alpha-satellite DNA
Hum. Mol. Genet. 1997 6: 1195-1204; doi:10.1093/hmg/6.8.1195 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

DD Coovert, TT Le, PE McAndrew, J Strasswimmer, TO Crawford, JR Mendell, SE Coulson, EJ Androphy, TW Prior, and AH Burghes

The survival motor neuron protein in spinal muscular atrophy
Hum. Mol. Genet. 1997 6: 1205-1214; doi:10.1093/hmg/6.8.1205 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

KE Orii, T Aoyama, K Wakui, Y Fukushima, H Miyajima, S Yamaguchi, T Orii, N Kondo, and T Hashimoto

Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency
Hum. Mol. Genet. 1997 6: 1215-1224; doi:10.1093/hmg/6.8.1215 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

KB Avraham, T Hasson, T Sobe, B Balsara, JR Testa, AB Skvorak, CC Morton, NG Copeland, and NA Jenkins

Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice
Hum. Mol. Genet. 1997 6: 1225-1231; doi:10.1093/hmg/6.8.1225 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

SE Lloyd, W Gunther, SH Pearce, A Thomson, ML Bianchi, M Bosio, IW Craig, SE Fisher, SJ Scheinman, O Wrong, TJ Jentsch, and RV Thakker

Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders
Hum. Mol. Genet. 1997 6: 1233-1239; doi:10.1093/hmg/6.8.1233 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Y Ishikawa-Brush, JF Powell, P Bolton, AP Miller, F Francis, HF Willard, H Lehrach, and AP Monaco

Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3' to the SDC2 gene
Hum. Mol. Genet. 1997 6: 1241-1250; doi:10.1093/hmg/6.8.1241 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

IJ Holt, DR Dunbar, and HT Jacobs

Behaviour of a population of partially duplicated mitochondrial DNA molecules in cell culture: segregation, maintenance and recombination dependent upon nuclear background
Hum. Mol. Genet. 1997 6: 1251-1260; doi:10.1093/hmg/6.8.1251 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

L Montermini, E Andermann, M Labuda, A Richter, M Pandolfo, F Cavalcanti, L Pianese, L Iodice, G Farina, A Monticelli, M Turano, A Filla, G De Michele, and S Cocozza

The Friedreich ataxia GAA triplet repeat: premutation and normal alleles
Hum. Mol. Genet. 1997 6: 1261-1266; doi:10.1093/hmg/6.8.1261 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

P Suvanto, K Wartiovaara, M Lindahl, U Arumae, M Moshnyakov, N Horelli- Kuitunen, MS Airaksinen, A Palotie, H Sariola, and M Saarma

Cloning, mRNA distribution and chromosomal localisation of the gene for glial cell line-derived neurotrophic factor receptor beta, a homologue to GDNFR-alpha
Hum. Mol. Genet. 1997 6: 1267-1273; doi:10.1093/hmg/6.8.1267 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MP Marron, LJ Raffel, HJ Garchon, CO Jacob, M Serrano-Rios, MT Martinez Larrad, WP Teng, Y Park, ZX Zhang, DR Goldstein, YW Tao, G Beaurain, JF Bach, HS Huang, DF Luo, A Zeidler, JI Rotter, MC Yang, T Modilevsky, NK Maclaren, and JX She

Insulin-dependent diabetes mellitus (IDDM) is associated with CTLA4 polymorphisms in multiple ethnic groups
Hum. Mol. Genet. 1997 6: 1275-1282; doi:10.1093/hmg/6.8.1275 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Z Matsuyama, H Kawakami, H Maruyama, Y Izumi, O Komure, F Udaka, M Kameyama, T Nishio, Y Kuroda, M Nishimura, and S Nakamura

Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6)
Hum. Mol. Genet. 1997 6: 1283-1287; doi:10.1093/hmg/6.8.1283 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

O Riess, L Schols, H Bottger, D Nolte, AM Vieira-Saecker, C Schimming, F Kreuz, M Macek, Jr, A Krebsova, Sen Macek M, T Klockgether, C Zuhlke, and FA Laccone

SCA6 is caused by moderate CAG expansion in the alpha1A-voltage- dependent calcium channel gene
Hum. Mol. Genet. 1997 6: 1289-1293; doi:10.1093/hmg/6.8.1289 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

SA Fabb, AF Davies, I Correa, AP Kelly, C Mackie, J Trowsdale, and J Ragoussis

Generation of novel human MHC class II mutant B-cell lines by integrating YAC DNA into a cell line homozygously deleted for the MHC class II region
Hum. Mol. Genet. 1997 6: 1295-1304; doi:10.1093/hmg/6.8.1295 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J Flint, GP Bates, K Clark, A Dorman, D Willingham, BA Roe, G Micklem, DR Higgs, and EJ Louis

Sequence comparison of human and yeast telomeres identifies structurally distinct subtelomeric domains
Hum. Mol. Genet. 1997 6: 1305-1313; doi:10.1093/hmg/6.8.1305 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

F Tamanini, R Willemsen, L van Unen, C Bontekoe, H Galjaard, BA Oostra, and AT Hoogeveen

Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis
Hum. Mol. Genet. 1997 6: 1315-1322; doi:10.1093/hmg/6.8.1315 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

PF Ray, RM Winston, and AH Handyside

XIST expression from the maternal X chromosome in human male preimplantation embryos at the blastocyst stage
Hum. Mol. Genet. 1997 6: 1323-1327; doi:10.1093/hmg/6.8.1323 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

FV Elmslie, M Rees, MP Williamson, M Kerr, MJ Kjeldsen, KA Pang, A Sundqvist, ML Friis, D Chadwick, A Richens, A Covanis, M Santos, A Arzimanoglou, CP Panayiotopoulos, D Curtis, WP Whitehouse, and RM Gardiner

Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q
Hum. Mol. Genet. 1997 6: 1329-1334; doi:10.1093/hmg/6.8.1329 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

RS Houlston, IP Tomlinson, D Ford, S Seal, AM Marossy, A Ferguson, GK Holmes, KB Hosie, PD Howdle, DP Jewell, A Godkin, GD Kerr, P Kumar, RF Logan, AH Love, S Johnston, MN Marsh, S Mitton, D O'Donoghue, A Roberts, JA Walker-Smith, and MF Stratton

Linkage analysis of candidate regions for coeliac disease genes
Hum. Mol. Genet. 1997 6: 1335-1339; doi:10.1093/hmg/6.8.1335 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JW Ellison, Z Wardak, MF Young, P Gehron Robey, M Laig-Webster, and W Chiong

PHOG, a candidate gene for involvement in the short stature of Turner syndrome
Hum. Mol. Genet. 1997 6: 1341-1347; doi:10.1093/hmg/6.8.1341 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

RP Nair, T Henseler, S Jenisch, P Stuart, CK Bichakjian, W Lenk, E Westphal, SW Guo, E Christophers, JJ Voorhees, and JT Elder

Evidence for two psoriasis susceptibility loci (HLA and 17q) and two novel candidate regions (16q and 20p) by genome-wide scan
Hum. Mol. Genet. 1997 6: 1349-1356; doi:10.1093/hmg/6.8.1349 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

D Fernandez-Reyes, AG Craig, SA Kyes, N Peshu, RW Snow, AR Berendt, K Marsh, and CI Newbold

A high frequency African coding polymorphism in the N-terminal domain of ICAM-1 predisposing to cerebral malaria in Kenya
Hum. Mol. Genet. 1997 6: 1357-1360; doi:10.1093/hmg/6.8.1357 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

RM Brown, LJ Otero, and GK Brown

Transfection screening for primary defects in the pyruvate dehydrogenase E1alpha subunit gene
Hum. Mol. Genet. 1997 6: 1361-1367; doi:10.1093/hmg/6.8.1361 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CS Rose, P Patel, W Reardon, S Malcolm, and RM Winter

The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases
Hum. Mol. Genet. 1997 6: 1369-1373; doi:10.1093/hmg/6.8.1369 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MH Shen, J Yang, ML Loupart, A Smith, and W Brown

Human mini-chromosomes in mouse embryonal stem cells
Hum. Mol. Genet. 1997 6: 1375-1382; doi:10.1093/hmg/6.8.1375 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MR Nelen, WC van Staveren, EA Peeters, MB Hassel, RJ Gorlin, H Hamm, CF Lindboe, JP Fryns, RH Sijmons, DG Woods, EC Mariman, GW Padberg, and H Kremer

Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease
Hum. Mol. Genet. 1997 6: 1383-1387; doi:10.1093/hmg/6.8.1383 [Abstract] [FREE 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.