Human Molecular Genetics

ARTICLES:

V des Portes, F Francis, JM Pinard, I Desguerre, ML Moutard, I Snoeck, LC Meiners, F Capron, R Cusmai, S Ricci, J Motte, B Echenne, G Ponsot, O Dulac, J Chelly, and C Beldjord

doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH)
Hum. Mol. Genet. 1998 7: 1063-1070; doi:10.1093/hmg/7.7.1063 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

I Stec, TJ Wright, GJ van Ommen, PA de Boer, A van Haeringen, AF Moorman, MR Altherr, and JT den Dunnen

WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma [published erratum appears in Hum Mol Genet 1998 Sep;7(9):1527]
Hum. Mol. Genet. 1998 7: 1071-1082; doi:10.1093/hmg/7.7.1071 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MG Dunckley, M Manoharan, P Villiet, IC Eperon, and G Dickson

Modification of splicing in the dystrophin gene in cultured Mdx muscle cells by antisense oligoribonucleotides
Hum. Mol. Genet. 1998 7: 1083-1090; doi:10.1093/hmg/7.7.1083 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

D Vollrath, VL Jaramillo-Babb, MV Clough, I McIntosh, KM Scott, PR Lichter, and JE Richards

Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail- patella syndrome [published erratum appears in Hum Mol Genet 1998 Aug;7(8):1333]
Hum. Mol. Genet. 1998 7: 1091-1098; doi:10.1093/hmg/7.7.1091 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

P Van Hauwe, LA Everett, P Coucke, DA Scott, ML Kraft, C Ris-Stalpers, C Bolder, B Otten, JJ de Vijlder, NL Dietrich, A Ramesh, SC Srisailapathy, A Parving, CW Cremers, PJ Willems, RJ Smith, ED Green, and G Van Camp

Two frequent missense mutations in Pendred syndrome
Hum. Mol. Genet. 1998 7: 1099-1104; doi:10.1093/hmg/7.7.1099 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

B Coyle, W Reardon, JA Herbrick, LC Tsui, E Gausden, J Lee, R Coffey, A Grueters, A Grossman4, PD Phelps, L Luxon, P Kendall-Taylor, SW Scherer, and RC Trembath

Molecular analysis of the PDS gene in Pendred syndrome
Hum. Mol. Genet. 1998 7: 1105-1112; doi:10.1093/hmg/7.7.1105 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

SC Kulak, K Kozlowski, EV Semina, WG Pearce, and MA Walter

Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome
Hum. Mol. Genet. 1998 7: 1113-1117; doi:10.1093/hmg/7.7.1113 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Nestorowicz, B Glaser, BA Wilson, SL Shyng, CG Nichols, CA Stanley, PS Thornton, and MA Permutt

Genetic heterogeneity in familial hyperinsulinism [published erratum appears in Hum Mol Genet 1998 Sep;7(9):1527]
Hum. Mol. Genet. 1998 7: 1119-1128; doi:10.1093/hmg/7.7.1119 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

K Yoshida, A Nakamura, M Yazaki, S Ikeda, and S Takeda

Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy
Hum. Mol. Genet. 1998 7: 1129-1132; doi:10.1093/hmg/7.7.1129 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

C Klein, MF Brin, D de Leon, SA Limborska, IA Ivanova-Smolenskaya, SB Bressman, A Friedman, ED Markova, NJ Risch, XO Breakefield, and LJ Ozelius

De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia
Hum. Mol. Genet. 1998 7: 1133-1136; doi:10.1093/hmg/7.7.1133 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J Wen, YS Cong, and S Bacchetti

Reconstitution of wild-type or mutant telomerase activity in telomerase- negative immortal human cells
Hum. Mol. Genet. 1998 7: 1137-1141; doi:10.1093/hmg/7.7.1137 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

FJ Smith, MF Jonkman, H van Goor, CM Coleman, SP Covello, J Uitto, and WH McLean

A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2
Hum. Mol. Genet. 1998 7: 1143-1148; doi:10.1093/hmg/7.7.1143 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Paulsen, KR Davies, LM Bowden, AJ Villar, O Franck, M Fuermann, WL Dean, TF Moore, N Rodrigues, KE Davies, RJ Hu, AP Feinberg, ER Maher, W Reik, and J Walter

Syntenic organization of the mouse distal chromosome 7 imprinting cluster and the Beckwith-Wiedemann syndrome region in chromosome 11p15.5
Hum. Mol. Genet. 1998 7: 1149-1159; doi:10.1093/hmg/7.7.1149 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

R Yavari, C Adida, P Bray-Ward, M Brines, and T Xu

Human metalloprotease-disintegrin Kuzbanian regulates sympathoadrenal cell fate in development and neoplasia
Hum. Mol. Genet. 1998 7: 1161-1167; doi:10.1093/hmg/7.7.1161 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

T Roberts, O Chernova, and JK Cowell

NB4S, a member of the TBC1 domain family of genes, is truncated as a result of a constitutional t(1;10)(p22;q21) chromosome translocation in a patient with stage 4S neuroblastoma
Hum. Mol. Genet. 1998 7: 1169-1178; doi:10.1093/hmg/7.7.1169 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

RE Kelsell, K Gregory-Evans, AM Payne, I Perrault, J Kaplan, RB Yang, DL Garbers, AC Bird, AT Moore, and DM Hunt

Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy
Hum. Mol. Genet. 1998 7: 1179-1184; doi:10.1093/hmg/7.7.1179 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium
Hum. Mol. Genet. 1998 7: 1185-1192; doi:10.1093/hmg/7.7.1185 [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.