Works matching IS 09646906 AND DT 1998 AND VI 7 AND IP 7

Results: 17

Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 7, p. 1113, doi. 10.1093/hmg/7.7.1113

By:

Kulak, Stephen C.;
Kozlowski, Kathy;
Semina, Elena V.;
Pearce, William G.;
Walter, Michael A.

Publication type:

Article

Reconstitution of wild-type or mutant telomerase activity in telomerase-negative immortal human cells.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 7, p. 1137, doi. 10.1093/hmg/7.7.1137

By:

Wen, Jianping;
Cong, Yu‐Sheng;
Bacchetti, Silvia

Publication type:

Article

De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 7, p. 1133, doi. 10.1093/hmg/7.7.1133

By:

Klein, Christine;
Brin, Mitchell F.;
de Leon, Deborah;
Limborska, Svetlana A.;
Ivanova‐Smolenskaya, Irina A.;
Bressman, Susan B.;
Friedman, Andrzej;
Markova, Elena D.;
Risch, Neil J.;
Breakefield, Xandra O.;
Ozelius, Laurie J.

Publication type:

Article

Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 7, p. 1129, doi. 10.1093/hmg/7.7.1129

By:

Yoshida, Kunihiro;
Nakamura, Akinori;
Yazaki, Masahide;
Ikeda, Shu‐ichi;
Takeda, Shin'ichi

Publication type:

Article

Human metalloprotease-disintegrin Kuzbanian regulates sympathoadrenal cell fate in development and neoplasia.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 7, p. 1161, doi. 10.1093/hmg/7.7.1161

By:

Yavari, Reza;
Adida, Colette;
Bray‐Ward, Patricia;
Brines, Michael;
Xu, Tian

Publication type:

Article

A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 7, p. 1143, doi. 10.1093/hmg/7.7.1143

By:

Smith, Frances J. D.;
Jonkman, Marcel F.;
van Goor, Harry;
Coleman, Carrie M.;
Covello, Seana P.;
Uitto, Jouni;
McLean, W. H. Irwin

Publication type:

Article

Modification of splicing in the dystrophin gene in cultured Mdx muscle cells by antisense oligoribonucleotides.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 7, p. 1083, doi. 10.1093/hmg/7.7.1083

By:

Dunckley, Matthew G.;
Manoharan, Muthiah;
Villiet, Pierre;
Eperon, Ian C.;
Dickson, George

Publication type:

Article

Mutations in the retinal guanylate cyclase ( RETGC-1) gene in dominant cone-rod dystrophy.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 7, p. 1179, doi. 10.1093/hmg/7.7.1179

By:

Kelsell, Rosemary E.;
Gregory‐Evans, Kevin;
Payne, Annette M.;
Perrault, Isabelle;
Kaplan, Josseline;
Yang, Ruey‐Bing;
Garbers, David L.;
Bird, Alan C.;
Moore, Anthony T.;
Hunt, David M.

Publication type:

Article

doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH).

Published in:

Human Molecular Genetics, 1998, v. 7, n. 7, p. 1063, doi. 10.1093/hmg/7.7.1063

By:

des Portes, Vincent;
Francis, Fiona;
Pinard, Jean‐Marc;
Desguerre, Isabelle;
Moutard, Marie‐Laure;
Snoeck, Irina;
Meiners, Linda C.;
Capron, François;
Cusmai, Raffaella;
Ricci, Stefano;
Motte, Jacques;
Echenne, Bernard;
Ponsot, Gérard;
Dulac, Olivier;
Chelly, Jamel;
Beldjord, Cherif

Publication type:

Article

WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophiladysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 7, p. 1071, doi. 10.1093/hmg/7.7.1071

By:

Stec, Ingrid;
Wright, Tracy J.;
van Ommen, Gert‐Jan B.;
de Boer, Piet A. J.;
van Haeringen, Arie;
Moorman, Antoon F. M.;
Altherr, Michael R.;
den Dunnen, Johan T.

Publication type:

Article

Two frequent missense mutations in Pendred syndrome.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 7, p. 1099, doi. 10.1093/hmg/7.7.1099

By:

Van Hauwe, Peter;
Everett, Lorraine A.;
Coucke, Paul;
Scott, Daryl A.;
Kraft, Michelle L.;
Ris‐Stalpers, Carrie;
Bolder, Cuny;
Otten, Barto;
de Vijlder, Jan J.M.;
Dietrich, Nicole L.;
Ramesh, Arabandi;
Srisailapathy, Srikumari C. R.;
Parving, Agnete;
Cremers, Cor W. R. J.;
Willems, Patrick J.;
Smith, Richard J. H.;
Green, Eric D.;
Van Camp, Guy

Publication type:

Article

Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS).

Published in:

Human Molecular Genetics, 1998, v. 7, n. 7, p. 1185, doi. 10.1093/hmg/7.7.1185

By:

The Retinoschisis Consortium

Publication type:

Article

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.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 7, p. 1169, doi. 10.1093/hmg/7.7.1169

By:

Roberts, Terry;
Chernova, Olga;
Cowell, John K.

Publication type:

Article

Syntenic organization of the mouse distal chromosome 7 imprinting cluster and the Beckwith-Wiedemann syndrome region in chromosome 11p15.5.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 7, p. 1149, doi. 10.1093/hmg/7.7.1149

By:

Paulsen, Martina;
Davies, Karen R.;
Bowden, Lucy M.;
Villar, Angela J.;
Franck, Olivia;
Fuermann, Martina;
Dean, Wendy L.;
Moore, Tom F.;
Rodrigues, Nanda;
Davies, Kay E.;
Hu, Ren‐J.;
Feinberg, Andrew P.;
Maher, Eamonn R.;
Reik, Wolf;
Walter, Jörn

Publication type:

Article

Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 7, p. 1091, doi. 10.1093/hmg/7.7.1091

By:

Vollrath, Douglas;
Jaramillo‐Babb, Virna L.;
Clough, Mark V.;
McIntosh, Iain;
Scott, Kathleen M.;
Lichter, Paul R.;
Richards, Julia E.

Publication type:

Article

Genetic heterogeneity in familial hyperinsulinism.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 7, p. 1119, doi. 10.1093/hmg/7.7.1119

By:

Nestorowicz, Ann;
Glaser, Benjamin;
Wilson, Beth A.;
Shyng, Show‐Ling;
Nichols, Colin G.;
Stanley, Charles A.;
Thornton, Paul S.;
Permutt, M. Alan

Publication type:

Article

Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre).

Published in:

Human Molecular Genetics, 1998, v. 7, n. 7, p. 1105, doi. 10.1093/hmg/7.7.1105

By:

Coyle, Beth;
Reardon, William;
Herbrick, Jo‐Anne;
Tsui, Lap‐Chee;
Gausden, Eleanor;
Lee, Jeffrey;
Coffey, Rebecca;
Grueters, Annette;
Grossman, Ashley;
Phelps, Peter D.;
Luxon, Linda;
Kendall‐Taylor, Pat;
Scherer, Stephen W.;
Trembath, Richard C.

Publication type:

Article