Works matching IS 09646906 AND DT 1996 AND VI 5 AND IP 3

Results: 16

Endothelin-B Receptor Mutations in Patients with Isolated Hirschsprung Disease from a Non-Inbred Population.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 3, p. 351, doi. 10.1093/hmg/5.3.351

By:

Auricchio, Alberto;
Casari, Giorgio;
Staiano, Annamaria;
Ballabio, Andrea

Publication type:

Article

Large Homozygous Deletions of the 2q13 Region Are a Major Cause of Juvenile Nephronophthisis.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 3, p. 367, doi. 10.1093/hmg/5.3.367

By:

Konrad, Martin;
Saunier, Sophie;
Heidet, Laurence;
Silbermann, Flora;
Benessy, France;
Calado, Joaquim;
Le Paslier, Denis;
Broyer, Michel;
Gubler, Marie-Claire;
Antignac, Corinne

Publication type:

Article

cDNA Cloning and Expression of rsca1, the Rat Counterpart of the Human Spinocerebellar Ataxia Type 1 Gene.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 3, p. 381, doi. 10.1093/hmg/5.3.381

By:

Gossen, Martin;
Schmitt, Ina;
Obst, Kirstin;
Wahle, Petra;
Epplen, Jörg T.;
Riess, Olaf

Publication type:

Article

A Locus for Autosomal Dominant Anterior Polar Cataract on Chromosome 17p.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 3, p. 415, doi. 10.1093/hmg/5.3.415

By:

Berry, Vanita;
lonides, Alexander C. W.;
Moore, Anthony T.;
Plant, Catherine;
Bhattacharya, Shomi S.;
Shiels, Alan

Publication type:

Article

A Radiation Hybrid Map of the Human Genome.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 3, p. 339, doi. 10.1093/hmg/5.3.339

By:

Gyapay, Gabor;
Schmitt, Karin;
Fizames, Cécile;
Jones, Hywel;
Vega-Czarny, Nathalie;
Spillett, Dominique;
Muselet, Delphine;
Prud'Homme, Jean-François;
Dib, Colette;
Auffray, Charles;
Morissette, Jean;
Weissenbach, Jean;
Goodfellow, Peter N.

Publication type:

Article

Localization of a Non-Specific X-linked Mental Retardation Gene, MRX23, to Xq23–q24.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 3, p. 411, doi. 10.1093/hmg/5.3.411

By:

Gregg, Ronald G.;
Palmer, Christina;
Kirkpatrick, Susan;
Simantel, Amy

Publication type:

Article

Novel Mutations of the Endothelin-B Receptor Gene in Isolated Patients with Hirschsprung'S Disease.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 3, p. 347, doi. 10.1093/hmg/5.3.347

By:

Kusafuka, Takeshi;
Wang, Yiping;
Puri, Prem

Publication type:

Article

Characterization of Survival Motor Neuron (SMNT) Gene Deletions in Asymptomatic Carriers of Spinal Muscular Atrophy.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 3, p. 359, doi. 10.1093/hmg/5.3.359

By:

Wang, Ching H.;
Xu, Jin;
Carter, Todd A.;
Ross, Barbara M.;
Dominski, Mary K.;
Bellcross, Cecelia A.;
Penchaszadeh, Graciela K.;
Munsat, Theodore L.;
Conrad Gilliam, T.

Publication type:

Article

A Unique Origin and Multistep Process for the Generation of Expanded DRPLA Triplet Repeats.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 3, p. 373, doi. 10.1093/hmg/5.3.373

By:

Yanagisawa, Hiroko;
Fujii, Katsura;
Nagafuchi, Shigeo;
Nakahori, Yutaka;
Nakagome, Yasuo;
Akane, Atsushi;
Nakamura, Masataka;
Sano, Akira;
Komure, Osamu;
Kondo, Ikuko;
Kyu Jin, Dong;
Sørensen, Sven A.;
Potter, Nicholas T.;
Robert Young, S.;
Nakamura, Koichiro;
Nukina, Nobuyuki;
Nagao, Yoshiro;
Tadokoro, Keiko;
Okuyama, Torayuki;
Miyashita, Toshiyuki

Publication type:

Article

Haplotype and Interspersion Analysis of the FMR1 CGG Repeat Identifies Two Different Mutational Pathways for the Origin of the Fragile X Syndrome.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 3, p. 319, doi. 10.1093/hmg/5.3.319

By:

Eichler, Evan E.;
Macpherson, James N.;
Murray, Anna;
Jacobs, Patricia A.;
Chakravarti, Aravinda;
Nelson, David L.

Publication type:

Article

A Human Modifier of Methylation for Class I HLA Genes (Memo-1) Maps to Chromosomal Bands 1p35–36.1.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 3, p. 309, doi. 10.1093/hmg/5.3.309

By:

Cheng, N. C.;
Chan, A. J. K.;
Beitsma, M. M.;
Speleman, F.;
Westerveld, A.;
Versteeg, R.

Publication type:

Article

Mutations in the Protoporphyrinogen Oxidase Gene in Patients with Variegate Porphyria.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 3, p. 407, doi. 10.1093/hmg/5.3.407

By:

Deybach, Jean-Charles;
Puy, Hervé;
Robréau, Anne-Marie;
Lamoril, Jérôme;
Da Silva, Vasco;
Grandchamp, Bernard;
Nordmann, Yves

Publication type:

Article

X Inactivation Analysis and DNA Methylation Studies of the Ubiquitin Activating Enzyme E1 and PCTAIRE-1 Genes in Human and Mouse.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 3, p. 391, doi. 10.1093/hmg/5.3.391

By:

Carrel, Laura;
Clemson, Christine M.;
Dunn, John M.;
Miller, Andrew P.;
Hunt, Patricia A.;
Lawrence, Jeanne B.;
Willard, Huntington F.

Publication type:

Article

Heterozygous Endothelin Receptor B (EDNRBMutations in Isolated Hirschsprung Disease.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 3, p. 355, doi. 10.1093/hmg/5.3.355

By:

Amiel, Jeanne;
Attié, Tania;
Jan, Dominique;
Pelet, Anna;
Edery, Patrick;
Bidaud, Christelle;
Lacombe, Didier;
Tam, Paul;
Simeoni, Juliette;
Flori, Elisabeth;
Nihoul-Fékété, Claire;
Munnich, Arnold;
Lyonnet, Stanislas

Publication type:

Article

Chaperonin-mediated Assembly of Wild-Type and Mutant Subunits of Human Propionyl-CoA Carboxylase Expressed in Escherichia Coli.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 3, p. 331, doi. 10.1093/hmg/5.3.331

By:

Kelson, Todd L.;
Ohura, Toshihiro;
Kraus, Jan P.

Publication type:

Article

Dopa-Responsive Dystonia in British Patients: New Mutations of the GTP-Cyclohydrolase I Gene and Evidence for Genetic Heterogeneity.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 3, p. 403, doi. 10.1093/hmg/5.3.403

By:

Bandmann, Oliver;
Nygaard, Torbjoern G.;
Surtees, Robert;
David Marsden, C.;
Wood, Nicholas W.;
Harding, Anita E.

Publication type:

Article