Works matching IS 09646906 AND DT 1996 AND VI 5 AND IP 4

Results: 19

Cloning and Characterization of the Human Homologue of a Dystrophin Related Phosphoprotein Found at the Torpedo Electric Organ Post-Synaptic Membrane.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 4, p. 489, doi. 10.1093/hmg/5.4.489

By:

Sadoulet-Puccio, Hélène M.;
Khurana, Tejvir S.;
Cohen, Jonathan B.;
Kunkel, Louis M.

Publication type:

Article

Partial Characterisation of Murine Huntingtin and Apparent Variations in the Subcellular Localisation of Huntingtin in Human, Mouse and Rat Brain.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 4, p. 481, doi. 10.1093/hmg/5.4.481

By:

Wood, Jonathan D.;
MacMillan, John C.;
Harper, Peter S.;
Lowenstein, Pedro R.;
Jones, A. Lesley

Publication type:

Article

Cloning and Characterization of Human Very-Long-Chain Acyl-CoA Dehydrogenase cDNA, Chromosomal Assignment of the Gene and Identification in Four Patients of Nine Different Mutations Within the VLCAD Gene.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 4, p. 461, doi. 10.1093/hmg/5.4.461

By:

Andresen, Brage Storstein;
Bross, Peter;
Vianey-Saban, Christine;
Divry, Priscille;
Zabot, Marie-Thérèse;
Roe, Charles R.;
Nada, Mohamed A.;
Byskov, Annette;
Kruse, Torben A.;
Neve, Søren;
Kristiansen, Karsten;
Knudsen, Inga;
Corydon, Morten Juhl;
Gregersen, Niels

Publication type:

Article

A Ubiquitin C-Terminal Hydrolase Gene on the Proximal Short Arm of the X Chromosome: Implications for X-Linked Retinal Disorders.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 4, p. 533, doi. 10.1093/hmg/5.4.533

By:

Swanson, Deborah A.;
Freund, Carol L.;
Ploder, Lynda;
McInnes, Roderick R.;
Valle, David

Publication type:

Article

A Murine Homologue of the Human Daz Gene Is Autosomal and Expressed only in Male and Female Gonads.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 4, p. 513, doi. 10.1093/hmg/5.4.513

By:

Cooke, Howard J.;
Lee, Muriel;
Kerr, Shona;
Ruggiu, Matteo

Publication type:

Article

A Cerebellar Ataxia Locus Identified by DNA Pooling to Search for Linkage Disequilibrium in an Isolated Population from the Cayman Islands.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 4, p. 525, doi. 10.1093/hmg/5.4.525

By:

Nystuen, Arne;
Benke, Paul J.;
Merren, Joy;
Stone, Edwin M.;
Sheffield, Val C.

Publication type:

Article

Predominance of Null Mutations in Ataxia-Telangiectasia.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 4, p. 433, doi. 10.1093/hmg/5.4.433

By:

Gilad, Shlomit;
Khosravi, Rami;
Shkedy, Dganit;
Uziel, Tamar;
Ziv, Yael;
Savitsky, Kinneret;
Rotman, Galit;
Smith, Sara;
Chessa, Luciana;
Jorgensen, Timothy J.;
Harnik, Reli;
Frydman, Moshe;
Sanal, Ozden;
Portnoi, Sima;
Goldwicz, Zipora;
Jaspers, N. G. J.;
Gatti, Richard A.;
Lenoir, Gilbert;
Lavin, Martin F.;
Tatsumi, Kouichi

Publication type:

Article

A Stable, Nonsense Mutation Associated with a Case of Infantile Onset Polycystic Kidney Disease 1 (PKD1).

Published in:

Human Molecular Genetics, 1996, v. 5, n. 4, p. 539, doi. 10.1093/hmg/5.4.539

By:

Peral, Belén;
Ong, Albert C. M.;
San Millân, José L.;
Gamble, Vicki;
Rees, Lesley;
Harris, Peter C.

Publication type:

Article

Xist expression from an Xist YAC transgene carried on the mouse Y chromosome.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 4, p. 451, doi. 10.1093/hmg/5.4.451

By:

Matsuura, S.;
Episkopou, V.;
Hamvas, Renata;
Brown, S. D. M.

Publication type:

Article

Breakage in the SNRPN Locus in a Balanced 46,XY,t(15, 19) Prader-Willi Syndrome Patient.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 4, p. 517, doi. 10.1093/hmg/5.4.517

By:

Sun, Yongming;
Nicholls, Robert D.;
Butler, Merlin G.;
Saitoh, Shinji;
Hainline, Bryan E.;
Palmer, Catherine G.

Publication type:

Article

Transgenic Mice Carrying an Xist-Containing YAC.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 4, p. 441, doi. 10.1093/hmg/5.4.441

By:

Heard, Edith;
Kress, Chantal;
Mongelard, Fabien;
Courtier, Béatrice;
Rougeulle, Claire;
Ashworth, Alan;
Vourc'h, Claire;
Babinet, Charles;
Avner, Philip

Publication type:

Article

The Hereditary Pancreatitis Gene Maps to Long Arm of Chromosome 7.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 4, p. 549, doi. 10.1093/hmg/5.4.549

By:

Le Bodic, Louis;
Bignon, Jean-Denis;
Raguénès, Odile;
Mercier, Bernard;
Georgelin, Thierry;
Schnee, Mathieu;
Soulard, François;
Gagne, Katia;
Bonneville, Françoise;
Muller, Jean-Yves;
Bachner, Lucien;
Férec, Claude

Publication type:

Article

Missense FGFR3 Mutations Create Cysteine Residues in Thanatophoric Dwarfism Type I (TD1).

Published in:

Human Molecular Genetics, 1996, v. 5, n. 4, p. 509, doi. 10.1093/hmg/5.4.509

By:

Rousseau, F.;
El Ghouzzi, V.;
Delezoide, A. L.;
Legeai-Mallet, L.;
Le Merrer, M.;
Munnich, A.;
Bonaventure, J.

Publication type:

Article

Do Sequence Variants in the Major Non-Coding Region of the Mitochondrial Genome Influence Mitochondrial Mutations Associated with Disease?

Published in:

Human Molecular Genetics, 1996, v. 5, n. 4, p. 473, doi. 10.1093/hmg/5.4.473

By:

Marchington, David R.;
Poulton, Joanna;
Sellar, Anneke;
Holt, Ian J.

Publication type:

Article

Phenotypic Variation in Waardenburg Syndrome: Mutational Heterogeneity, Modifier Genes or Polygenic Background?

Published in:

Human Molecular Genetics, 1996, v. 5, n. 4, p. 497, doi. 10.1093/hmg/5.4.497

By:

Pandya, Arti;
Xia, Xia-Juan;
Landa, Barbara L.;
Arnos, Kathleen S.;
Israel, Jamie;
Lloyd, Joyce;
James, Anthony L.;
Diehl, Scott R.;
Blanton, Susan H.;
Nance, Walter E.

Publication type:

Article

Mapping of a Second Locus for Lamellar Ichthyosis to Chromosome 2q33–35.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 4, p. 555, doi. 10.1093/hmg/5.4.555

By:

Parmentier, Laurent;
Lakhdar, Hakima;
Blanchet-Bardon, Claudine;
Marchand, Sylvie;
Dubertret, Louis;
Weissenbach, Jean

Publication type:

Article

The Gene Responsible for Clouston Hidrotic Ectodermal Dysplasia Maps to the Pericentromeric Region of Chromosome 13q.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 4, p. 543, doi. 10.1093/hmg/5.4.543

By:

Kibar, Zoha;
Der Kaloustian, Vazken M.;
Brais, Bernard;
Hani, Valerie;
Fraser, F. Clarke;
Rouleau, Guy A.

Publication type:

Article

Site and Sequence Specific DNA Methylation in the Neurofibromatosis (NF1) Gene Includes C5839T: The Site of the Recurrent Substitution Mutation in Exon 31.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 4, p. 503, doi. 10.1093/hmg/5.4.503

By:

Andrews, Joseph D.;
Mancini, Debora N.;
Singh, Shiva M.;
Rodenhiser, David I.

Publication type:

Article

Characterization of a Cluster of Sulfatase Genes on Xp22.3 Suggests Gene Duplications in an Ancestral Pseudoautosomal Region.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 4, p. 423, doi. 10.1093/hmg/5.4.423

By:

Meroni, Germana;
Franco, Brunella;
Archidiacono, Nicoletta;
Messali, Silvia;
Andolfi, Grazia;
Rocchi, Mariano;
Ballabio, Andrea

Publication type:

Article