Works matching IS 09646906 AND DT 1997 AND VI 6 AND IP 3

Results: 21

Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 3, p. 473, doi. 10.1093/hmg/6.3.473

By:

Guipponi, Michel;
Rivier, Frangois;
Vigevano, Federico;
Beck, Corinne;
Crespel, Arielle;
Echenne, Bernard;
Lucchini, Pierpaolo;
Sebastianelli, Rosella;
Baldy-Moulinier, Michel;
Malafosse, Alain

Publication type:

Article

Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?

Published in:

Human Molecular Genetics, 1997, v. 6, n. 3, p. 497, doi. 10.1093/hmg/6.3.497

By:

Talbot, Kevin;
Porting, Christopher P.;
Theodosiou, Aspasia M.;
Rodrigues, Nanda R.;
Surtees, Robert;
Mountford, Roger;
Davies, Kay E.

Publication type:

Article

Molecular and phenotypic variation in patients with severe Hunter syndrome.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 3, p. 479, doi. 10.1093/hmg/6.3.479

By:

Timms, Kirsten M.;
Bondeson, Marie-Louise;
Ansari-Lari, M. AM;
Lagerstedt, Kristina;
Muzny, Donna M.;
Dugan-Rocha, Shannon P.;
Nelson, David L.;
Pettersson, Ulf;
Gibbs, Richard A.

Publication type:

Article

The Mottled Mouse as a Model for Human Menkes Disease: Identification of Mutations in the Atp7a Gene.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 3, p. 425, doi. 10.1093/hmg/6.3.425

By:

Cecchi, Chiara;
Biasotto, Michel;
Tosi, Mario;
Avner, Philip

Publication type:

Article

Disruption of the Clathrin Heavy Chain-Like Gene (CLTCL) Associated with Features of DGS/VCFS: A Balanced (21;22)(p12;q11) Translocation.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 3, p. 357, doi. 10.1093/hmg/6.3.357

By:

Holmes, Susan E.;
Riazi, M. Ali;
Gong, Weilong;
McDermid, Heather E.;
Sellinger, Beatrice T.;
Hua, Axin;
Chen, Feng;
Wang, Zhili;
Zhang, Guozhang;
Roe, Bruce;
Gonzalez, Iris;
McDonald-McGinn, Donna M.;
Zackai, Elaine;
Emanuel, Beverly S.;
Budarf, Marcia L.

Publication type:

Article

CORRIGENDUM: The evolutionary distribution and structural organization of the homeobox-containing repeat D4Z4 indicates a functional role for the ancestral copy in the FSHD region.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 3, p. 502, doi. 10.1093/hmg/6.3.502

By:

Winokur, Sara T.;
Bengtsson, Ulla;
Vargas, Julie C.;
Wasmuth, John J.;
Altherr, Michael R.

Publication type:

Article

Mosaic methylation of the repeat unit of the human ribosomal RNA genes.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 3, p. 451, doi. 10.1093/hmg/6.3.451

By:

Brock, Graham J. R.;
Bird, Adrian

Publication type:

Article

HIP-I: A huntingtin interacting protein isolated by the yeast two-hybrid system.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 3, p. 487, doi. 10.1093/hmg/6.3.487

By:

Wanker, Erich E.;
Rovira, Carlos;
Scherzinger, Eberhard;
Hasenbank, Renate;
Walter, Stephanie;
Tait, Danilo;
Colicelli, John;
Lehrach, Hans

Publication type:

Article

Association of the Steroid Synthesis Gene Cyp11a with Polycystic Ovary Syndrome and Hyperandrogenism.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 3, p. 397, doi. 10.1093/hmg/6.3.397

By:

Gharani, Neda;
Waterworth, Dawn M.;
Batty, Sari;
White, Davinia;
Gilling-Smith, Carole;
Conway, Gerard S.;
McCarthy, Mark;
Franks, Stephen;
Williamson, Robert

Publication type:

Article

Pituitary homeobox 2, a novel member of the b/co/d-related family of homeobox genes, is a potential regulator of anterior structure formation.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 3, p. 457, doi. 10.1093/hmg/6.3.457

By:

Gage, Philip J.;
Camper, Sally A.

Publication type:

Article

A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 3, p. 465, doi. 10.1093/hmg/6.3.465

By:

Yu-Ker Wang;
Samos, Cindy Harryman;
Peoples, Risa;
Pérez-Jurado, Luis A.;
Nusse, Roel;
Francke, Uta

Publication type:

Article

High Throughput Parallel Analysis of Hundreds of Patient Samples for More Than 100 Mutations in Multiple Disease Genes.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 3, p. 337, doi. 10.1093/hmg/6.3.337

By:

Shuber, Anthony P.;
Michalowsky, Lesley A.;
Scott Nass, G.;
Skoletsky, Joel;
Hire, Lisa M.;
Kotsopoulos, Steve K.;
Phipps, Michael F.;
Barberio, Dana M.;
Klinger, Katherine W.

Publication type:

Article

Perinatal Lethality and Multiple Craniofacial Malformations in MSX2 Transgenic Mice.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 3, p. 369, doi. 10.1093/hmg/6.3.369

By:

Winograd, Jonathan;
Reilly, Michael P.;
Roe, Rick;
Lutz, Jeremy;
Laughner, Erik;
Xu, Xin;
Hu, Lin;
Asakura, Toshio;
vander Kolk, Craig;
Strandberg, John D.;
Semenza, Gregg L.

Publication type:

Article

Survey of Maximum CTG/CAG Repeat Lengths in Humans and Non-Human Primates: Total Genome Scan in Populations Using the Repeat Expansion Detection Method.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 3, p. 403, doi. 10.1093/hmg/6.3.403

By:

Sirugo, Giorgio;
Deinard, Amos S.;
Kidd, Judith R.;
Kidd, Kenneth K.

Publication type:

Article

Functional Analysis of Paired Box Missense Mutations in The PAX6 Gene.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 3, p. 381, doi. 10.1093/hmg/6.3.381

By:

Kejun Tang, Hank;
Chao, Lian-Yu;
Saunders, Grady F.

Publication type:

Article

Immunocytochemical Localization of the Menkes Copper Transport Protein (ATP7A) to the Trans-Golgi Network.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 3, p. 409, doi. 10.1093/hmg/6.3.409

By:

Dierick, Herman A.;
Adam, Ayla N.;
Escara-Wilke, June F.;
Glover, Thomas W.

Publication type:

Article

Mutation Analysis Provides Additional Proof That Mottled is the Mouse Homologue of Menkes' Disease.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 3, p. 417, doi. 10.1093/hmg/6.3.417

By:

Reed, Vivienne;
Boyd, Yvonne

Publication type:

Article

FMR2 Expression in Families with Fraxe Mental Retardation.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 3, p. 435, doi. 10.1093/hmg/6.3.435

By:

Gécz, Jozef;
Oostra, Ben A.;
Hockey, Athel;
Carbonell, Pablo;
Turner, Gillian;
Haan, Eric A.;
Sutherland, Grant R.;
Mulley, John C.

Publication type:

Article

Imprinted Segments in the Human Genome: Different Dna Methylation Patterns in the Prader-Willi/Angelman Syndrome Region As Determined by the Genomic Sequencing Method.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 3, p. 387, doi. 10.1093/hmg/6.3.387

By:

Zeschnigk, Michael;
Schmitz, Birgit;
Dittrich, Bärbel;
Buiting, Karin;
Horsthemke, Bernhard;
Doerfler, Walter

Publication type:

Article

Destabilization of CAG Trinucleotide Repeat Tracts by Mismatch Repair Mutations in Yeast.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 3, p. 349, doi. 10.1093/hmg/6.3.349

By:

Schweitzer, Jill Kuglin;
Livingston, Dennis M.

Publication type:

Article

Molecular Phenotype of a Human Lymphoblastoid Cell-line Homoplasmic for the np 7445 Deafness-associated Mitochondrial Mutation.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 3, p. 443, doi. 10.1093/hmg/6.3.443

By:

Reid, Fiona M.;
Rovio, Anja;
Holt, Ian J.;
Jacobs, Howard T.

Publication type:

Article