Works matching IS 09646906 AND DT 1996 AND VI 5 AND IP 2

Results: 14

Somatic Mutations Are Frequent and Increase with Age in Human Kidney Epithelial Cells.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 2, p. 215, doi. 10.1093/hmg/5.2.215

By:

Martin, George M.;
Ogburn, Charles E.;
Colgin, Lorel M.;
Gown, Allen M.;
Edland, Steven D.;
Monnat, Raymond J.

Publication type:

Article

Analysis of CAG Repeat of the Machado-Joseph Gene in Human, Chimpanzee and Monkey Populations: A Variant Nucleotide is Associated with the Number of CAG Repeats.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 2, p. 207, doi. 10.1093/hmg/5.2.207

By:

Limprasert, Pornprot;
Nouri, Nassim;
Heyman, Rock A.;
Nopparatana, Chamnong;
Kamonsilp, Mahatana;
Deininger, Prescott L.;
Keats, Bronya J. B.

Publication type:

Article

Localisation of Pseudohypoaldosteronism Genes to Chromosome 16p12.2–13.11 and 12p13.1-Pter by Homozygosity Mapping.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 2, p. 293, doi. 10.1093/hmg/5.2.293

By:

Strautnieks, Sandra S.;
Thompson, Richard J.;
Hanukoglu, Aaron;
Dillon, Michael J.;
Hanukoglu, Israel;
Kuhnle, Ursula;
Seckl, Jonathan;
Gardiner, R. Mark;
Chung, Eddie

Publication type:

Article

Elevation in the Ratio of Cu/Zn-Superoxide Dismutase to Glutathione Peroxidase Activity Induces Features of Cellular Senescence and This Effect Is Mediated by Hydrogen Peroxide.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 2, p. 283, doi. 10.1093/hmg/5.2.283

By:

de Haan, Judy B.;
Cristiano, Francesca;
Iannello, Rocco;
Bladier, Cecile;
Kelner, Michael J.;
Kola, Ismail

Publication type:

Article

Mutational Hotspots in the LAMB3 Gene in the Lethal (Herlitz) Type of Junctional Epidermolysis Bullosa.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 2, p. 231, doi. 10.1093/hmg/5.2.231

By:

Kivirikko, Sirpa;
McGrath, John A.;
Pulkkinen, Leena;
Uitto, Jouni;
Christiano, Angela M.

Publication type:

Article

A Candidate Gene for Mild Mental Handicap at the Fraxe Fragile Site.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 2, p. 275, doi. 10.1093/hmg/5.2.275

By:

Chakrabarti, Lisa;
Knight, Samantha J. L.;
Flannery, Angela V.;
Davies, Kay E.

Publication type:

Article

Absence of Disease Phenotype and Intergenerational Stability of the Cag Repeat in Transgenic Mice Expressing the Human Huntington Disease Transcript.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 2, p. 177, doi. 10.1093/hmg/5.2.177

By:

Goldberg, Y. P.;
Kalchman, M. A.;
Metzler, M.;
Nasir, J.;
Zeisler, J.;
Graham, R.;
Koide, H. B.;
O'Kusky, J.;
Sharp, A. H.;
Ross, C. A.;
Jirik, F.;
Hayden, M. R.

Publication type:

Article

FRA3B Extends Over a Broad Region and Contains a Spontaneous HPV16 Integration Site: Direct Evidence for the Coincidence of Viral Integration Sites and Fragile Sites.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 2, p. 187, doi. 10.1093/hmg/5.2.187

By:

Wilke, Charles M.;
Hall, Bryan K.;
Hoge, Ann;
Paradee, William;
Smith, David I.;
Glover, Thomas W.

Publication type:

Article

Molecular Characterization of Breakpoints in Patients with Holoprosencephaly and Definition of the HPE2 Critical Region 2p21.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 2, p. 223, doi. 10.1093/hmg/5.2.223

By:

Schell, Ute;
Wienberg, Johannes;
Köhler, Angelika;
Bray-Ward, Patricia;
Ward, Deeann E.;
Wilson, William G.;
Allen, William P.;
Lebel, Robert R.;
Sawyer, Jeffrey R.;
Campbell, Paul L.;
Aughton, David J.;
Punnett, Hope H.;
Lammer, Edward J.;
Kao, Fa-Ten;
Ward, David C.;
Muenke, Maximilian

Publication type:

Article

Relationship of Genotype to Phenotype in Fibroblast-derived Transmitochondrial Cell Lines Carrying the 3243 Mutation Associated with the Melas Encephalomyopathy: Shift towards Mutant Genotype and Role of mtDNA Copy Number.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 2, p. 197, doi. 10.1093/hmg/5.2.197

By:

Bentlage, Herman A. C. M.;
Attardi, Giuseppe

Publication type:

Article

Novel Mutations Detected in the TSC2 Hene From Both Sporadic and Familial TSC Patients.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 2, p. 249, doi. 10.1093/hmg/5.2.249

By:

Wilson, Peter J.;
Ramesh, Vijaya;
Kristiansen, Arthur;
Bove, Catherine;
Jozwiak, Serguisy;
Kwiatkowski, David J.;
Short, M. Priscilla;
Haines, Jonathan L.

Publication type:

Article

Functional Analysis of Six Androgen Receptor Mutations Identified in Patients with Partial Androgen Insensitivity Syndrome.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 2, p. 265, doi. 10.1093/hmg/5.2.265

By:

Bevan, Charlotte L.;
Brown, Betty B.;
Davies, Helen R.;
Evans, Bronwen A. J.;
Hughes, Ieuan A.;
Patterson, Mark N.

Publication type:

Article

Localization of a Tumor Suppressor Gene in 11p15.5 Using the G401 Wilms' Tumor Assay.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 2, p. 239, doi. 10.1093/hmg/5.2.239

By:

Reid, Laura Hink;
West, Ande;
Gioeli, Daniel G.;
Phillips, Karen K.;
Kelleher, Kevin F.;
Araujo, Diana;
Stanbridge, Eric J.;
Dowdy, Steven F.;
Gerhard, Daniela S.;
Weissman, Bernard E.

Publication type:

Article

Molecular Analysis of the SMN and NAIP Genes in Spanish Spinal Muscular Atrophy (SMA) Families and Correlation between Number of Copies of cBCD541 and SMA Phenotype.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 2, p. 257, doi. 10.1093/hmg/5.2.257

By:

Velasco, Eladio;
Valero, Carmen;
Valero, Ana;
Moreno, Felipe;
Hernández-Chico, Concepción

Publication type:

Article