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

Results: 21

Confirmation of Three Susceptibility Genes to Insulin-Dependent Diabetes Mellitus: IDDM4, IDDM5 and IDDM8.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 5, p. 693, doi. 10.1093/hmg/5.5.693

By:

Luo, De-Fang;
Buzzetti, Raffaella;
Rotter, Jerome I.;
Maclaren, Noel K.;
Raffel, Leslie J.;
Nisticô, Lorenza;
Giovannini, Claudio;
Pozzilli, Paolo;
Thomson, Glenys;
She, Jin-Xiong

Publication type:

Article

Heterogeneity in Telomere Length of Human Chromosomes.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 5, p. 685, doi. 10.1093/hmg/5.5.685

By:

Lansdorp, Peter M.;
Verwoerd, Nico P.;
van de Rijke, Frans M.;
Dragowska, Visia;
Little, Marie-Térèse;
Dirks, Roeland W.;
Raap, Anton K.;
Tanke, Hans J.

Publication type:

Article

Crigler-Najjar Syndrome Type II is Inherited Both as a Dominant and as a Recessive Trait.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 5, p. 645, doi. 10.1093/hmg/5.5.645

By:

Koiwai, Osamu;
Aono, Sachiko;
Adachi, Yukihiko;
Kamisako, Toshinori;
Yasui, Yoshihiro;
Nishizawa, Miwako;
Sato, Hiroshi

Publication type:

Article

cDNA Cloning of a Human Homologue of the Caenorhabditis Elegans Cell Fate-Determining Gene Mab-21: Expression, Chromosomal Localization and Analysis of a Highly Polymorphic (CAG)n Trinucleotide Repeat.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 5, p. 607, doi. 10.1093/hmg/5.5.607

By:

Margolis, Russell L.;
Colin Stine, O.;
McInnis, Melvin G.;
Ranen, Neal G.;
Rubinsztein, David C.;
Leggo, Jayne;
Jones Brando, Lorraine V.;
Kidwai, Arif S.;
Loev, Scott J.;
Breschel, Theresa S.;
Callahan, Colleen;
Simpson, Sylvia G.;
Raymond DePaulo, J.;
McMahon, Francis J.;
Jain, Sanjeev;
Paykel, Eugene S.;
Walsh, Cathy;
DeLisi, Lynn E.;
Crow, Timothy J.;
Fuller Torrey, E.

Publication type:

Article

Mutation Hotspots in the PHKA2 G Gene in X-Linked Liver Glycogenosis Due to Phosphorylase Kinase Deficienc with Atypical Activity in Blood Cells (XLG2).

Published in:

Human Molecular Genetics, 1996, v. 5, n. 5, p. 653, doi. 10.1093/hmg/5.5.653

By:

Burwinkel, Barbara;
Shin, Yoon S.;
Bakker, Henk D.;
Deutsch, Johann;
José Lozano, María;
Maire, Irène;
Kilimann, Manfred W.

Publication type:

Article

Characterization of a Second Human Clathrin Heavy Chain Polypeptide Gene (CLH-22) from Chromosome 22q11.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 5, p. 625, doi. 10.1093/hmg/5.5.625

By:

Kedra, Darek;
Peyrard, Myriam;
Fransson, Ingegerd;
Collins, John E.;
Dunham, Ian;
Roe, Bruce A.;
Dumanski, Jan P.

Publication type:

Article

A Member of the MAP Kinase Phosphatase Gene Family in Mouse Containing a Complex Trinucleotide Repeat in the Coding Region.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 5, p. 675, doi. 10.1093/hmg/5.5.675

By:

Theodosiou, A. M.;
Rodrigues, N. R.;
Nesbit, M. A.;
Ambrose, H. J.;
Paterson, H.;
McLellan-Arnold, E.;
Boyd, Y.;
Leversha, M. A.;
Owen, N.;
Blake, D. J.;
Ashworth, A.;
Davies, K. E.

Publication type:

Article

X-Linked Liver Glycogenosis Type II (XLg II) Is Caused by Mutations in PHKA2, the Gene Encoding the Liver α Subunit of Phosphorylase Kinase.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 5, p. 649, doi. 10.1093/hmg/5.5.649

By:

Hendrickx, Jan;
Dams, Erna;
Coucke, Paul;
Lee, Philip;
Fernandes, John;
Willems, Patrick J.

Publication type:

Article

Isolation of a New Clathrin Heavy Chain Gene with Muscle-Specific Expression from the Region Commonly Deleted in Velo-cardio-facial Syndrome.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 5, p. 617, doi. 10.1093/hmg/5.5.617

By:

Sirotkin, Howard;
Morrow, Bernice;
DasGupta, Ruchira;
Goldberg, Rosalie;
Patanjali, Sankhavaram R.;
Shi, Guangping;
Cannizzaro, Linda;
Shprintzen, Robert;
Weissman, Sherman M.;
Kucherlapati, Raju

Publication type:

Article

Mutations in the Ca2+-Sensing Receptor Gene Cause Autosomal Dominant and Sporadic Hypoparathyroidism.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 5, p. 601, doi. 10.1093/hmg/5.5.601

By:

Baron, Jeffrey;
Winer, Karen K.;
Yanovski, Jack A.;
Cunningham, Adrienne W.;
Laue, Louisa;
Zimmerman, Donald;
Cutler, Gordon B.

Publication type:

Article

Isolation of a Novel Gene from the DiGeorge Syndrome Critical Region with Homology to Drosophila gdl and to Human LAMC1 Genes.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 5, p. 633, doi. 10.1093/hmg/5.5.633

By:

Demczuk, Suzanne;
Thomas, Gilles;
Aurias, Alain

Publication type:

Article

Identification of the First Gene (FRG1) from the FSHD Region on Human Chromosome 4q35.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 5, p. 581, doi. 10.1093/hmg/5.5.581

By:

van Deutekom, Judith C. T.;
Lemmers, Richard J. L. F.;
Grewal, Prabhjit K.;
van Geel, Michel;
Romberg, Silke;
Dauwerse, Hans G.;
Wright, Tracy J.;
Padberg, George W.;
Hofker, Marten H.;
Hewitt, Jane E.;
Frants, Rune R.

Publication type:

Article

Gene Transfer into the Mouse Retina Mediated by an Adeno-Associated Viral Vector.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 5, p. 591, doi. 10.1093/hmg/5.5.591

By:

Ali, Robin R.;
Reichel, Martin B.;
Thrasher, Adrian J.;
Levinsky, Roland J.;
Kinnon, Christine;
Kanuga, Naheed;
Hunt, David M.;
Bhattacharya, Shomi S.

Publication type:

Article

Linkage of Polymorphic Congenital Cataract to the γ-Crystallin Gene Locus on Human Chromosome 2q33–35.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 5, p. 699, doi. 10.1093/hmg/5.5.699

By:

Rogaev, Evgeny I.;
Rogaeva, Ekaterina A.;
Korovaitseva, Galina I.;
Farrer, Lindsay A.;
Petrin, Alexander N.;
Keryanov, Sergey A.;
Turaeva, Shirine;
Chumakov, Ilya;
George-Hyslop, Peter St.;
Ginter, Eugeny K.

Publication type:

Article

Genetic Mapping of the Human Homologue (T) of Mouse T(Brachyury) and a Search for Allele Association between Human T and Spina Bifida.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 5, p. 669, doi. 10.1093/hmg/5.5.669

By:

Morrison, Katie;
Papapetrou, Charalambos;
Attwood, John;
Hol, Frans;
Lynch, Sally A.;
Sampath, Anu;
Hamel, Ben;
Burn, John;
Sowden, Jane;
Stott, David;
Mariman, Edwin;
Edwards, Yvonne H.

Publication type:

Article

Construction of a Mouse Model of Charcot-Marie-Tooth Disease Type 1A by Pronuclear Injection of Human YAC DNA.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 5, p. 563, doi. 10.1093/hmg/5.5.563

By:

Huxley, C.;
Passage, E.;
Manson, A.;
Putzu, G.;
Figarella-Branger, D.;
Pellissier, J. F.;
Fontés, M.

Publication type:

Article

Isolation of Genes Amplified in Human Cancers by Microdissection Mediated cDNA Capture.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 5, p. 595, doi. 10.1093/hmg/5.5.595

By:

Gracia, Edgardo;
Fischer, Ulrike;
ElKahloun, Abdel;
Trent, Jeffrey M.;
Meese, Eckart;
Meltzer, Paul S.

Publication type:

Article

Localisation of a Gene for Central Areolar Choroidal Dystrophy to Chromosome 17p.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 5, p. 705, doi. 10.1093/hmg/5.5.705

By:

Lotery, Andrew J.;
Ennis, Kevin T.;
Silvestri, Giuliana;
Nicholl, Suzanne;
McGibbon, David;
Collins, Alan D.;
Hughes, Anne E.

Publication type:

Article

Characterization of the Split Hand/Split Foot Malformation Locus SHFM1 at 7Q21.3–Q22.1 and Analysis of a Candidate Gene for Its Expression during Limb Development.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 5, p. 571, doi. 10.1093/hmg/5.5.571

By:

Crackower, Michael A.;
Scherer, Stephen W.;
Rommens, Johanna M.;
Hui, Chi-Chung;
Poorkaj, Parvoneh;
Soder, Sylvia;
Cobben, Jan Maarten;
Hudgins, Louanne;
Evans, James P.;
Tsui, Lap-Chee

Publication type:

Article

Long-Range Sequence Analysis in Xq28: Thirteen Known and Six Candidate Genes in 219.4 kb of High GC DNA Between the RCP/GCP and G6PD Loci.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 5, p. 659, doi. 10.1093/hmg/5.5.659

By:

Chen, Ellson Y.;
Zollo, Massimo;
Mazzarella, Richard;
Ciccodicola, Alfredo;
Chen, Chun-nan;
Zuo, Lin;
Heiner, Cheryl;
Repetto, Monica;
Burough, Frank;
Schlessinger, David;
D'Urso, Michele

Publication type:

Article

Expression of the Von Hippel—Lindau Disease Tumour Suppressor Gene during Human Embryogenesis.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 5, p. 639, doi. 10.1093/hmg/5.5.639

By:

Richards, Frances M.;
Schofield, Paul N.;
Fleming, Stewart;
Maher, Eamonn R.

Publication type:

Article