Works matching IS 09646906 AND DT 1997 AND VI 6 AND IP 13

Results: 18

Huntingtin-associated Protein 1 (HAP1) Interacts with the p150Glued Bubunit of Dynactin.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 13, p. 2205, doi. 10.1093/hmg/6.13.2205

By:

Engelender, Simone;
Sharp, Alan H.;
Colomer, Veronica;
Tokito, Mariko K.;
Lanahan, Anthony;
Worley, Paul;
Holzbaur, Erika L.F.;
Ross, Christopher A.

Publication type:

Article

Paternal Expression of WT1 in Human Fibroblasts and Lymphocytes.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 13, p. 2243, doi. 10.1093/hmg/6.13.2243

By:

Mitsuya, Kohzoh;
Sui, Hajime;
Meguro, Makiko;
Kugoh, Hiroyuki;
Jinno, Yoshihiro;
Niikawa, Norio;
Oshimura, Mitsuo

Publication type:

Article

Dp260 Disrupted Mice Revealed Prolonged Implicit Time of the b-Wave in ERG and Loss of Accumulation of β-Dystroglycan in the Outer Plexiform Layer of the Retina.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 13, p. 2195, doi. 10.1093/hmg/6.13.2195

By:

Kameya, Shuhei;
Araki, Eiichi;
Katsuki, Motoya;
Mizota, Atsushi;
Adachi, Emiko;
Nakahara, Kiyoshi;
Nonaka, Ikuya;
Sakuragi, Shozo;
Takeda, Shin'ichi;
Nabeshima, Yo-ichi

Publication type:

Article

A Novel Gene that Encodes a Protein with a Putative src Homology 3 Domain is a Candidate Gene for Familial Juvenile Nephronophthisis.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 13, p. 2317, doi. 10.1093/hmg/6.13.2317

By:

Saunier, Sophie;
Calado, Joaquim;
Heilig, Roland;
Silbermann, Flora;
Benessy, France;
Morin, Gilles;
Konrad, Martin;
Broyer, Michel;
Gubler, Marie-Claire;
Weissenbach, Jean;
Antignac, Corinne

Publication type:

Article

Low Proportion of BRCA1 and BRCA2 Mutations in Finnish Breast Cancer Families: Evidence for Additional Susceptibility Genes.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 13, p. 2309, doi. 10.1093/hmg/6.13.2309

By:

Vehmanen, Paula;
Friedman, Lori S.;
Eerola, Hannaleena;
McClure, Melody;
Ward, Brian;
Sarantaus, Laura;
Kainu, Tommi;
Syrjäkoski, Kirsi;
Pyrhönen, Seppo;
Kallioniemi, Olli-P.;
Muhonen, Timo;
Luce, Michael;
Frank, Thomas S.;
Nevanlinna, Heli

Publication type:

Article

Efficient Conditional Mutation of the Vertebrate CENP-C Gene.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 13, p. 2301, doi. 10.1093/hmg/6.13.2301

By:

Fukagawa, Tatsuo;
Brown, William R.A.

Publication type:

Article

Sequences from Higher Primates Orthologous to the Human Xp/Yp Telomere Junction Region Reveal Gross Rearrangements and High Levels of Divergence.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 13, p. 2291, doi. 10.1093/hmg/6.13.2291

By:

Baird, D. M.;
Royle, N. J.

Publication type:

Article

Identification of MEN1 Gene Mutations in Sporadic Carcinoid Tumors of the Lung.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 13, p. 2285, doi. 10.1093/hmg/6.13.2285

By:

Debelenko, Larisa V.;
Brambilla, Elisabeth;
Agarwal, Sunita K.;
Swalwell, Jennifer I.;
Kester, Mary B.;
Lubensky, Irina A.;
Zhuang, Zhengping;
Guru, Siradanahalli C.;
Manickam, Pachiappan;
Olufemi, Shodimu-Emmanuel;
Chandrasekharappa, Settara C.;
Crabtree, Judy S.;
Kim, Young S.;
Heppner, Christina;
Burns, A. Lee;
Spiegel, Allen M.;
Marx, Stephen J.;
Liotta, Lance A.;
Collins, Francis S.;
Travis, William D.

Publication type:

Article

Genetic Linkage of the Tricho-Dento-Osseous Syndrome to Chromosome 17q21.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 13, p. 2279, doi. 10.1093/hmg/6.13.2279

By:

Hart, Thomas C.;
Bowden, Donald W.;
Bolyard, Joey;
Kula, Katherine;
Hall, Kathie;
Wright, John T.

Publication type:

Article

An Adenosine Deaminase (ADA) Allele Contains Two Newly Identified Deleterious Mutations (Y97C and L106V) That Interact to Abolish Enzyme Activity.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 13, p. 2271, doi. 10.1093/hmg/6.13.2271

By:

Jiang, C.-K.;
Hong, R.;
Horowitz, S. D.;
Kong, X.-P.;
Hirschhorn, R.

Publication type:

Article

Female Germline Mosaicism in Tuberous Sclerosis Confirmed by Molecular Genetic Analysis.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 13, p. 2265, doi. 10.1093/hmg/6.13.2265

By:

Yates, John R.W.;
van Bakel, Inge;
Sepp, Tiina;
Payne, Stewart J.;
Webb, David W.;
Nevin, Norman C.;
Green, Andrew J.

Publication type:

Article

Heart-Specific Localization of Emerin: New Insights Into Emery-Dreifuss Muscular Dystrophy.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 13, p. 2257, doi. 10.1093/hmg/6.13.2257

By:

Cartegni, Luca;
di Barletta, Marina Raffaele;
Barresi, Rita;
Squarzoni, Stefano;
Sabatelli, Patrizia;
Maraldi, Nadir;
Mora, Marina;
Di Blasi, Claudia;
Cornelio, Ferdinando;
Merlini, Luciano;
Villa, Antonello;
Cobianchi, Fabio;
Toniolo, Daniela

Publication type:

Article

Clustering of Mutations Responsible for Branchio-Oto-Renal (BOR) Syndrome in the Eyes Absent Homologous Region (eyaHR) of EYA1.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 13, p. 2247, doi. 10.1093/hmg/6.13.2247

By:

Abdelhak, Sonia;
Kalatzis, Vasiliki;
Heilig, Roland;
Compain, Sylvie;
Samson, Delphine;
Vincent, Christophe;
Levi-Acobas, Fabienne;
Cruaud, Corinne;
Le Merrer, Martine;
Mathieu, Michèle;
König, Rainer;
Vigneron, Jacqueline;
Weissenbach, Jean;
Petit, Christine;
Weil, Dominique

Publication type:

Article

Complete Restoration of a Wild-Type mtDNA Genotype in Regenerating Muscle Fibres in a Patient with a tRNA Point Mutation and Mitochondrial Encephalomyopathy.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 13, p. 2239, doi. 10.1093/hmg/6.13.2239

By:

Shoubridge, Eric A.;
Johns, Timothy;
Karpati, George

Publication type:

Article

Serotonin Transporter (5-HTT) Gene Variants Associated with Autism?

Published in:

Human Molecular Genetics, 1997, v. 6, n. 13, p. 2233

By:

Kluck, Sabine M.;
Poustka, Fritz;
Benner, Axel;
Lesch, Klaus-Peter;
Poustka, Annemarie

Publication type:

Article

Activation of the Human Transglutaminase 1 Promoter in Transgenic Mice: Terminal Differentiation-Specific Expression of the TGM1-LacZ Transgene in Keratinized Stratified Squamous Epithelia.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 13, p. 2223, doi. 10.1093/hmg/6.13.2223

By:

Yamada, Keiko;
Matsuki, Masato;
Morishima, Yohichi;
Ueda, Eiichiro;
Tabata, Kohich;
Yasuno, Hirokazu;
Suzuki, Misao;
Yamanishi, Kiyofumi

Publication type:

Article

Functional Modeling of Vitamin Responsiveness in Yeast: A Common Pyridoxine-Responsive Cystathionine β-Synthase Mutation in Homocystinuria.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 13, p. 2213, doi. 10.1093/hmg/6.13.2213

By:

Kim, Cecilia E.;
Gallagher, Paula M.;
Guttormsen, Anne B.;
Refsum, Helga;
Ueland, Per M.;
Ose, Leiv;
Følling, Ivar;
Whitehead, Alexander S.;
Tsai, Michael Y.;
Kruger, Warren D.

Publication type:

Article

Towards an Ovine Model of Cystic Fibrosis.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 13, p. 2191, doi. 10.1093/hmg/6.13.2191

By:

Harris, Ann

Publication type:

Article