Works matching IS 09646906 AND DT 1999 AND VI 8 AND IP 3

Results: 18

Single sperm analysis of the CAG repeats in the gene for dentatorubral-pallidoluysian atrophy (DRPLA): the instability of the CAG repeats in the DRPLA gene is prominent among the CAG repeat diseases.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 3, p. 453, doi. 10.1093/hmg/8.3.453

By:

Takiyama, Yoshihisa;
Sakoe, Kumi;
Amaike, Miho;
Soutome, Michiyo;
Ogawa, Tomoko;
Nakano, Imaharu;
Nishizawa, Masatoyo

Publication type:

Article

Allele-specific late replication and fragility of the most active common fragile site, FRA3B.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 3, p. 431, doi. 10.1093/hmg/8.3.431

By:

Wang, Liang;
Darling, John;
Zhang, Jin-San;
Huang, Haojie;
Liu, Wanguo;
Smith, David I.

Publication type:

Article

Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 3, p. 413, doi. 10.1093/hmg/8.3.413

By:

Wagner, Teresa M. U.;
Hirtenlehner, Kora;
Shen, Peidong;
Moeslinger, Regina;
Muhr, Daniela;
Fleischmann, Elisabeth;
Concin, Hans;
Doeller, Walter;
Haid, Anton;
Lang, Alois Hermann;
Mayer, Peter;
Petru, Edgar;
Ropp, Erich;
Langbauer, Gudrun;
Kubista, Ernst;
Scheiner, Otto;
Underhill, Peter;
Mountain, Joanna;
Stierer, Michael;
Zielinski, Cristoph

Publication type:

Article

Human cochlear expressed sequence tags provide insight into cochlear gene expression and identify candidate genes for deafness.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 3, p. 439, doi. 10.1093/hmg/8.3.439

By:

Skvorak, Anne B.;
Weng, Zhiping;
Yee, Andrew J.;
Robertson, Nahid G.;
Morton, Cynthia C.

Publication type:

Article

Truncated CBP protein leads to classical Rubinstein-Taybi syndrome phenotypes in mice: implications for a dominant-negative mechanism.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 3, p. 387, doi. 10.1093/hmg/8.3.387

By:

Oike, Yuichi;
Hata, Akira;
Mamiya, Takayoshi;
Kaname, Tadashi;
Noda, Yukihiro;
Suzuki, Misao;
Yasue, Hirofumi;
Nabeshima, Toshitaka;
Araki, Kimi;
Yamamura, Ken-ichi

Publication type:

Article

The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 3, p. 425, doi. 10.1093/hmg/8.3.425

By:

Wong, Alice;
Yang, Joy;
Cavadini, Patrizia;
Gellera, Cinzia;
Lonnerdal, Bo;
Taroni, Franco;
Cortopassi, Gino

Publication type:

Article

Methylation profiling of CpG islands in human breast cancer cells.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 3, p. 459, doi. 10.1093/hmg/8.3.459

By:

Huang, Tim Hui-Ming;
Perry, Martin R.;
Laux, Douglas E.

Publication type:

Article

Circular dystrophin RNAs consisting of exons that were skipped by alternative splicing.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 3, p. 493, doi. 10.1093/hmg/8.3.493

By:

Surono, Agus;
Takeshima, Yasuhiro;
Wibawa, Tri;
Ikezawa, Makoto;
Nonaka, Ikuya;
Matsuo, Masafumi

Publication type:

Article

Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 3, p. 509, doi. 10.1093/hmg/8.3.509

By:

Koptides, Michael;
Hadjimichael, Christos;
Koupepidou, Panayiota;
Pierides, Alkis;
Constantinou Deltas, C.

Publication type:

Article

An α-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 3, p. 409, doi. 10.1093/hmg/8.3.409

By:

Mustapha, Mirna;
Weil, Dominique;
Chardenoux, Sébastien;
Elias, Sanaa;
El-Zir, Elie;
Beckmann, Jacques S.;
Loiselet, Jacques;
Petit, Christine

Publication type:

Article

Distinct mutation patterns of breast cancer-associated alleles of the HRAS1 minisatellite locus.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 3, p. 515, doi. 10.1093/hmg/8.3.515

By:

Ding, Shaofeng;
Larson, Garry P.;
Foldenauer, Kimberly;
Zhang, Guoxiang;
Krontiris, Theodore G.

Publication type:

Article

Intranuclear inclusions and neuritic aggregates in transgenic mice expressing a mutant N-terminal fragment of huntingtin.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 3, p. 397, doi. 10.1093/hmg/8.3.397

By:

Schilling, Gabriele;
Becher, Mark W.;
Sharp, Alan H.;
Jinnah, Hyder A.;
Duan, Kui;
Kotzuk, Joyce A.;
Slunt, Hilda H.;
Ratovitski, Tamara;
Cooper, Jillian K.;
Jenkins, Nancy A.;
Copeland, Neal G.;
Price, Donald L.;
Ross, Christopher A.;
Borchelt, David R.

Publication type:

Article

The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 3, p. 533

By:

Ji, Yonggang;
Walkowicz, Mitchell J.;
Buiting, Karin;
Johnson, Dabney K.;
Tarvin, Rocio E.;
Rinchik, Eugene M.;
Horsthemke, Bernhard;
Stubbs, Lisa;
Nicholls, Robert D.

Publication type:

Article

Genetic mapping of the copper toxicosis locus in Bedlington terriers to dog chromosome 10, in a region syntenic to human chromosome region 2p13-p16.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 3, p. 501, doi. 10.1093/hmg/8.3.501

By:

van de Sluis, Bart J. A.;
Breen, Matthew;
Nanji, Manoj;
van Wolferen, Monique;
de Jong, Pieter;
Binns, Matthew M.;
Pearson, Peter L.;
Kuipers, Jeroen;
Rothuizen, Jan;
Cox, Diane W.;
Wijmenga, Cisca;
van Oost, Bernard A.

Publication type:

Article

Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 3, p. 481, doi. 10.1093/hmg/8.3.481

By:

Winchester, Catherine L.;
Ferrier, Rod K.;
Sermoni, Adriana;
Clark, Brian J.;
Johnson, Keith J.

Publication type:

Article

The Batten disease gene product (CLN3p) is a Golgi integral membrane protein.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 3, p. 523, doi. 10.1093/hmg/8.3.523

By:

Kremmidiotis, Gabriel;
Lensink, Ingrid L.;
Bilton, Rebecca L.;
Woollatt, Erica;
Chataway, Timothy K.;
Sutherland, Grant R.;
Callen, David F.

Publication type:

Article

Dystonia associated with mutation of the neuronal sodium channel and identification of the modifier Scnm1 locus on mouse chromosome 3.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 3, p. 471, doi. 10.1093/hmg/8.3.471

By:

Sprunger, Leslie K.;
Escayg, Andrew;
Tallaksen-Greene, Sara;
Albin, Roger L.;
Meisler, Miriam H.

Publication type:

Article

Identification of a human homologue of the sea urchin receptor for egg jelly: a polycystic kidney disease-like protein.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 3, p. 543, doi. 10.1093/hmg/8.3.543

By:

Hughes, Jim;
Ward, Christopher J.;
Aspinwall, Richard;
Butler, Robin;
Harris, Peter C.

Publication type:

Article