Works matching IS 09646906 AND DT 1999 AND VI 8 AND IP 12

Results: 23

A cellular assay distinguishes normal and mutant TIGR/myocilin protein.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 12, p. 2221, doi. 10.1093/hmg/8.12.2221

By:

Zhou, Zhaohui;
Vollrath, Douglas

Publication type:

Article

The Caenorhabditis elegans orthologue of the human gene responsible for spinal muscular atrophy is a maternal product critical for germline maturation and embryonic viability.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 12, p. 2133, doi. 10.1093/hmg/8.12.2133

By:

Miguel-Aliaga, Irene;
Culetto, Emmanuel;
Walker, Denise S.;
Baylis, Howard A.;
Sattelle, David B.;
Davies, Kay E.

Publication type:

Article

Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 12, p. 2171, doi. 10.1093/hmg/8.12.2171

By:

Pece-Barbara, Nadia;
Cymerman, Urszula;
Vera, Sonia;
Marchuk, Douglas A.;
Letarte, Michelle

Publication type:

Article

Linkage analysis of myelin oligodendrocyte glycoprotein-induced experimental autoimmune encephalomyelitis in the rat identifies a locus controlling demyelination on chromosome 18.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 12, p. 2183, doi. 10.1093/hmg/8.12.2183

By:

Dahlman, Ingrid;
Wallstrom, Erik;
Weissert, Robert;
Storch, Maria;
Kornek, Barbara;
Jacobsson, Lena;
Linington, Christopher;
Luthman, Holger;
Lassmann, Hans;
Olsson, Tomas

Publication type:

Article

Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 12, p. 2145, doi. 10.1093/hmg/8.12.2145

By:

Bijvoet, Agnes G. A.;
Van Hirtum, Hans;
Kroos, Marian A.;
Van de Kamp, Esther H. M.;
Schoneveld, Onard;
Visser, Pim;
Brakenhoff, Just P. J.;
Weggeman, Miranda;
van Corven, Emile J.;
Van der Ploeg, Ans T.;
Reuser, Arnold J. J.

Publication type:

Article

Maturation of frataxin within mammalian and yeast mitochondria: one-step processing by matrix processing peptidase.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 12, p. 2255, doi. 10.1093/hmg/8.12.2255

By:

Gordon, Donna M.;
Shi, Qi;
Dancis, Andrew;
Pain, Debkumar

Publication type:

Article

A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 12, p. 2155, doi. 10.1093/hmg/8.12.2155

By:

Simmons, Andrew D.;
Musy, Maurice M.;
Lopes, Carla S.;
Hwang, Larn-Yuan;
Yang, Ya-Ping;
Lovett, Michael

Publication type:

Article

Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 12, p. 2247, doi. 10.1093/hmg/8.12.2247

By:

Koizumi, Akio;
Nozaki, Jun-ichi;
Ohura, Toshihiro;
Kayo, Tsuyoshi;
Wada, Yasuhiko;
Nezu, Jun-ichi;
Ohashi, Rikiya;
Tamai, Ikumi;
Shoji, Yutaka;
Takada, Goro;
Kibira, Satoshi;
Matsuishi, Toyojiro;
Tsuji, Akira

Publication type:

Article

Deletion of 150 kb in the minimal DiGeorge/velocardiofacial syndrome critical region in mouse.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 12, p. 2229, doi. 10.1093/hmg/8.12.2229

By:

Kimber, Wendy L.;
Hsieh, Patrick;
Hirotsune, Shinji;
Yuva-Paylor, Lisa;
Sutherland, Helen F.;
Chen, Amy;
Ruiz-Lozano, Pilar;
Hoogstraten-Miller, Shelley L.;
Chien, Kenneth R.;
Paylor, Richard;
Scambler, Peter J.;
Wynshaw-Boris, Anthony

Publication type:

Article

Association analysis using refined microsatellite markers localizes a susceptibility locus for psoriasis vulgaris within a 111 kb segment telomeric to the HLA-C gene.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 12, p. 2165, doi. 10.1093/hmg/8.12.2165

By:

Oka, Akira;
Tamiya, Gen;
Tomizawa, Maiko;
Ota, Masao;
Katsuyama, Yoshihiko;
Makino, Satoshi;
Shiina, Takashi;
Yoshitome, Mai;
Iizuka, Mariko;
Sasao, Yuki;
Iwasita, Kenichi;
Kawakubo, Yo;
Sugai, Junichi;
Ozawa, Akira;
Ohkido, Muneo;
Kimura, Minoru;
Bahram, Seiamak;
Inoko, Hidetoshi

Publication type:

Article

Fully expanded FMR1 CGG repeats exhibit a length- and differentiation-dependent instability in cell hybrids that is independent of DNA methylation.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 12, p. 2293, doi. 10.1093/hmg/8.12.2293

By:

Burman, Robert W.;
Popovich, Bradley W.;
Jacky, Peter B.;
Turker, Mitchell S.

Publication type:

Article

Crooked tail (Cd) models human folate-responsive neural tube defects.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 12, p. 2199, doi. 10.1093/hmg/8.12.2199

By:

Carter, Michelle;
Ulrich, Sasha;
Oofuji, Yasuhisa;
Williams, David A.;
Ross, M. Elizabeth

Publication type:

Article

Functional analysis of human FEN1 in Saccharomyces cerevisiae and its role in genome stability.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 12, p. 2263, doi. 10.1093/hmg/8.12.2263

By:

Greene, Amy L.;
Snipe, Joyce R.;
Gordenin, Dmitry A.;
Resnick, Michael A.

Publication type:

Article

Molecular phenotype of the np 7472 deafness-associated mitochondrial mutation in osteosarcoma cell cybrids.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 12, p. 2275, doi. 10.1093/hmg/8.12.2275

By:

Toompuu, Marina;
Tiranti, Valeria;
Zeviani, Massimo;
Jacobs, Howard T.

Publication type:

Article

Novel mutations and genotype-phenotype relationship in 107 families with Fukuyama-type congential muscular dystrophy (FCMD).

Published in:

Human Molecular Genetics, 1999, v. 8, n. 12, p. 2303, doi. 10.1093/hmg/8.12.2303

By:

Kondo-Iida, Eri;
Kobayashi, Kazuhiro;
Watanabe, Masashi;
Sasaki, Junko;
Kumagai, Toshiyuki;
Koide, Hiroyoshi;
Saito, Kayoko;
Osawa, Makiko;
Nakamura, Yusuke;
Toda, Tatsushi

Publication type:

Article

Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 gene.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 12, p. 2317, doi. 10.1093/hmg/8.12.2317

By:

Chiurazzi, Pietro;
Pomponi, M. Grazia;
Pietrobono, Roberta;
Bakker, Cathy E.;
Neri, Giovanni;
Oostra, Ben A.

Publication type:

Article

A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 12, p. 2191, doi. 10.1093/hmg/8.12.2191

By:

Sjoberg, Gunnar;
Saavedra-Matiz, Carlos A.;
Rosen, Daniel R.;
Wijsman, Ellen M.;
Borg, Kristian;
Horowitz, Steven H.;
Sejersen, Thomas

Publication type:

Article

A human p57[sup KIP2] transgene is not activated by passage through the maternal mouse germline.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 12, p. 2211, doi. 10.1093/hmg/8.12.2211

By:

John, Rosalind M.;
Hodges, Matt;
Little, Peter;
Barton, Sheila C.;
Surani, M. Azim

Publication type:

Article

The origin of the extra Y chromosome in males with a 47,XYY karyotype.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 12, p. 2205, doi. 10.1093/hmg/8.12.2205

By:

Robinson, David O.;
Jacobs, Patricia A.

Publication type:

Article

Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: a study of 17p11.2 rearrangements associated with CMT1A and HNPP.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 12, p. 2285, doi. 10.1093/hmg/8.12.2285

By:

Lopes, Judith;
Tardieu, Sandrine;
Silander, Kaisa;
Blair, Ian;
Vandenberghe, Antoon;
Palau, Francesco;
Ruberg, Merle;
Brice, Alexis;
LeGuern, Eric

Publication type:

Article

Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1).

Published in:

Human Molecular Genetics, 1999, v. 8, n. 12, p. 2325, doi. 10.1093/hmg/8.12.2325

By:

Sahoo, Trilochan;
Johnson, Eric W.;
Thomas, James W.;
Kuehl, Peter M.;
Jones, Thomas L.;
Dokken, Charles G.;
Touchman, Jeffrey W.;
Gallione, Carol J.;
Lee-Lin, Shih-Queen;
Kosofsky, Barry;
Kurth, Janice H.;
Louis, David N.;
Mettler, Gabrielle;
Morrison, Leslie;
Gil-Nagel, Antonio;
Rich, Steven S.;
Zabramski, Joseph M.;
Boguski, Mark S.;
Green, Eric D.;
Marchuk, Douglas A.

Publication type:

Article

CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 12, p. 2311, doi. 10.1093/hmg/8.12.2311

By:

Zhou, Guang;
Chen, Yuqing;
Zhou, Lei;
Thirunavukkarasu, Kannan;
Hecht, Jacqueline;
Chitayat, David;
Gelb, Bruce D.;
Pirinen, Sinikka;
Berry, Susan A.;
Greenberg, Cheryl R.;
Karsenty, Gerard;
Lee, Brendan

Publication type:

Article

Detection of an appropriate kinase activity in branchial arches I and II that coincides with peak expression of the Treacher Collins syndrome gene product, treacle.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 12, p. 2239, doi. 10.1093/hmg/8.12.2239

By:

Jones, Natalie C.;
Farlie, Peter G.;
Minichiello, Joe;
Newgreen, Don F.

Publication type:

Article