Works matching IS 09646906 AND DT 2001 AND VI 10 AND IP 13

Results: 22

Differential expression of the actin-binding proteins, α -actinin-2 and -3, in different species: implications for the evolution of functional redundancy.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 13

By:

Mills, Michelle;
Yang, Nan;
Weinberger, Ron;
Vander Woude, Douglas L.;
Beggs, Alan H.;
Easteal, Simon;
North, Kathryn

Publication type:

Article

Identification of susceptibility loci for autoimmune thyroid disease to 5q31–q33 and Hashimoto’s thyroiditis to 8q23–q24 by multipoint affected sib-pair linkage analysis in Japanese.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 13

By:

Sakai, Kenji;
Shirasawa, Senji;
Ishikawa, Naofumi;
Ito, Kunihiko;
Tamai, Hajime;
Kuma, Kanji;
Akamizu, Takashi;
Tanimura, Masako;
Furugaki, Koichi;
Yamamoto, Ken;
Sasazuki, Takehiko

Publication type:

Article

Control of Xist expression for imprinted and random X chromosome inactivation in mice.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 13, doi. 10.1093/hmg/10.13.1393

By:

Matsui, Junko

Publication type:

Article

Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 13, doi. 10.1093/hmg/10.13.1431

By:

Das, Amit K.

Publication type:

Article

Analysis of several endoglin mutants reveals no endogenous mature or secreted protein capable of interfering with normal endoglin function.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 13

By:

Paquet, Marie-Eve

Publication type:

Article

Localization of a novel susceptibility gene for familial ovarian cancer to chromosome 3p22–p25.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 13, doi. 10.1093/hmg/10.13.1421

By:

Sekine, Masayuki

Publication type:

Article

OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 13, doi. 10.1093/hmg/10.13.1359

By:

Pesch, Ulrike E.A.;
Leo-Kottler, Beate;
Mayer, Simone;
Kellner, Ulrich;
Apfelstedt-Sylla, Eckart;
Zrenner, Eberhart;
Alexander, Christiane;
Wissinger, Bernd

Publication type:

Article

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 13, doi. 10.1093/hmg/10.13.1369

By:

Toomes, Carmel

Publication type:

Article

Recombination hotspot in NF1 microdeletion patients.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 13, doi. 10.1093/hmg/10.13.1387

By:

López-Correa, Catalina

Publication type:

Article

Excessive CpG island hypermethylation in cancer cell lines versus primary human malignancies.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 13, doi. 10.1093/hmg/10.13.1413

By:

Smiraglia, Dominic J.

Publication type:

Article

Tsix -mediated repression of Xist accumulation is not sufficient for normal random X inactivation.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 13, doi. 10.1093/hmg/10.13.1403

By:

Morey, Céline

Publication type:

Article

Tsix-mediated repression of Xist accumulation is not sufficient for normal random X inactivation.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 13, p. 1403, doi. 10.1093/hmg/10.13.1403

By:

Morey, Céline;
Arnaud, Danielle;
Avner, Philip;
Clerc, Philippe

Publication type:

Article

Excessive CpG island hypermethylation in cancer cell lines versus primary human malignancies.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 13, p. 1413, doi. 10.1093/hmg/10.13.1413

By:

Smiraglia, Dominic J.;
Rush, Laura J.;
Frühwald, Michael C.;
Dai, Zunyan;
Held, William A.;
Costello, Joseph F.;
Lang, James C.;
Eng, Charis;
Bin Li;
Wright, Fred A.;
Caligiuri, Michael A.;
Plass, Christoph

Publication type:

Article

Recombination hotspot in NF1 microdeletion patients.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 13, p. 1387, doi. 10.1093/hmg/10.13.1387

By:

López-Correa, Catalina;
Dorschner, Michael;
Brems, Hilde;
Lázaro, Conxi;
Clementi, Maurizio;
Upadhyaya, Meena;
Dooijes, Dennis;
Moog, Ute;
Kehrer-Sawatzki, Hildegard;
Rutkowski, J. Lynn;
Fryns, Jean-Pierre;
Marynen, Peter;
Stephens, Karen;
Legius, Eric

Publication type:

Article

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 13, p. 1369, doi. 10.1093/hmg/10.13.1369

By:

Toomes, Carmel;
Marchbank, Nicola J.;
Mackey, David A.;
Craig, Jamie E.;
Newbury-Ecob, Ruth A.;
Bennett, Chris P.;
Vize, Colin J.;
Desai, Shrivatsa P.;
Black, Graeme C. M.;
Patel, Nishal;
Teimory, Masoud;
Markham, Alexander F.;
Inglehearn, Chris F.;
Churchill, Amanda J.

Publication type:

Article

OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 13, p. 1359, doi. 10.1093/hmg/10.13.1359

By:

Pesch, Ulrike E. A.;
Leo-Kottler, Beate;
Mayer, Simone;
Jurklies, Bernhard;
Kellner, Ulrich;
Apfelstedt-Sylla, Eckart;
Zrenner, Eberhart;
Alexander, Christiane;
Wissinger, Bernd

Publication type:

Article

Localization of a novel susceptibility gene for familial ovarian cancer to chromosome 3p22–p25.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 13, p. 1421, doi. 10.1093/hmg/10.13.1421

By:

Sekine, Masayuki;
Nagata, Hiroshi;
Tsuji, Shoji;
Hirai, Yasuo;
Fujimoto, Seiichiro;
Hatae, Masayuki;
Kobayashi, Iwao;
Fujii, Tsuneo;
Nagata, Ichiro;
Ushijima, Kimio;
Obata, Koshiro;
Suzuki, Mitsuaki;
Yoshinaga, Mitsuhiro;
Umesaki, Naohiko;
Satoh, Shinji;
Enomoto, Takayuki;
Motoyama, Satoru;
Tanaka, Kenichi

Publication type:

Article

Analysis of several endoglin mutants reveals no endogenous mature or secreted protein capable of interfering with normal endoglin function.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 13, p. 1347, doi. 10.1093/hmg/10.13.1347

By:

Paquet, Marie-Eve;
Pece-Barbara, Nadia;
Vera, Sonia;
Cymerman, Urszula;
Karabegovic, Amna;
Shovlin, Claire;
Letarte, Michelle

Publication type:

Article

Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 13, p. 1431, doi. 10.1093/hmg/10.13.1431

By:

Das, Amit K.;
Jui-Yun Lu;
Hofmann, Sandra L.

Publication type:

Article

Control of Xist expression for imprinted and random X chromosome inactivation in mice.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 13, p. 1393, doi. 10.1093/hmg/10.13.1393

By:

Matsui, Junko;
Goto, Yuji;
Takagi, Nobuo

Publication type:

Article

Identification of susceptibility loci for autoimmune thyroid disease to 5q31–q33 and Hashimoto’s thyroiditis to 8q23–q24 by multipoint affected sib-pair linkage analysis in Japanese.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 13, p. 1379, doi. 10.1093/hmg/10.13.1379

By:

Sakai, Kenji;
Shirasawa, Senji;
Ishikawa, Naofumi;
Ito, Kunihiko;
Tamai, Hajime;
Kuma, Kanji;
Akamizu, Takashi;
Tanimura, Masako;
Furugaki, Koichi;
Yamamoto, Ken;
Sasazuki, Takehiko

Publication type:

Article

Differential expression of the actin-binding proteins, α-actinin-2 and -3, in different species: implications for the evolution of functional redundancy.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 13, p. 1335, doi. 10.1093/hmg/10.13.1335

By:

Mills, Michelle A.;
Nan Yang;
P. Weinberger, Ron;
Woude, Douglas L. Vander;
Beggs, Alan H.;
Easteal, Simon;
North, Kathryn N.

Publication type:

Article