Works matching IS 09646906 AND DT 2002 AND VI 11 AND IP 25

Results: 13

Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in Hyper-IgD and periodic fever syndrome.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 25, p. 3115, doi. 10.1093/hmg/11.25.3115

By:

Houten, Sander M.;
Frenkel, Joost;
Rijkers, Ger T.;
Wanders, Ronald J.A.;
Kuis, Wietse;
Waterham, Hans R.

Publication type:

Article

SLUG (SNAI2) deletions in patients with Waardenburg disease.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 25, p. 3231, doi. 10.1093/hmg/11.25.3231

By:

Sánchez-Martín, Manuel;
Rodríguez-García, Arancha;
Pérez-Losada, Jesús;
Sagrera, Ana;
Read, Andrew P.;
Sánchez-García, Isidro

Publication type:

Article

Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 25, p. 3209, doi. 10.1093/hmg/11.25.3209

By:

Deery, Evelyne C.;
Vithana, Eranga N.;
Newbold, Richard J.;
Gallon, Victoria A.;
Bhattacharya, Shomi S.;
Warren, Martin. J.;
Hunt, David M.;
Wilkie, Susan E.

Publication type:

Article

Allelic inactivation of the pseudoautosomal gene SYBL1 is controlled by epigenetic mechanisms common to the X and Y chromosomes.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 25, p. 3191, doi. 10.1093/hmg/11.25.3191

By:

Matarazzo, Maria Rosaria;
De Bonis, Maria Luigia;
Gregory, Richard I.;
Vacca, Marcella;
Hansen, R. Scott;
Mercadante, Grazia;
D'Urso, Michele;
Feil, Robert;
D'Esposito, Maurizio

Publication type:

Article

Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant micro-phthalmia with linear skin defects (MLS) syndrome.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 25, p. 3237, doi. 10.1093/hmg/11.25.3237

By:

Prakash, Siddharth K.;
Cormier, Trena A.;
McCall, Alanna E.;
Garcia, Jesus J.;
Sierra, Rebecca;
Haupt, Bisong;
Zoghbi, Huda Y.;
Van den Veyver, Ignatia B.

Publication type:

Article

The Bloom syndrome helicase BLM interacts with TRF2 in ALT cells and promotes telomeric DNA synthesis.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 25, p. 3135, doi. 10.1093/hmg/11.25.3135

By:

Stavropoulos, Dimitrios J.;
Bradshaw, Paul S.;
Li, Xiaobin;
Pasic, Ivan;
Truong, Kevin;
Ikura, Mitsuhiko;
Ungrin, Mark;
Meyn, M. Stephen

Publication type:

Article

Unbalanced X;autosome translocations provide evidence for sequence specificity in the association of XIST RNA with chromatin.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 25, p. 3157, doi. 10.1093/hmg/11.25.3157

By:

Hall, Lisa L.;
Clemson, Christine M.;
Byron, Meg;
Wydner, Karen;
Lawrence, Jeanne B.

Publication type:

Article

Molecular and cytogenetic analysis of the spreading of X inactivation in X;autosome translocations.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 25, p. 3145, doi. 10.1093/hmg/11.25.3145

By:

Sharp, Andrew J.;
Spotswood, Hugh T.;
Robinson, David O.;
Turner, Bryan M.;
Jacobs, Patricia A.

Publication type:

Article

Neurofibromatosis 2 (NF2) tumor suppressor schwannomin and its interacting protein HRS regulate STAT signaling.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 25, p. 3179, doi. 10.1093/hmg/11.25.3179

By:

Scoles, Daniel R.;
Nguyen, Vu D.;
Qin, Yun;
Sun, Chun-Xiao;
Morrison, Helen;
Gutmann, David H.;
Pulst, Stefan-M.

Publication type:

Article

Functional analysis of the relationship between the neurofibromatosis 2 tumor suppressor and its binding partner, hepatocyte growth factor-regulated tyrosine kinase substrate.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 25, p. 3167, doi. 10.1093/hmg/11.25.3167

By:

Sun, Chun-Xiao;
Haipek, Carrie;
Scoles, Daniel R.;
Pulst, Stefan M.;
Giovannini, Marco;
Komada, Masayuki;
Gutmann, David H.

Publication type:

Article

Structure–function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 25, p. 3199, doi. 10.1093/hmg/11.25.3199

By:

Chen, Li-Yuan;
Pan, Chi-Jiunn;
Shieh, Jeng-Jer;
Chou, Janice Yang

Publication type:

Article

A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 25, p. 3221, doi. 10.1093/hmg/11.25.3221

By:

Buckley, Patrick G.;
Mantripragada, Kiran K.;
Benetkiewicz, Magdalena;
Tapia-Páez, Isabel;
Diaz de Ståhl, Teresita;
Rosenquist, Magnus;
Ali, Haider;
Jarbo, Caroline;
de Bustos, Cecilía;
Hirvelä, Carina;
Sinder Wilén, Birgitta;
Fransson, Ingegerd;
Thyr, Charlotte;
Johnsson, Britt-Inger;
Bruder, Carl E.G.;
Menzel, Uwe;
Hergersberg, Martin;
Mandahl, Nils;
Blennow, Elisabeth;
Wedell, Anna

Publication type:

Article

Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 25, p. 3125, doi. 10.1093/hmg/11.25.3125

By:

Adachi, Daiki;
Oda, Tsukasa;
Yagasaki, Hiroshi;
Nakasato, Keiko;
Taniguchi, Toshiyasu;
D'Andrea, Alan D.;
Asano, Shigetaka;
Yamashita, Takayuki

Publication type:

Article