Works matching IS 09646906 AND DT 2001 AND VI 10 AND IP 4

Results: 12

A mutation in α -tropomyosin[sub slow] affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 4, p. 317, doi. 10.1093/hmg/10.4.317

By:

Corbett, Mark A.;
Robinson, C. Stephen;
Dunglison, Greta F.;
Yang, Nan;
Joya, Josephine E.;
Stewart, Angus W.;
Schnell, Christina;
Gunning, Peter W.;
North, Kathryn N.;
Hardeman, Edna C.

Publication type:

Article

Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 4, p. 353, doi. 10.1093/hmg/10.4.353

By:

Vallon-Christersson, Johan;
Cayanan, Charmagne;
Haraldsson, Karin;
Loman, Niklas;
Bergthorsson, Jon Thor;
Brøndum-Nielsen, Karen;
Gerdes, Anne-Marie;
Møller, Pål;
Kristoffersson, Ulf;
Olsson, Håkan;
Borg, Åke;
Monteiro, Alvaro N.A.

Publication type:

Article

Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 4, p. 405, doi. 10.1093/hmg/10.4.405

By:

Morrissette, Jennifer J.D.

Publication type:

Article

Large-scale evaluation of imprinting status in the Prader–Willi syndrome region: an imprinted direct repeat cluster resembling small nucleolar RNA genes.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 4, p. 383, doi. 10.1093/hmg/10.4.383

By:

Meguro, Makiko;
Mitsuya, Kohzoh

Publication type:

Article

Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 4, p. 339, doi. 10.1093/hmg/10.4.339

By:

Daniels, Rachael J.;
Peden, John F.;
Lloyd, Christine

Publication type:

Article

Evidence that fragile X mental retardation protein is a negative regulator of translation.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 4, p. 329, doi. 10.1093/hmg/10.4.329

By:

Laggerbauer, Bernhard;
Ostareck, Dirk;
Keidel, Eva-Maria;
Ostareck-Lederer, Antje;
Fischer, Utz

Publication type:

Article

Direct interactions of the five known Fanconi anaemia proteins suggest a common functional pathway.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 4, p. 423, doi. 10.1093/hmg/10.4.423

By:

Medhurst, Annette L.;
Huber, Pia A.J.;
Waisfisz, Quinten;
deWinter, Johan P.;
Mathew, Christopher G.

Publication type:

Article

Comparative genome analysis delimits a chromosomal domain and identifies key regulatory elements in the α globin cluster.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 4, p. 371, doi. 10.1093/hmg/10.4.371

By:

Flint, Jonathan;
Tufarelli, Cristina;
Peden, John;
Clark, Kevin;
Daniels, Rachael J.;
Hardison, Ross;
Miller, Webb;
Philipsen, Sjaak;
Tan-Un, Kian Chen;
McMorrow, Tara;
Frampton, Jonathan;
Alter, Blanche P.

Publication type:

Article

Fusion of the MORF and CBP genes in acute myeloid leukemia with the t(10;16)(q22;p13).

Published in:

Human Molecular Genetics, 2001, v. 10, n. 4, p. 395, doi. 10.1093/hmg/10.4.395

By:

Panagopoulos, Ioannis

Publication type:

Article

Functional analysis of mutations in SLC7A9 , and genotype–phenotype correlation in non-Type I cystinuria.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 4, p. 305, doi. 10.1093/hmg/10.4.305

By:

Font, Mariona

Publication type:

Article

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot–Marie–Tooth disease.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 4, p. 415, doi. 10.1093/hmg/10.4.415

By:

Guilbot, Angèle

Publication type:

Article

Effect of the toxic milk mutation ( tx) on the function and intracellular localization of Wnd, the murine homologue of the Wilson copper ATPase.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 4, p. 361, doi. 10.1093/hmg/10.4.361

By:

La Fontaine, Sharon

Publication type:

Article