Works matching IS 09646906 AND DT 2000 AND VI 9 AND IP 4

Results: 21

Genetic variants of IL-13 signalling and human asthma and atopy.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 4, p. 549, doi. 10.1093/hmg/9.4.549

By:

Heinzmann, A.

Publication type:

Article

Expression of the human CFTR gene from episomal oriP-EBNA1-YACs in mouse cells.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 4, p. 617, doi. 10.1093/hmg/9.4.617

By:

Huertas, Dori

Publication type:

Article

A genetic risk factor for mouse neural tube defects: defining the embryonic basis.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 4, p. 575, doi. 10.1093/hmg/9.4.575

By:

Fleming, Angeleen

Publication type:

Article

Constitutive and regulated modes of splicing produce six major myotonic dystrophy protein kinase (DMPK) isoforms with distinct properties.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 4, p. 605, doi. 10.1093/hmg/9.4.605

By:

Groenen, Patricia J.T.A.

Publication type:

Article

Mapping of X-linked progressive retinal atrophy (XLPRA), the canine homolog of retinitis pigmentosa 3 (RP3).

Published in:

Human Molecular Genetics, 2000, v. 9, n. 4, p. 531, doi. 10.1093/hmg/9.4.531

By:

Zeiss, Caroline J.;
Ray, Kunal;
Acland, Gregory M.;
Aguirre, Gustavo D.

Publication type:

Article

Developmentally distinct effects on human ϵ-, γ- and δ-globin levels caused by the absence or altered position of the human β-globin gene in YAC transgenic mice.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 4, p. 561, doi. 10.1093/hmg/9.4.561

By:

Bauchwitz, Robert

Publication type:

Article

Transduction of 3 ′ -flanking sequences is common in L1 retrotransposition.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 4, p. 653, doi. 10.1093/hmg/9.4.653

By:

Goodier, John L.

Publication type:

Article

Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 4, p. 477, doi. 10.1093/hmg/9.4.477

By:

Prakash, Siddharth K.;
Paylor, Richard;
Jenna, Sarah;
Lamarche-Vane, Nathalie;
Armstrong, Dawna L.;
Xu, Bisong;
Mancini, Michael A.;
Zoghbi, Huda Y.

Publication type:

Article

Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 4, p. 597, doi. 10.1093/hmg/9.4.597

By:

Kondo, Tadashi

Publication type:

Article

Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 4, p. 645, doi. 10.1093/hmg/9.4.645

By:

D’Cruz, Patricia M.

Publication type:

Article

Cell cycle-dependent phosphorylation of the ATRX protein correlates with changes in nuclear matrix and chromatin association.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 4, p. 539, doi. 10.1093/hmg/9.4.539

By:

Bérubé, Nathalie G.;
Smeenk, Cecilia A.;
Picketts, David J.

Publication type:

Article

Genome-wide variation in recombination in female meiosis: a risk factor for non-disjunction of chromosome 21.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 4, p. 515, doi. 10.1093/hmg/9.4.515

By:

Brown, Amanda Savage

Publication type:

Article

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 4, p. 489, doi. 10.1093/hmg/9.4.489

By:

Shaikh, Tamim H.

Publication type:

Article

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 4, p. 637, doi. 10.1093/hmg/9.4.637

By:

Fonknechten, Nùria;
Mavel, Delphine;
Byrne, Paula;
Davoine, Claire-Sophie;
Cruaud, Corinne;
Boentsch, Dominikus;
Samson, Delphine;
Coutinho, Paula;
Hutchinson, Michael;
Monagle, Paul Mc;
Burgunder, Jean-Marc;
Tartaglione, Antonio;
Heinzlef, Olivier;
Feki, Imed;
Deufel, Thomas;
Parfrey, Nollaig;
Brice, Alexis;
Fontaine, Bertrand;
Prud’homme, Jean-François;
Wiessenbach, Jean

Publication type:

Article

A new gene involved in DNA double-strand break repair and V(D)J recombination is located on human chromosome 10p.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 4, p. 583, doi. 10.1093/hmg/9.4.583

By:

Moshous, Despina;
Li, Lanying;
Chasseval, Régina de;
Philippe, Noel;
Jabado, Nada;
Cowan, Morton J.;
Fischer, Alain;
Villartay, Jean-Pierre de

Publication type:

Article

An imprinted locus associated with transient neonatal diabetes mellitus.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 4, p. 589, doi. 10.1093/hmg/9.4.589

By:

Gardner, Rebecca J.

Publication type:

Article

Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in Hdh [sup Q92] and Hdh [sup Q111] knock-in mice.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 4, p. 503, doi. 10.1093/hmg/9.4.503

By:

Wheeler, Vanessa C.;
White, Jacqueline K.

Publication type:

Article

β -globin YAC transgenes exhibit uniform expression levels but position effect variegation in mice.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 4, p. 631, doi. 10.1093/hmg/9.4.631

By:

Alami, Raouf

Publication type:

Article

A functional analysis of a natural variant of intercellular adhesion molecule-1 (ICAM-1[sup Kilifi]).

Published in:

Human Molecular Genetics, 2000, v. 9, n. 4, p. 525, doi. 10.1093/hmg/9.4.525

By:

Craig, Alister

Publication type:

Article

Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 4, p. 467, doi. 10.1093/hmg/9.4.467

By:

Börner, G. Valentin

Publication type:

Article

The np 3243 MELAS mutation: damned if you aminoacylate, damned if you don't.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 4, p. 463, doi. 10.1093/hmg/9.4.463

By:

Jacobs, Howard T.

Publication type:

Article