Works matching IS 09646906 AND DT 2000 AND VI 9 AND IP 10

Results: 11

Sexually dimorphic expression of protease nexin-1 and vanin-1 in the developing mouse gonad prior to overt differentiation suggests a role in mammalian sexual development.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 10, p. 1553, doi. 10.1093/hmg/9.10.1553

By:

Grimmond, Sean

Publication type:

Article

Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 10, p. 1501, doi. 10.1093/hmg/9.10.1501

By:

Kmoch, Stanislav

Publication type:

Article

Genome search for susceptibility loci of common idiopathic generalised epilepsies.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 10, p. 1465, doi. 10.1093/hmg/9.10.1465

By:

Sander, Thomas

Publication type:

Article

The fragile X-related proteins FXR1P and FXR2P contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteins.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 10, p. 1487, doi. 10.1093/hmg/9.10.1487

By:

Tamanini, Filippo

Publication type:

Article

The most frequent constitutional translocation in humans, the t(11;22)(q23;q11) is due to a highly specific Alu-mediated recombination.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 10, p. 1525, doi. 10.1093/hmg/9.10.1525

By:

Hill, Alexander S.

Publication type:

Article

Loss of DAL-1, a protein 4.1-related tumor suppressor, is an important early event in the pathogenesis of meningiomas.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 10, p. 1495, doi. 10.1093/hmg/9.10.1495

By:

Gutmann, David H.

Publication type:

Article

Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 10, p. 1473, doi. 10.1093/hmg/9.10.1473

By:

Dixon, Jill

Publication type:

Article

A candidate gene for psoriasis near HLA-C, HCR (Pg8), is highly polymorphic with a disease-associated susceptibility allele.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 10, p. 1533, doi. 10.1093/hmg/9.10.1533

By:

Asumalahti, Kati

Publication type:

Article

Restricted polymorphism of the mannose-binding lectin gene of indigenous Australians.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 10, p. 1481, doi. 10.1093/hmg/9.10.1481

By:

Turner, Malcolm W.

Publication type:

Article

A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 10, p. 1515, doi. 10.1093/hmg/9.10.1515

By:

Brown, Rosemary L.

Publication type:

Article

The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1).

Published in:

Human Molecular Genetics, 2000, v. 9, n. 10, p. 1543, doi. 10.1093/hmg/9.10.1543

By:

Nemes, Jozsef P.

Publication type:

Article