Works matching IS 09646906 AND DT 2000 AND VI 9 AND IP 12

Results: 20

Expression and imprinting of MAGEL2 suggest a role in Prader-Willi syndrome and the homologous murine imprinting phenotype.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 12, p. 1813, doi. 10.1093/hmg/9.12.1813

By:

Lee, Syann

Publication type:

Article

CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2).

Published in:

Human Molecular Genetics, 2000, v. 9, n. 12, p. 1753, doi. 10.1093/hmg/9.12.1753

By:

Hayes, Sean;
Turecki, Gustavo;
Brisebois, Katéri;
Lopes-Cendes, Iscia;
Gaspar, Claudia;
Riess, Olaf;
Ranum, Laura P.W.;
Pulst, Stefan-M.;
Rouleau, Guy A.

Publication type:

Article

Transplacental injection of somite-derived cells in mdx mouse embryos for the correction of dystrophin deficiency.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 12, p. 1843, doi. 10.1093/hmg/9.12.1843

By:

Torrente, Y.;
D’Angelo, M.G.;
Li, Z.;
Del Bo, R.;
Corti, S.;
Mericskay, M.;
DeLiso, A.;
Fassati, A.;
Paulin, D.;
Comi, G.P.;
Scarlato, G.;
Bresolin, N.

Publication type:

Article

Link between a novel human γ D-crystallin allele and a unique cataract phenotype explained by protein crystallography.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 12, p. 1779, doi. 10.1093/hmg/9.12.1779

By:

Kmoch, Stanislav

Publication type:

Article

Ataxin-3, the MJD1 gene product, interacts with the two human homologs of yeast DNA repair protein RAD23, HHR23A and HHR23B.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 12, p. 1795, doi. 10.1093/hmg/9.12.1795

By:

Wang, Guang-hui;
Sawai, Noriko;
Kotliarova, Svetlana;
Kanazawa, Ichiro;
Nukina, Nobuyuki

Publication type:

Article

The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 12, p. 1729, doi. 10.1093/hmg/9.12.1729

By:

Anderson, David W.

Publication type:

Article

The TSC1 gene product, hamartin, negatively regulates cell proliferation.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 12, p. 1721, doi. 10.1093/hmg/9.12.1721

By:

Miloloza, Angelina

Publication type:

Article

Sequence conservation and variability of imprinting in the Beckwith-Wiedemann syndrome gene cluster in human and mouse.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 12, p. 1829, doi. 10.1093/hmg/9.12.1829

By:

Paulsen, Martina;
El-Maarri, Osman

Publication type:

Article

Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 12, p. 1873, doi. 10.1093/hmg/9.12.1873

By:

Grayson, Celene

Publication type:

Article

Fragile X CGG repeat structures among African-Americans: identification of a novel factor responsible for repeat instability.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 12, p. 1759, doi. 10.1093/hmg/9.12.1759

By:

Crawford, Dana C.;
Zhang, Fuping;
Wilson, Beth;
Warren, Stephen T.;
Sherman, Stephanie L.

Publication type:

Article

Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 12, p. 1771, doi. 10.1093/hmg/9.12.1771

By:

Nissim-Rafinia, Malka

Publication type:

Article

A Cre- lox recombination system for the targeted integration of circular yeast artificial chromosomes into embryonic stem cells.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 12, p. 1745, doi. 10.1093/hmg/9.12.1745

By:

Call, Linda M.

Publication type:

Article

Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 12, p. 1865, doi. 10.1093/hmg/9.12.1865

By:

Isaacs, Adrian M.

Publication type:

Article

Unequal exchange at the Charcot-Marie-Tooth disease type 1A recombination hot-spot is not elevated above the genome average rate.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 12, p. 1881, doi. 10.1093/hmg/9.12.1881

By:

Han, Li-Ling;
Navidi, William;
Chance, Phillip F.;
Arnheim, Norman

Publication type:

Article

A mouse model of galactose-induced cataracts.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 12, p. 1821

By:

Ai, Yunjun

Publication type:

Article

A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 12, p. 1787, doi. 10.1093/hmg/9.12.1787

By:

Guan, Min-Xin

Publication type:

Article

Human mini-chromosomes with minimal centromeres.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 12, p. 1891, doi. 10.1093/hmg/9.12.1891

By:

Yang, J.W.

Publication type:

Article

Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene ( Sim2 ) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 12, p. 1853, doi. 10.1093/hmg/9.12.1853

By:

Chrast, Roman;
Scott, Hamish S.;
Madani, Rime;
Huber, Lars;
Wolfer, David P.;
Prinz, Marco;
Aguzzi, Adriano;
Lipp, Hans-Peter;
Antonarakis, Stylianos E.

Publication type:

Article

Expression pattern of the Nijmegen breakage syndrome gene, Nbs1, during murine development.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 12, p. 1739, doi. 10.1093/hmg/9.12.1739

By:

Wilda, Monika

Publication type:

Article

Mice with a targeted disruption of the Fanconi anemia homolog Fanca.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 12, p. 1805, doi. 10.1093/hmg/9.12.1805

By:

Cheng, Ngan Ching;
van de Vrugt, Henri J.;
van der Valk, Martin A.;
Oostra, Anneke B.;
Krimpenfort, Paul;
de Vries, Yne;
Joenje, Hans;
Berns, Anton;
Arwert, Fré

Publication type:

Article