Works matching IS 10597794 AND DT 2008 AND VI 29 AND IP 10

Results: 11

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.

Published in:

Human Mutation, 2008, v. 29, n. 10, p. 1237, doi. 10.1002/humu.20792

By:

Prattichizzo, Clelia;
Macca, Marina;
Novelli, Valeria;
Giorgio, Giovanna;
Barra, Adriano;
Franco, Brunella

Publication type:

Article

Complex signatures of locus-specific selective pressures and gene conversion on Human Growth Hormone/Chorionic Somatomammotropin genes.

Published in:

Human Mutation, 2008, v. 29, n. 10, p. 1181, doi. 10.1002/humu.20767

By:

Sedman, Laura;
Padhukasahasram, Badri;
Kelgo, Piret;
Laan, Maris

Publication type:

Article

In memoriam: Victor A. McKusick (1921-2008).

Published in:

Human Mutation, 2008, v. 29, n. 10, p. 1169, doi. 10.1002/humu.20890

By:

Cotton, Richard G.H.;
Kazazian, Haig H.;
Cutting, Garry R.;
Paalman, Mark H.

Publication type:

Article

High-resolution mapping of the 8p23.1 beta-defensin cluster reveals strictly concordant copy number variation of all genes.

Published in:

Human Mutation, 2008, v. 29, n. 10, p. 1247, doi. 10.1002/humu.20751

By:

Groth, Marco;
Szafranski, Karol;
Taudien, Stefan;
Huse, Klaus;
Mueller, Oliver;
Rosenstiel, Philip;
Nygren, Anders O.H.;
Schreiber, Stefan;
Birkenmeier, Gerd;
Platzer, Matthias

Publication type:

Article

Investigation of citrullinemia type I variants by in vitro expression studies.

Published in:

Human Mutation, 2008, v. 29, n. 10, p. 1222, doi. 10.1002/humu.20784

By:

Berning, Christoph;
Bieger, Iris;
Pauli, Silke;
Vermeulen, Tim;
Vogl, Thomas;
Rummel, Till;
Höhne, Wolfgang;
Koch, Hans Georg;
Rolinski, Boris;
Gempel, Klaus;
Häberle, Johannes

Publication type:

Article

Further evidence for allelic heterogeneity in Hartnup disorder.

Published in:

Human Mutation, 2008, v. 29, n. 10, p. 1217, doi. 10.1002/humu.20777

By:

Azmanov, Dimitar N.;
Kowalczuk, Sonja;
Rodgers, Helen;
Auray-Blais, Christiane;
Giguère, Robert;
Rasko, John E.J.;
Bröer, Stefan;
Cavanaugh, Juleen A.

Publication type:

Article

Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia.

Published in:

Human Mutation, 2008, v. 29, n. 10, p. 1228, doi. 10.1002/humu.20790

By:

Reuter, Peggy;
Koeppen, Katja;
Ladewig, Thomas;
Kohl, Susanne;
Baumann, Britta;
Wissinger, Bernd

Publication type:

Article

An unusual haplotype structure on human chromosome 8p23 derived from the inversion polymorphism.

Published in:

Human Mutation, 2008, v. 29, n. 10, p. 1209, doi. 10.1002/humu.20775

By:

Deng, Libin;
Zhang, Yuezheng;
Kang, Jian;
Liu, Tao;
Zhao, Hongbin;
Gao, Yang;
Li, Chaohua;
Pan, Hao;
Tang, Xiaoli;
Wang, Dunmei;
Niu, Tianhua;
Yang, Huanming;
Zeng, Changqing

Publication type:

Article

Dynamic nature of the proximal AZFc region of the human Y chromosome: multiple independent deletion and duplication events revealed by microsatellite analysis.

Published in:

Human Mutation, 2008, v. 29, n. 10, p. 1171, doi. 10.1002/humu.20757

By:

Balaresque, Patricia;
Bowden, Georgina R.;
Parkin, Emma J.;
Omran, Ghada A.;
Heyer, Evelyne;
Quintana-Murci, Lluis;
Roewer, Lutz;
Stoneking, Mark;
Nasidze, Ivan;
Carvalho-Silva, Denise R.;
Tyler-Smith, Chris;
de Knijff, Peter;
Jobling, Mark A.

Publication type:

Article

Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 ( XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.

Published in:

Human Mutation, 2008, v. 29, n. 10, p. 1194, doi. 10.1002/humu.20768

By:

Boyle, Jennifer;
Ueda, Takahiro;
Oh, Kyu-Seon;
Imoto, Kyoko;
Tamura, Deborah;
Jagdeo, Jared;
Khan, Sikandar G.;
Nadem, Carine;
DiGiovanna, John J.;
Kraemer, Kenneth H.

Publication type:

Article

Rapid detection of methylation change at H19 in human imprinting disorders using methylation-sensitive high-resolution melting.

Published in:

Human Mutation, 2008, v. 29, n. 10, p. 1255, doi. 10.1002/humu.20779

By:

Wojdacz, Tomasz K.;
Dobrovic, Alexander;
Algar, Elizabeth M.

Publication type:

Article