Works matching IS 10597794 AND DT 2012 AND VI 33 AND IP 11

Results: 15

The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.

Published in:

Human Mutation, 2012, v. 33, n. 11, p. 1520, doi. 10.1002/humu.22141

By:

Campeau, Philippe M.;
Lu, James T.;
Dawson, Brian C.;
Fokkema, Ivo F. A. C.;
Robertson, Stephen P.;
Gibbs, Richard A.;
Lee, Brendan H.

Publication type:

Article

Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain.

Published in:

Human Mutation, 2012, v. 33, n. 11, p. 1503, doi. 10.1002/humu.22144

By:

Patrinos, George P.;
Cooper, David N.;
van Mulligen, Erik;
Gkantouna, Vassiliki;
Tzimas, Giannis;
Tatum, Zuotian;
Schultes, Erik;
Roos, Marco;
Mons, Barend

Publication type:

Article

Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder.

Published in:

Human Mutation, 2012, v. 33, n. 11, p. 1599, doi. 10.1002/humu.22171

By:

Vogt, Julia;
Mussotter, Tanja;
Bengesser, Kathrin;
Claes, Kathleen;
Högel, Josef;
Chuzhanova, Nadia;
Fu, Chuanhua;
van den Ende, Jenneke;
Mautner, Victor-Felix;
Cooper, David N.;
Messiaen, Ludwine;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.

Published in:

Human Mutation, 2012, v. 33, n. 11, p. 1589, doi. 10.1002/humu.22139

By:

Barnes, Aileen M.;
Cabral, Wayne A.;
Weis, MaryAnn;
Makareeva, Elena;
Mertz, Edward L.;
Leikin, Sergey;
Eyre, David;
Trujillo, Carlos;
Marini, Joan C.

Publication type:

Article

A guide for functional analysis of BRCA1 variants of uncertain significance.

Published in:

Human Mutation, 2012, v. 33, n. 11, p. 1526, doi. 10.1002/humu.22150

By:

Millot, Gaël A.;
Carvalho, Marcelo A.;
Caputo, Sandrine M.;
Vreeswijk, Maaike P.G.;
Brown, Melissa A.;
Webb, Michelle;
Rouleau, Etienne;
Neuhausen, Susan L.;
Hansen, Thomas v. O.;
Galli, Alvaro;
Brandão, Rita D.;
Blok, Marinus J.;
Velkova, Aneliya;
Couch, Fergus J.;
Monteiro, Alvaro N.A.

Publication type:

Article

Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth Disease.

Published in:

Human Mutation, 2012, v. 33, n. 11, p. 1610, doi. 10.1002/humu.22143

By:

Choi, Byung-Ok;
Koo, Soo Kyung;
Park, Mi-Hyun;
Rhee, Hwanseok;
Yang, Song-Ju;
Choi, Kyoung-Gyu;
Jung, Sung-Chul;
Kim, Han Su;
Hyun, Young Se;
Nakhro, Khriezhanuo;
Lee, Hye Jin;
Woo, Hae-Mi;
Chung, Ki Wha

Publication type:

Article

Human variome project country nodes: Documenting genetic information within a country.

Published in:

Human Mutation, 2012, v. 33, n. 11, p. 1513, doi. 10.1002/humu.22147

By:

Patrinos, George P.;
Smith, Timothy D.;
Howard, Heather;
Al-Mulla, Fahd;
Chouchane, Lotfi;
Hadjisavvas, Andreas;
Hamed, Sherifa A.;
Li, Xi-Tao;
Marafie, Makia;
Ramesar, Rajkumar S.;
Ramos, Feliciano J.;
de Ravel, Thomy;
El-Ruby, Mona O.;
Shrestha, Tilak Ram;
Sobrido, María-Jesús;
Tadmouri, Ghazi;
Witsch-Baumgartner, Martina;
Zilfalil, Bin Alwi;
Auerbach, Arleen D.;
Carpenter, Kevin

Publication type:

Article

CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes.

Published in:

Human Mutation, 2012, v. 33, n. 11, p. 1557, doi. 10.1002/humu.22129

By:

El-Seedy, Ayman;
Girodon, Emmanuelle;
Norez, Caroline;
Pajaud, Julie;
Pasquet, Marie-Claude;
de Becdelièvre, Alix;
Bienvenu, Thierry;
des Georges, Marie;
Cabet, Faïza;
Lalau, Guy;
Bieth, Eric;
Blayau, Martine;
Becq, Frédéric;
Kitzis, Alain;
Fanen, Pascale;
Ladeveze, Véronique

Publication type:

Article

Improving the rigor of mutation reports: Biologic parentage and de novo mutations.

Published in:

Human Mutation, 2012, v. 33, n. 11, p. 1501, doi. 10.1002/humu.22131

By:

Biesecker, Leslie

Publication type:

Article

Comprehensive functional assessment of MLH1 variants of unknown significance.

Published in:

Human Mutation, 2012, v. 33, n. 11, p. 1576, doi. 10.1002/humu.22142

By:

Borràs, Ester;
Pineda, Marta;
Brieger, Angela;
Hinrichsen, Inga;
Gómez, Carolina;
Navarro, Matilde;
Balmaña, Judit;
Ramón y Cajal, Teresa;
Torres, Asunción;
Brunet, Joan;
Blanco, Ignacio;
Plotz, Guido;
Lázaro, Conxi;
Capellá, Gabriel

Publication type:

Article

The first human mitotic nonallelic homologous recombination hotspot associated with genetic disease.

Published in:

Human Mutation, 2012, v. 33, n. 11, p. v, doi. 10.1002/humu.22585

By:

Chen, Jian-Min

Publication type:

Article

Review and update of SPRED1 mutations causing legius syndrome.

Published in:

Human Mutation, 2012, v. 33, n. 11, p. 1538, doi. 10.1002/humu.22152

By:

Brems, Hilde;
Pasmant, Eric;
Van Minkelen, Rick;
Wimmer, Katharina;
Upadhyaya, Meena;
Legius, Eric;
Messiaen, Ludwine

Publication type:

Article

CNVD: Text mining-based copy number variation in disease database.

Published in:

Human Mutation, 2012, v. 33, n. 11, p. E2375, doi. 10.1002/humu.22163

By:

Qiu, Fujun;
Xu, Yan;
Li, Kening;
Li, Zihui;
Liu, Yufeng;
DuanMu, Huizi;
Zhang, Shanzhen;
Li, Zhenqi;
Chang, Zhiqiang;
Zhou, Yuanshuai;
Zhang, Rui;
Zhang, Shujuan;
Li, Chunquan;
Zhang, Yan;
Liu, Minzhai;
Li, Xia

Publication type:

Article

Oncogenic potential is related to activating effect of cancer single and double somatic mutations in receptor tyrosine kinases.

Published in:

Human Mutation, 2012, v. 33, n. 11, p. 1566, doi. 10.1002/humu.22145

By:

Hashimoto, Kosuke;
Rogozin, Igor B.;
Panchenko, Anna R.

Publication type:

Article

ABCMdb: A database for the comparative analysis of protein mutations in ABC transporters, and a potential framework for a general application.

Published in:

Human Mutation, 2012, v. 33, n. 11, p. 1547, doi. 10.1002/humu.22138

By:

Gyimesi, Gergely;
Borsodi, Dávid;
Sarankó, Hajnalka;
Tordai, Hedvig;
Sarkadi, Balázs;
Hegedűs, Tamás

Publication type:

Article