Works matching IS 10597794 AND DT 2007 AND VI 28 AND IP 11

Results: 14

Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis.

Published in:

Human Mutation, 2007, v. 28, n. 11, p. 1074, doi. 10.1002/humu.20565

By:

Cideciyan, Artur V.;
Aleman, Tomas S.;
Jacobson, Samuel G.;
Khanna, Hemant;
Sumaroka, Alexander;
Aguirre, Geoffrey K.;
Schwartz, Sharon B.;
Windsor, Elizabeth A.M.;
He, Shirley;
Chang, Bo;
Stone, Edwin M.;
Swaroop, Anand

Publication type:

Article

Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system.

Published in:

Human Mutation, 2007, v. 28, n. 11, p. 1133, doi. 10.1002/humu.20558

By:

Dobrowolski, Steven F.;
E. Ellingson, Clinton;
Caldovic, Ljubica;
Tuchman, Mendel

Publication type:

Article

Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.

Published in:

Human Mutation, 2007, v. 28, n. 11, p. 1084, doi. 10.1002/humu.20569

By:

Auclair, Jessie;
Leroux, Dominique;
Desseigne, Françoise;
Lasset, Christine;
Saurin, Jean Christophe;
Joly, Marie Odile;
Pinson, Stéphane;
Xu, Xiao Li;
Montmain, Gilles;
Ruano, Eric;
Navarro, Claudine;
Puisieux, Alain;
Wang, Qing

Publication type:

Article

Missense mutations in the TGM2 gene encoding transglutaminase 2 are found in patients with early-onset type 2 diabetes.

Published in:

Human Mutation, 2007, v. 28, n. 11, p. 1150, doi. 10.1002/humu.9511

By:

Porzio, O.;
Massa, O.;
Cunsolo, V.;
Colombo, C.;
Malaponti, M.;
Bertuzzi, F.;
Hansen, T.;
Johansen, A.;
Pedersen, O.;
Meschi, F.;
Terrinoni, A.;
Melino, G.;
Federici, M.;
Decarlo, N.;
Menicagli, M.;
Campani, D.;
Marchetti, P.;
Ferdaoussi, M.;
Froguel, P.;
Federici, G.

Publication type:

Article

Sample selection algorithm to improve quality of genotyping from plasma-derived DNA: to separate the wheat from the chaff.

Published in:

Human Mutation, 2007, v. 28, n. 11, p. 1141, doi. 10.1002/humu.20575

By:

Schoenborn, Veit;
Gohlke, Henning;
Heid, Iris M.;
Illig, Thomas;
Utermann, Gerd;
Kronenberg, Florian

Publication type:

Article

Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.

Published in:

Human Mutation, 2007, v. 28, n. 11, p. 1098, doi. 10.1002/humu.20568

By:

Saugier-Veber, Pascale;
Bonnet, Céline;
Afenjar, Alexandra;
Drouin-Garraud, Valérie;
Coubes, Christine;
Fehrenbach, Séverine;
Holder-Espinasse, Muriel;
Roume, Joëlle;
Malan, Valérie;
Portnoi, Marie-France;
Jeanne, Nicolas;
Baumann, Clarisse;
Héron, Delphine;
David, Albert;
Gérard, Marion;
Bonneau, Dominique;
Lacombe, Didier;
Cormier-Daire, Valérie;
Billette de Villemeur, Thierry;
Frébourg, Thierry

Publication type:

Article

AVPR1A and OXTR polymorphisms are associated with sexual and reproductive behavioral phenotypes in humans.

Published in:

Human Mutation, 2007, v. 28, n. 11, p. 1150, doi. 10.1002/humu.9510

By:

Prichard, Zoë M.;
Mackinnon, Andrew J.;
Jorm, Anthony F.;
Easteal, Simon

Publication type:

Article

Functional polymorphisms and haplotypes in the promoter of the MMP2 gene are associated with risk of nasopharyngeal carcinoma.

Published in:

Human Mutation, 2007, v. 28, n. 11, p. 1091, doi. 10.1002/humu.20570

By:

Zhou, Gangqiao;
Zhai, Yun;
Cui, Ying;
Qiu, Wei;
Yang, Hao;
Zhang, Xiumei;
Dong, Xiaojia;
He, Ying;
Yao, Kaitai;
Zhang, Hongxing;
Peng, Yong;
Yuan, Xiaoyan;
Zhi, Lianteng;
Zhang, Xiaoai;
He, Fuchu

Publication type:

Article

Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization.

Published in:

Human Mutation, 2007, v. 28, n. 11, p. 1124, doi. 10.1002/humu.20581

By:

Fan, Yao-Shan;
Jayakar, Parul;
Zhu, Hongbo;
Barbouth, Deborah;
Sacharow, Stephanie;
Morales, Ana;
Carver, Virginia;
Benke, Paul;
Mundy, Peter;
Elsas, Louis J.

Publication type:

Article

Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.

Published in:

Human Mutation, 2007, v. 28, n. 11, p. 1108, doi. 10.1002/humu.20574

By:

Park, Sangwook;
Park, Jung-Young;
Kim, Gu-Hwan;
Choi, Jin-Ho;
Kim, Kyung-Mo;
Kim, Jong-Bae;
Yoo, Han-Wook

Publication type:

Article

Effect of heterogeneity on the chromosome 10 risk in late-onset Alzheimer disease.

Published in:

Human Mutation, 2007, v. 28, n. 11, p. 1065, doi. 10.1002/humu.20567

By:

Liang, Xueying;
Martin, Eden R.;
Schnetz-Boutaud, Nathalie;
Bartlett, Jackie;
Anderson, Brent;
Züchner, Stephan;
Gwirtsman, Harry;
Schmechel, Don;
Carney, Regina;
Gilbert, John R.;
Pericak-Vance, Margaret A.;
Haines, Jonathan L.

Publication type:

Article

Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes.

Published in:

Human Mutation, 2007, v. 28, n. 11, p. 1047, doi. 10.1002/humu.20580

By:

Ou, Jianghua;
Niessen, Renée C.;
Lützen, Anne;
Sijmons, Rolf H.;
Kleibeuker, Jan. H.;
de Wind, Niels;
Rasmussen, Lene Juel;
Hofstra, Robert M.W.

Publication type:

Article

Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.

Published in:

Human Mutation, 2007, v. 28, n. 11, p. 1114, doi. 10.1002/humu.20577

By:

Marshall, Jan D.;
Hinman, Elizabeth G.;
Collin, Gayle B.;
Beck, Sebastian;
Cerqueira, Rita;
Maffei, Pietro;
Milan, Gabriella;
Zhang, Weidong;
Wilson, David I.;
Hearn, Tom;
Tavares, Purificação;
Vettor, Roberto;
Veronese, Caterina;
Martin, Mitchell;
So, W. Venus;
Nishina, Patsy M.;
Naggert, Jürgen K.

Publication type:

Article

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A ( TUBA1A).

Published in:

Human Mutation, 2007, v. 28, n. 11, p. 1055, doi. 10.1002/humu.20572

By:

Poirier, Karine;
Keays, David A.;
Francis, Fiona;
Saillour, Yoann;
Bahi, Nadia;
Manouvrier, Sylvie;
Fallet-Bianco, Catherine;
Pasquier, Laurent;
Toutain, Annick;
Tuy, Françoise Phan Dinh;
Bienvenu, Thierry;
Joriot, Sylvie;
Odent, Sylvie;
Ville, Dorothée;
Desguerre, Isabelle;
Goldenberg, Alice;
Moutard, Marie-Laure;
Fryns, Jean-Pierre;
van Esch, Hilde;
Harvey, Robert J.

Publication type:

Article