Works matching IS 10597794 AND DT 2011 AND VI 32 AND IP 10

Results: 19

On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.

Published in:

Human Mutation, 2011, v. 32, n. 10, p. 1075, doi. 10.1002/humu.21557

By:

Cooper, David N.;
Bacolla, Albino;
Férec, Claude;
Vasquez, Karen M.;
Kehrer-Sawatzki, Hildegard;
Chen, Jian-Min

Publication type:

Article

Digenic Inheritance in Axenfeld Rieger Syndrome.

Published in:

Human Mutation, 2011, v. 32, n. 10, p. iv, doi. 10.1002/humu.21593

By:

Weisschuh, Nicole

Publication type:

Article

DRUMS: A human disease related unique gene mutation search engine.

Published in:

Human Mutation, 2011, v. 32, n. 10, p. E2259, doi. 10.1002/humu.21556

By:

Li, Zuofeng;
Liu, Xingnan;
Wen, Jingran;
Xu, Ye;
Zhao, Xin;
Li, Xuan;
Liu, Lei;
Zhang, Xiaoyan

Publication type:

Article

N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy.

Published in:

Human Mutation, 2011, v. 32, n. 10, p. 1153, doi. 10.1002/humu.21553

By:

Heibel, Sandra K.;
Ah Mew, Nicholas;
Caldovic, Ljubica;
Daikhin, Yevgeny;
Yudkoff, Marc;
Tuchman, Mendel

Publication type:

Article

REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.

Published in:

Human Mutation, 2011, v. 32, n. 10, p. 1118, doi. 10.1002/humu.21542

By:

Goizet, Cyril;
Depienne, Christel;
Benard, Giovanni;
Boukhris, Amir;
Mundwiller, Emeline;
Solé, Guilhem;
Coupry, Isabelle;
Pilliod, Julie;
Martin-Négrier, Marie-Laure;
Fedirko, Estelle;
Forlani, Sylvie;
Cazeneuve, Cécile;
Hannequin, Didier;
Charles, Perrine;
Feki, Imed;
Pinel, Jean-François;
Ouvrard-Hernandez, Anne-Marie;
Lyonnet, Stanislas;
Ollagnon-Roman, Elisabeth;
Yaouanq, Jacqueline

Publication type:

Article

Rare disease registries and mutation/variation databases.

Published in:

Human Mutation, 2011, v. 32, n. 10, p. 1073, doi. 10.1002/humu.21596

By:

Cotton, Richard G. H.

Publication type:

Article

The international dystrophic epidermolysis bullosa patient registry: An online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.

Published in:

Human Mutation, 2011, v. 32, n. 10, p. 1100, doi. 10.1002/humu.21551

By:

van den Akker, Peter C.;
Jonkman, Marcel F.;
Rengaw, Trebor;
Bruckner-Tuderman, Leena;
Has, Cristina;
Bauer, Johann W.;
Klausegger, Alfred;
Zambruno, Giovanna;
Castiglia, Daniele;
Mellerio, Jemima E.;
McGrath, John A.;
van Essen, Anthonie J.;
Hofstra, Robert M.W.;
Swertz, Morris A.

Publication type:

Article

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.

Published in:

Human Mutation, 2011, v. 32, n. 10, p. 1114, doi. 10.1002/humu.21546

By:

Majewski, Jacek;
Schwartzentruber, Jeremy A.;
Caqueret, Aurore;
Patry, Lysanne;
Marcadier, Janet;
Fryns, Jean-Pierre;
Boycott, Kym M.;
Ste-Marie, Louis-Georges;
McKiernan, Fergus E.;
Marik, Ivo;
Van Esch, Hilde;
Michaud, Jacques L.;
Samuels, Mark E.

Publication type:

Article

Disrupted posttranscriptional regulation of the cystic fibrosis transmembrane conductance regulator (CFTR) by a 5′UTR mutation is associated with a cftr-related disease.

Published in:

Human Mutation, 2011, v. 32, n. 10, p. E2266, doi. 10.1002/humu.21545

By:

Lukowski, Samuel W.;
Bombieri, Cristina;
Trezise, Ann E. O.

Publication type:

Article

Non-Canonical DNA Structures in Genomic DNA and Their Role in Predisposition to Mutations.

Published in:

Human Mutation, 2011, v. 32, n. 10, p. iv, doi. 10.1002/humu.21592

By:

Ganguly, Arupa

Publication type:

Article

A cis-acting regulatory variation of the estrogen receptor α ( ESR1) gene is associated with hepatitis B virus-related liver cirrhosis.

Published in:

Human Mutation, 2011, v. 32, n. 10, p. 1128, doi. 10.1002/humu.21544

By:

Yan, Zehui;
Tan, Wenting;
Xu, Baoyan;
Dan, Yunjie;
Zhao, Wenli;
Deng, Chunqing;
Chen, Wen;
Tan, Shun;
Mao, Qing;
Wang, Yuming;
Deng, Guohong

Publication type:

Article

Digenic inheritance of mutations in FOXC1 and PITX2 : Correlating transcription factor function and axenfeld-rieger disease severity.

Published in:

Human Mutation, 2011, v. 32, n. 10, p. 1144, doi. 10.1002/humu.21550

By:

Kelberman, Daniel;
Islam, Lily;
Holder, Susan E.;
Jacques, Thomas S.;
Calvas, Patrick;
Hennekam, Raoul C.;
Nischal, Ken K.;
Sowden, Jane C.

Publication type:

Article

Correlating disease-related mutations to their effect on protein stability: A large-scale analysis of the human proteome.

Published in:

Human Mutation, 2011, v. 32, n. 10, p. 1161, doi. 10.1002/humu.21555

By:

Casadio, Rita;
Vassura, Marco;
Tiwari, Shalinee;
Fariselli, Piero;
Luigi Martelli, Pier

Publication type:

Article

Prediction of functional regulatory SNPs in monogenic and complex disease.

Published in:

Human Mutation, 2011, v. 32, n. 10, p. 1183, doi. 10.1002/humu.21559

By:

Zhao, Yiqiang;
Clark, Wyatt T.;
Mort, Matthew;
Cooper, David N.;
Radivojac, Predrag;
Mooney, Sean D.

Publication type:

Article

Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort.

Published in:

Human Mutation, 2011, v. 32, n. 10, p. 1108, doi. 10.1002/humu.21543

By:

Bouilly, Justine;
Bachelot, Anne;
Broutin, Isabelle;
Touraine, Philippe;
Binart, Nadine

Publication type:

Article

Temperature and pharmacological rescue of a folding-defective, dominantl-negative K<sub>V</sub>7.2 mutation associated with neonatal seizures.

Published in:

Human Mutation, 2011, v. 32, n. 10, p. E2283, doi. 10.1002/humu.21554

By:

Maljevic, Snezana;
Naros, Georgios;
Yalçin, Özlem;
Blazevic, Dragica;
Loeffler, Heidi;
Çağlayan, Hande;
Steinlein, Ortrud K.;
Lerche, Holger

Publication type:

Article

A Severe Form of Abetalipoproteinemia Caused by New Splicing Mutations of Microsomal Triglyceride Transfer Protein.

Published in:

Human Mutation, 2011, v. 32, n. 10, p. 1191, doi. 10.1002/humu.21594

By:

Pons, Véronique;
Rolland, Corinne;
Nauze, Michel;
Danjoux, Marie;
Gaibelet, Gérald;
Durandy, Anne;
Sassolas, Agnès;
Lévy, Emile;
Tercé, François;
Collet, Xavier;
Mas, Emmanuel

Publication type:

Article

New insights into the pathogenesis of beckwith-wiedemann and silver-russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects.

Published in:

Human Mutation, 2011, v. 32, n. 10, p. 1171, doi. 10.1002/humu.21558

By:

Demars, Julie;
Rossignol, Sylvie;
Netchine, Irène;
Lee, Kai Syin;
Shmela, Mansur;
Faivre, Laurence;
Weill, Jacques;
Odent, Sylvie;
Azzi, Salah;
Callier, Patrick;
Lucas, Josette;
Dubourg, Christèle;
Andrieux, Joris;
Bouc, Yves Le;
El-Osta, Assam;
Gicquel, Christine

Publication type:

Article

Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease.

Published in:

Human Mutation, 2011, v. 32, n. 10, p. 1137, doi. 10.1002/humu.21547

By:

Wolf, Andreas;
Caliebe, Amke;
Thomas, Nick S.T.;
Ball, Edward V.;
Mort, Matthew;
Stenson, Peter D.;
Krawczak, Michael;
Cooper, David N.

Publication type:

Article