Works matching IS 10597794 AND DT 2013 AND VI 34 AND IP 3

Results: 16

Identification of a Novel Oligomerization Disrupting Mutation in CRYΑA Associated with Congenital Cataract in a South Australian Family.

Published in:

Human Mutation, 2013, v. 34, n. 3, p. 435, doi. 10.1002/humu.22260

By:

Laurie, Kate J.;
Dave, Alpana;
Straga, Tania;
Souzeau, Emmanuelle;
Chataway, Timothy;
Sykes, Matthew J.;
Casey, Theresa;
Teo, Theodosia;
Pater, John;
Craig, Jamie E.;
Sharma, Shiwani;
Burdon, Kathryn P.

Publication type:

Article

Exome Sequencing Identifies A Branch Point Variant in Aarskog-Scott Syndrome.

Published in:

Human Mutation, 2013, v. 34, n. 3, p. 430, doi. 10.1002/humu.22252

By:

Aten, Emmelien;
Sun, Yu;
Almomani, Rowida;
Santen, Gijs W.E.;
Messemaker, Tobias;
Maas, Saskia M.;
Breuning, Martijn H.;
den Dunnen, Johan T.

Publication type:

Article

RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy.

Published in:

Human Mutation, 2013, v. 34, n. 3, p. 506, doi. 10.1002/humu.22264

By:

Davidson, Alice E.;
Sergouniotis, Panagiotis I.;
Mackay, Donna S.;
Wright, Genevieve A.;
Waseem, Naushin H.;
Michaelides, Michel;
Holder, Graham E.;
Robson, Anthony G.;
Moore, Anthony T.;
Plagnol, Vincent;
Webster, Andrew R.

Publication type:

Article

Human Variation 2.0: Using GWAS to Probe Intermediate Phenotypes.

Published in:

Human Mutation, 2013, v. 34, n. 3, p. iv, doi. 10.1002/humu.22181

By:

Chanock, Stephen J.

Publication type:

Article

Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation.

Published in:

Human Mutation, 2013, v. 34, n. 3, p. 446, doi. 10.1002/humu.22257

By:

Miyake, Noriko;
Yano, Shoji;
Sakai, Chika;
Hatakeyama, Hideyuki;
Matsushima, Yuichi;
Shiina, Masaaki;
Watanabe, Yoriko;
Bartley, James;
Abdenur, Jose E.;
Wang, Raymond Y.;
Chang, Richard;
Tsurusaki, Yoshinori;
Doi, Hiroshi;
Nakashima, Mitsuko;
Saitsu, Hirotomo;
Ogata, Kazuhiro;
Goto, Yu‐ichi;
Matsumoto, Naomichi

Publication type:

Article

A Genome-Wide Assessment of Variability in Human Serum Metabolism.

Published in:

Human Mutation, 2013, v. 34, n. 3, p. 515, doi. 10.1002/humu.22267

By:

Hong, Mun‐Gwan;
Karlsson, Robert;
Magnusson, Patrik K. E.;
Lewis, Matthew R.;
Isaacs, William;
Zheng, Lilly S.;
Xu, Jianfeng;
Grönberg, Henrik;
Ingelsson, Erik;
Pawitan, Yudi;
Broeckling, Corey;
Prenni, Jessica E.;
Wiklund, Fredrik;
Prince, Jonathan A.

Publication type:

Article

Analysis of BRCA1 Variants in Double-Strand Break Repair by Homologous Recombination and Single-Strand Annealing.

Published in:

Human Mutation, 2013, v. 34, n. 3, p. 439, doi. 10.1002/humu.22251

By:

Towler, William I.;
Zhang, Jie;
Ransburgh, Derek J. R.;
Toland, Amanda E.;
Ishioka, Chikashi;
Chiba, Natsuko;
Parvin, Jeffrey D.

Publication type:

Article

Mutations in CCDC 39 and CCDC 40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms.

Published in:

Human Mutation, 2013, v. 34, n. 3, p. 462, doi. 10.1002/humu.22261

By:

Antony, Dinu;
Becker‐Heck, Anita;
Zariwala, Maimoona A.;
Schmidts, Miriam;
Onoufriadis, Alexandros;
Forouhan, Mitra;
Wilson, Robert;
Taylor‐Cox, Theresa;
Dewar, Ann;
Jackson, Claire;
Goggin, Patricia;
Loges, Niki T.;
Olbrich, Heike;
Jaspers, Martine;
Jorissen, Mark;
Leigh, Margaret W.;
Wolf, Whitney E.;
Daniels, M. Leigh Anne;
Noone, Peadar G.;
Ferkol, Thomas W.

Publication type:

Article

Delineation of the Clinical, Molecular and Cellular Aspects of Novel JAM 3 Mutations Underlying the Autosomal Recessive Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts.

Published in:

Human Mutation, 2013, v. 34, n. 3, p. 498, doi. 10.1002/humu.22263

By:

Akawi, Nadia A.;
Canpolat, Fuat E.;
White, Susan M.;
Quilis‐Esquerra, Josep;
Morales Sanchez, Martin;
Gamundi, Maria José;
Mochida, Ganeshwaran H.;
Walsh, Christopher A.;
Ali, Bassam R.;
Al‐Gazali, Lihadh

Publication type:

Article

Cancer Risks for MLH 1 and MSH 2 Mutation Carriers.

Published in:

Human Mutation, 2013, v. 34, n. 3, p. 490, doi. 10.1002/humu.22262

By:

Dowty, James G.;
Win, Aung K.;
Buchanan, Daniel D.;
Lindor, Noralane M.;
Macrae, Finlay A.;
Clendenning, Mark;
Antill, Yoland C.;
Thibodeau, Stephen N.;
Casey, Graham;
Gallinger, Steve;
Marchand, Loic Le;
Newcomb, Polly A.;
Haile, Robert W.;
Young, Graeme P.;
James, Paul A.;
Giles, Graham G.;
Gunawardena, Shanaka R.;
Leggett, Barbara A.;
Gattas, Michael;
Boussioutas, Alex

Publication type:

Article

Novel XPG ( ERCC5) Mutations Affect DNA Repair and Cell Survival after Ultraviolet but not Oxidative Stress.

Published in:

Human Mutation, 2013, v. 34, n. 3, p. 481, doi. 10.1002/humu.22259

By:

Soltys, Daniela T.;
Rocha, Clarissa R. R.;
Lerner, Letícia K.;
de Souza, Tiago A.;
Munford, Veridiana;
Cabral, Fernanda;
Nardo, Tiziana;
Stefanini, Miria;
Sarasin, Alain;
Cabral‐Neto, Januário B.;
Menck, Carlos F. M.

Publication type:

Article

An Overview and Update of ATP7A Mutations Leading to Menkes Disease and Occipital Horn Syndrome.

Published in:

Human Mutation, 2013, v. 34, n. 3, p. 417, doi. 10.1002/humu.22266

By:

Tümer, Zeynep

Publication type:

Article

Drastic Effect of Germline TP53 Missense Mutations in Li-Fraumeni Patients.

Published in:

Human Mutation, 2013, v. 34, n. 3, p. 453, doi. 10.1002/humu.22254

By:

Zerdoumi, Yasmine;
Aury‐Landas, Juliette;
Bonaïti‐Pellié, Catherine;
Derambure, Céline;
Sesboüé, Richard;
Renaux‐Petel, Mariette;
Frebourg, Thierry;
Bougeard, Gaëlle;
Flaman, Jean‐Michel

Publication type:

Article

Pseudohypoparathyroidism Type Ia and Pseudo-Pseudohypoparathyroidism: The Growing Spectrum of GNAS Inactivating Mutations.

Published in:

Human Mutation, 2013, v. 34, n. 3, p. 411, doi. 10.1002/humu.22265

By:

Elli, Francesca Marta;
deSanctis, Luisa;
Ceoloni, Barbara;
Barbieri, Anna Maria;
Bordogna, Paolo;
Beck‐Peccoz, Paolo;
Spada, Anna;
Mantovani, Giovanna

Publication type:

Article

Molecular Basis of Two-Exon Skipping (Exons 12 and 13) by c.1248+5g>a in OXCT1 Gene: Study on Intermediates of OXCT1 Transcripts in Fibroblasts.

Published in:

Human Mutation, 2013, v. 34, n. 3, p. 473, doi. 10.1002/humu.22258

By:

Hori, Tomohiro;
Fukao, Toshiyuki;
Murase, Keiko;
Sakaguchi, Naomi;
Harding, Cary O.;
Kondo, Naomi

Publication type:

Article

Comparative Analysis and Functional Mapping of SACS Mutations Reveal Novel Insights into Sacsin Repeated Architecture.

Published in:

Human Mutation, 2013, v. 34, n. 3, p. 525, doi. 10.1002/humu.22269

By:

Romano, Alessandro;
Tessa, Alessandra;
Barca, Amilcare;
Fattori, Fabiana;
Fulvia de Leva, Maria;
Terracciano, Alessandra;
Storelli, Carlo;
Santorelli, Filippo Maria;
Verri, Tiziano

Publication type:

Article