Works matching IS 10597794 AND DT 2013 AND VI 34 AND IP 11

Results: 19

Hypomorphic NOTCH3 Alleles Do Not Cause CADASIL in Humans.

Published in:

Human Mutation, 2013, v. 34, n. 11, p. 1486, doi. 10.1002/humu.22432

By:

Rutten, Julie W.;
Boon, Elles M.J.;
Liem, Michael K.;
Dauwerse, Johannes G.;
Pont, Margot J.;
Vollebregt, Ellen;
Maat-Kievit, Anneke J.;
Ginjaar, Hendrika B.;
Lakeman, Phillis;
Duinen, Sjoerd G.;
Terwindt, Gisela M.;
Lesnik Oberstein, Saskia A.J.

Publication type:

Article

Position of Glycine Substitutions in the Triple Helix of COL6 A1, COL6 A2, and COL6 A3 is Correlated with Severity and Mode of Inheritance in Collagen VI Myopathies.

Published in:

Human Mutation, 2013, v. 34, n. 11, p. 1558, doi. 10.1002/humu.22429

By:

Butterfield, Russell J.;
Foley, A. Reghan;
Dastgir, Jahannaz;
Asman, Stephanie;
Dunn, Diane M.;
Zou, Yaqun;
Hu, Ying;
Donkervoort, Sandra;
Flanigan, Kevin M.;
Swoboda, Kathryn J.;
Winder, Thomas L.;
Weiss, Robert B.;
Bönnemann, Carsten G.

Publication type:

Article

Novel FOXF1 Deep Intronic Deletion Causes Lethal Lung Developmental Disorder, Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.

Published in:

Human Mutation, 2013, v. 34, n. 11, p. 1467, doi. 10.1002/humu.22395

By:

Szafranski, Przemyslaw;
Yang, Yaping;
Nelson, Melissa U.;
Bizzarro, Matthew J.;
Morotti, Raffaella A.;
Langston, Claire;
Stankiewicz, Paweł

Publication type:

Article

In Vitro Secretion Deficits are Common Among Human Coagulation Factor XIII Subunit B Missense Mutants: Correlations with Patient Phenotypes and Molecular Models.

Published in:

Human Mutation, 2013, v. 34, n. 11, p. 1490, doi. 10.1002/humu.22391

By:

Biswas, Arijit;
Thomas, Anne;
Bevans, Carville G.;
Ivaskevicius, Vytautas;
Oldenburg, Johannes

Publication type:

Article

Functional Analysis of a Large set of BRCA2 exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements.

Published in:

Human Mutation, 2013, v. 34, n. 11, p. 1547, doi. 10.1002/humu.22428

By:

Di Giacomo, Daniela;
Gaildrat, Pascaline;
Abuli, Anna;
Abdat, Julie;
Frébourg, Thierry;
Tosi, Mario;
Martins, Alexandra

Publication type:

Article

Best Practices for Evaluating Mutation Prediction Methods.

Published in:

Human Mutation, 2013, v. 34, n. 11, p. 1581, doi. 10.1002/humu.22401

By:

Rogan, Peter K.;
Zou, Guang Yong

Publication type:

Article

Sensitive Detection of KRAS Mutations Using Enhanced- ice- COLD- PCR Mutation Enrichment and Direct Sequence Identification.

Published in:

Human Mutation, 2013, v. 34, n. 11, p. 1568, doi. 10.1002/humu.22427

By:

How Kit, Alexandre;
Mazaleyrat, Nicolas;
Daunay, Antoine;
Nielsen, Helene Myrtue;
Terris, Benoît;
Tost, Jörg

Publication type:

Article

Mutation in TTI2 Reveals a Role for Triple T Complex in Human Brain Development.

Published in:

Human Mutation, 2013, v. 34, n. 11, p. 1472, doi. 10.1002/humu.22399

By:

Langouët, Maéva;
Saadi, Abdelkrim;
Rieunier, Guillaume;
Moutton, Sébastien;
Siquier-Pernet, Karine;
Fernet, Marie;
Nitschke, Patrick;
Munnich, Arnold;
Stern, Marc-Henri;
Chaouch, Malika;
Colleaux, Laurence

Publication type:

Article

The TREAT- NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia.

Published in:

Human Mutation, 2013, v. 34, n. 11, p. 1449, doi. 10.1002/humu.22390

By:

Bladen, Catherine L.;
Rafferty, Karen;
Straub, Volker;
Monges, Soledad;
Moresco, Angélica;
Dawkins, Hugh;
Roy, Anna;
Chamova, Teodora;
Guergueltcheva, Velina;
Korngut, Lawrence;
Campbell, Craig;
Dai, Yi;
Barišić, Nina;
Kos, Tea;
Brabec, Petr;
Rahbek, Jes;
Lahdetie, Jaana;
Tuffery-Giraud, Sylvie;
Claustres, Mireille;
Leturcq, France

Publication type:

Article

Coffin- Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients.

Published in:

Human Mutation, 2013, v. 34, n. 11, p. 1519, doi. 10.1002/humu.22394

By:

Santen, Gijs W.E.;
Aten, Emmelien;
Vulto-van Silfhout, Anneke T.;
Pottinger, Caroline;
Bon, Bregje W.M.;
Minderhout, Ivonne J.H.M.;
Snowdowne, Ronelle;
Lans, Christian A.C.;
Boogaard, Merel;
Linssen, Margot M.L.;
Vijfhuizen, Linda;
Wielen, Michiel J.R.;
Vollebregt, M.J. (Ellen);
Breuning, Martijn H.;
Kriek, Marjolein;
Haeringen, Arie;
den Dunnen, Johan T.;
Hoischen, Alexander;
Clayton-Smith, Jill;
Vries, Bert B.A.

Publication type:

Article

Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations.

Published in:

Human Mutation, 2013, v. 34, n. 11, p. 1537, doi. 10.1002/humu.22398

By:

Mackay, Donna S.;
Borman, Arundhati Dev;
Sui, Ruifang;
Born, L. Ingeborgh;
Berson, Eliot L.;
Ocaka, Louise A.;
Davidson, Alice E.;
Heckenlively, John R.;
Branham, Kari;
Ren, Huanan;
Lopez, Irma;
Maria, Maleeha;
Azam, Maleeha;
Henkes, Arjen;
Blokland, Ellen;
Andreasson, Sten;
Baere, Elfride;
Bennett, Jean;
Chader, Gerald J.;
Berger, Wolfgang

Publication type:

Article

MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast.

Published in:

Human Mutation, 2013, v. 34, n. 11, p. 1501, doi. 10.1002/humu.22393

By:

Baruffini, Enrico;
Dallabona, Cristina;
Invernizzi, Federica;
Yarham, John W.;
Melchionda, Laura;
Blakely, Emma L.;
Lamantea, Eleonora;
Donnini, Claudia;
Santra, Saikat;
Vijayaraghavan, Suresh;
Roper, Helen P.;
Burlina, Alberto;
Kopajtich, Robert;
Walther, Anett;
Strom, Tim M.;
Haack, Tobias B.;
Prokisch, Holger;
Taylor, Robert W.;
Ferrero, Ileana;
Zeviani, Massimo

Publication type:

Article

Telomere Phenotypes in Females with Heterozygous Mutations in the Dyskeratosis Congenita 1 ( DKC1) Gene.

Published in:

Human Mutation, 2013, v. 34, n. 11, p. 1481, doi. 10.1002/humu.22397

By:

Alder, Jonathan K.;
Parry, Erin M.;
Yegnasubramanian, Srinivasan;
Wagner, Christa L.;
Lieblich, Lawrence M.;
Auerbach, Robert;
Auerbach, Arleen D.;
Wheelan, Sarah J.;
Armanios, Mary

Publication type:

Article

Clinical Applications of Next-Generation Sequencing: The 2013 Human Genome Variation Society Scientific Meeting.

Published in:

Human Mutation, 2013, v. 34, n. 11, p. 1583, doi. 10.1002/humu.22400

By:

Ellard, Sian;
Patrinos, George P.;
Oetting, William S.

Publication type:

Article

NF1 Molecular Characterization and Neurofibromatosis Type I Genotype-Phenotype Correlation: The French Experience.

Published in:

Human Mutation, 2013, v. 34, n. 11, p. 1510, doi. 10.1002/humu.22392

By:

Sabbagh, Audrey;
Pasmant, Eric;
Imbard, Apolline;
Luscan, Armelle;
Soares, Magali;
Blanché, Hélène;
Laurendeau, Ingrid;
Ferkal, Salah;
Vidaud, Michel;
Pinson, Stéphane;
Bellanné-Chantelot, Christine;
Vidaud, Dominique;
Parfait, Béatrice;
Wolkenstein, Pierre

Publication type:

Article

Inactivation of DNA Mismatch Repair by Variants of Uncertain Significance in the PMS2 Gene.

Published in:

Human Mutation, 2013, v. 34, n. 11, p. 1477, doi. 10.1002/humu.22426

By:

Drost, Mark;
Koppejan, Hester;
Wind, Niels

Publication type:

Article

Ferroportin Diseases: Functional Studies, a Link Between Genetic and Clinical Phenotype.

Published in:

Human Mutation, 2013, v. 34, n. 11, p. 1529, doi. 10.1002/humu.22396

By:

Détivaud, Lénaïck;
Island, Marie-Laure;
Jouanolle, Anne-Marie;
Ropert, Martine;
Bardou-Jacquet, Edouard;
Le Lan, Caroline;
Mosser, Annick;
Leroyer, Patricia;
Deugnier, Yves;
David, Véronique;
Brissot, Pierre;
Loréal, Olivier

Publication type:

Article

The Finnish Disease Heritage Database ( Fin Dis) Update-A Database for the Genes Mutated in the Finnish Disease Heritage Brought to the Next-Generation Sequencing Era.

Published in:

Human Mutation, 2013, v. 34, n. 11, p. 1458, doi. 10.1002/humu.22389

By:

Polvi, Anne;
Linturi, Henna;
Varilo, Teppo;
Anttonen, Anna-Kaisa;
Byrne, Myles;
Fokkema, Ivo F.A.C.;
Almusa, Henrikki;
Metzidis, Anthony;
Avela, Kristiina;
Aula, Pertti;
Kestilä, Marjo;
Muilu, Juha

Publication type:

Article

Loss-of-function Mutation in the NOTCH3 Gene: Simply a Polymorphism?

Published in:

Human Mutation, 2013, v. 34, n. 11, p. v, doi. 10.1002/humu.22198

By:

Joutel, Anne

Publication type:

Article