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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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