Works matching IS 10597794 AND DT 2013 AND VI 34 AND IP 2

Results: 22

Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex.

Published in:

Human Mutation, 2013, v. 34, n. 2, p. 409, doi. 10.1002/humu.22256

By:

Hoogeveen‐Westerveld, Marianne;
Ekong, Rosemary;
Povey, Sue;
Mayer, Karin;
Lannoy, Nathalie;
Elmslie, Frances;
Bebin, Martina;
Dies, Kira;
Thompson, Catherine;
Sparagana, Steven P.;
Davies, Peter;
van Eeghen, Agnies M.;
Thiele, Elizabeth A.;
van den Ouweland, Ans;
Halley, Dicky;
Nellist, Mark

Publication type:

Article

Primary Microcephaly, Impaired DNA Replication, and Genomic Instability Caused by Compound Heterozygous ATR Mutations.

Published in:

Human Mutation, 2013, v. 34, n. 2, p. 374, doi. 10.1002/humu.22245

By:

Mokrani‐Benhelli, Houda;
Gaillard, Laetitia;
Biasutto, Patricia;
Le Guen, Tangui;
Touzot, Fabien;
Vasquez, Nadia;
Komatsu, Jun;
Conseiller, Emmanuel;
Pïcard, Capucine;
Gluckman, Eliane;
Francannet, Christine;
Fischer, Alain;
Durandy, Anne;
Soulier, Jean;
de Villartay, Jean‐Pierre;
Cavazzana‐Calvo, Marina;
Revy, Patrick

Publication type:

Article

MT-ND5 Mutation Causing Exercise Intolerance Displays Intercellular Heteroplasmy and Rapid Shifts Between Generations.

Published in:

Human Mutation, 2013, v. 34, n. 2, p. 292, doi. 10.1002/humu.22238

By:

Sanaker, Petter Schandl;
Bindoff, Laurence A.

Publication type:

Article

Functional Characterization of Novel Mutations Affecting Survivin ( BIRC5)-Mediated Therapy Resistance in Head and Neck Cancer Patients.

Published in:

Human Mutation, 2013, v. 34, n. 2, p. 395, doi. 10.1002/humu.22249

By:

Knauer, Shirley K.;
Unruhe, Britta;
Karczewski, Sarah;
Hecht, Rouven;
Fetz, Verena;
Bier, Carolin;
Friedl, Sandra;
Wollenberg, Barbara;
Pries, Ralph;
Habtemichael, Negusse;
Heinrich, Ulf‐Rüdiger;
Stauber, Roland H.

Publication type:

Article

The UBIAD1 Prenyltransferase Links Menaquione-4 Synthesis to Cholesterol Metabolic Enzymes.

Published in:

Human Mutation, 2013, v. 34, n. 2, p. 317, doi. 10.1002/humu.22230

By:

Nickerson, Michael L.;
Bosley, Allen D.;
Weiss, Jayne S.;
Kostiha, Brittany N.;
Hirota, Yoshihisa;
Brandt, Wolfgang;
Esposito, Dominic;
Kinoshita, Shigeru;
Wessjohann, Ludger;
Morham, Scott G.;
Andresson, Thorkell;
Kruth, Howard S.;
Okano, Toshio;
Dean, Michael

Publication type:

Article

Kohlschütter-Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity.

Published in:

Human Mutation, 2013, v. 34, n. 2, p. 296, doi. 10.1002/humu.22241

By:

Tucci, Arianna;
Kara, Eleanna;
Schossig, Anna;
Wolf, Nicole I.;
Plagnol, Vincent;
Fawcett, Katherine;
Paisán‐Ruiz, Coro;
Moore, Matthew;
Hernandez, Dena;
Musumeci, Sebastiano;
Tennison, Michael;
Hennekam, Raoul;
Palmeri, Silvia;
Malandrini, Alessandro;
Raskin, Salmo;
Donnai, Dian;
Hennig, Corina;
Tzschach, Andreas;
Hordijk, Roel;
Bast, Thomas

Publication type:

Article

Modeling Tumor Progression by the Sequential Introduction of Genetic Alterations into the Genome of Human Normal Cells.

Published in:

Human Mutation, 2013, v. 34, n. 2, p. 330, doi. 10.1002/humu.22234

By:

Zecchin, Davide;
Arena, Sabrina;
Martini, Miriam;
Sassi, Francesco;
Pisacane, Alberto;
Di Nicolantonio, Federica;
Bardelli, Alberto

Publication type:

Article

Mechanisms of Formation of Structural Variation in a Fully Sequenced Human Genome.

Published in:

Human Mutation, 2013, v. 34, n. 2, p. 345, doi. 10.1002/humu.22240

By:

Pang, Andy Wing Chun;
Migita, Ohsuke;
MacDonald, Jeffrey R.;
Feuk, Lars;
Scherer, Stephen W.

Publication type:

Article

A Pan- European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats.

Published in:

Human Mutation, 2013, v. 34, n. 2, p. 363, doi. 10.1002/humu.22244

By:

van der Zee, Julie;
Gijselinck, Ilse;
Dillen, Lubina;
Van Langenhove, Tim;
Theuns, Jessie;
Engelborghs, Sebastiaan;
Philtjens, Stéphanie;
Vandenbulcke, Mathieu;
Sleegers, Kristel;
Sieben, Anne;
Bäumer, Veerle;
Maes, Githa;
Corsmit, Ellen;
Borroni, Barbara;
Padovani, Alessandro;
Archetti, Silvana;
Perneczky, Robert;
Diehl‐Schmid, Janine;
de Mendonça, Alexandre;
Miltenberger‐Miltenyi, Gabriel

Publication type:

Article

Jagged1 ( JAG1) Mutations in Alagille Syndrome: Increasing the Mutation Detection Rate.

Published in:

Human Mutation, 2013, v. 34, n. 2, p. 408, doi. 10.1002/humu.22255

By:

Warthen, D. M.;
Moore, E. C.;
Kamath, B. M.;
Morrissette, J. J. D.;
Sanchez‐Lara, P. A.;
Piccoli, D. A.;
Krantz, I. D.;
Spinner, N. B.

Publication type:

Article

Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency.

Published in:

Human Mutation, 2013, v. 34, n. 2, p. 385, doi. 10.1002/humu.22248

By:

Berryer, Martin H.;
Hamdan, Fadi F.;
Klitten, Laura L.;
Møller, Rikke S.;
Carmant, Lionel;
Schwartzentruber, Jeremy;
Patry, Lysanne;
Dobrzeniecka, Sylvia;
Rochefort, Daniel;
Neugnot‐Cerioli, Mathilde;
Lacaille, Jean‐Claude;
Niu, Zhiyv;
Eng, Christine M.;
Yang, Yaping;
Palardy, Sylvain;
Belhumeur, Céline;
Rouleau, Guy A.;
Tommerup, Niels;
Immken, LaDonna;
Beauchamp, Miriam H.

Publication type:

Article

Response to: Statistical Analysis of Missense Mutation Classifiers.

Published in:

Human Mutation, 2013, v. 34, n. 2, p. 407, doi. 10.1002/humu.22250

By:

Acharya, Vishal;
Nagarajaram, Hampapathalu A.

Publication type:

Article

A Novel RAB33B Mutation in Smith- Mc Cort Dysplasia.

Published in:

Human Mutation, 2013, v. 34, n. 2, p. 283, doi. 10.1002/humu.22235

By:

Dupuis, Nina;
Lebon, Sophie;
Kumar, Manoj;
Drunat, Séverine;
Graul‐Neumann, Luitgard M.;
Gressens, Pierre;
El Ghouzzi, Vincent

Publication type:

Article

Statistical Analysis of Missense Mutation Classifiers.

Published in:

Human Mutation, 2013, v. 34, n. 2, p. 405, doi. 10.1002/humu.22243

By:

Hicks, Stephanie;
Plon, Sharon E.;
Kimmel, Marek

Publication type:

Article

Alternative Splicing of In-Frame Exon Associated with Premature Termination Codons: Implications for Readthrough Therapies.

Published in:

Human Mutation, 2013, v. 34, n. 2, p. 287, doi. 10.1002/humu.22236

By:

Hinzpeter, Alexandre;
Aissat, Abdel;
de Becdelièvre, Alix;
Bieth, Eric;
Sondo, Elvira;
Martin, Natacha;
Costes, Bruno;
Costa, Catherine;
Goossens, Michel;
Galietta, Luis J.V.;
Girodon, Emmanuelle;
Fanen, Pascale

Publication type:

Article

The CDC Hemophilia A Mutation Project (CHAMP) Mutation List: A New Online Resource.

Published in:

Human Mutation, 2013, v. 34, n. 2, p. E2382, doi. 10.1002/humu.22247

By:

Payne, Amanda B.;
Miller, Connie H.;
Kelly, Fiona M.;
Michael Soucie, J.;
Craig Hooper, W.

Publication type:

Article

Unilateral Cryptorchidism in Mice Mutant for Ptgds.

Published in:

Human Mutation, 2013, v. 34, n. 2, p. 278, doi. 10.1002/humu.22231

By:

Philibert, Pascal;
Boizet‐Bonhoure, Brigitte;
Bashamboo, Anu;
Paris, Françoise;
Aritake, Kosuke;
Urade, Yoshihiro;
Leger, Juliane;
Sultan, Charles;
Poulat, Francis

Publication type:

Article

Destabilization and Mislocalization of POU3 F4 by C-Terminal Frameshift Truncation and Extension Mutation.

Published in:

Human Mutation, 2013, v. 34, n. 2, p. 309, doi. 10.1002/humu.22232

By:

Choi, Byung Yoon;
Kim, Do‐Hwan;
Chung, Taesu;
Chang, Mi;
Kim, Eun‐Hye;
Kim, Ah Reum;
Seok, Jungirl;
Chang, Sun O;
Bok, Jinwoong;
Kim, Dongsup;
Oh, Seung‐Ha;
Park, Woong‐Yang

Publication type:

Article

A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in the PPM 1 K Gene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease.

Published in:

Human Mutation, 2013, v. 34, n. 2, p. 355, doi. 10.1002/humu.22242

By:

Oyarzabal, Alfonso;
Martínez‐Pardo, Mercedes;
Merinero, Begoña;
Navarrete, Rosa;
Desviat, Lourdes R;
Ugarte, Magdalena;
Rodríguez‐Pombo, Pilar

Publication type:

Article

Guidelines for Reporting and Using Prediction Tools for Genetic Variation Analysis.

Published in:

Human Mutation, 2013, v. 34, n. 2, p. 275, doi. 10.1002/humu.22253

By:

Vihinen, Mauno

Publication type:

Article

Mutations in NLRP7 and KHDC3 L Confer a Complete Hydatidiform Mole Phenotype on Digynic Triploid Conceptions.

Published in:

Human Mutation, 2013, v. 34, n. 2, p. 301, doi. 10.1002/humu.22228

By:

Fallahian, Masoumeh;
Sebire, Neil J.;
Savage, Philip M.;
Seckl, Michael J.;
Fisher, Rosemary A.

Publication type:

Article

Genome-Wide Analysis of Human SNPs at Long Intergenic Noncoding RNAs.

Published in:

Human Mutation, 2013, v. 34, n. 2, p. 338, doi. 10.1002/humu.22239

By:

Chen, Geng;
Qiu, Chengxiang;
Zhang, Qipeng;
Liu, Bing;
Cui, Qinghua

Publication type:

Article