Works matching IS 10597794 AND DT 2014 AND VI 35 AND IP 4

Results: 18

Prediction of the Repeat Domain Structures and Impact of Parkinsonism-Associated Variations on Structure and Function of all Functional Domains of Leucine-Rich Repeat Kinase 2 ( LRRK2).

Published in:

Human Mutation, 2014, v. 35, n. 4, p. 395, doi. 10.1002/humu.22515

By:

Mills, Ryan D.;
Mulhern, Terrence D.;
Liu, Fei;
Culvenor, Janetta G.;
Cheng, Heung‐Chin

Publication type:

Article

Contribution of SUN1 Mutations to the Pathomechanism in Muscular Dystrophies.

Published in:

Human Mutation, 2014, v. 35, n. 4, p. 452, doi. 10.1002/humu.22504

By:

Li, Ping;
Meinke, Peter;
Huong, Le Thi Thanh;
Wehnert, Manfred;
Noegel, Angelika A.

Publication type:

Article

Molecular Characterization and Cancer Risk Associated with BRCA1 and BRCA2 Splice Site Variants Identified in Multiple-Case Breast Cancer Families.

Published in:

Human Mutation, 2014, v. 35, n. 4, p. 511, doi. 10.1002/humu.22526

By:

Tesoriero, A. A.;
Wong, E. M.;
Jenkins, M. A.;
Hopper, J. L.;
Brown, M. A.;
Chenevix‐Trench, G.;
Spurdle, A. B.;
Southey, M. C.

Publication type:

Article

Integrating Massively Parallel Sequencing into Diagnostic Workflows and Managing the Annotation and Clinical Interpretation Challenge.

Published in:

Human Mutation, 2014, v. 35, n. 4, p. 413, doi. 10.1002/humu.22525

By:

Kassahn, Karin S.;
Scott, Hamish S.;
Caramins, Melody C.

Publication type:

Article

Primary Immunodeficiency Caused by an Exonized Retroposed Gene Copy Inserted in the CYBB Gene.

Published in:

Human Mutation, 2014, v. 35, n. 4, p. 486, doi. 10.1002/humu.22519

By:

Boer, Martin;
Leeuwen, Karin;
Geissler, Judy;
Weemaes, Corry M.;
Berg, Timo K.;
Kuijpers, Taco W.;
Warris, Adilia;
Roos, Dirk

Publication type:

Article

Clinically Relevant Variants - Identifying, Collecting, Interpreting, and Disseminating: The 2013 Annual Scientific Meeting of the Human Genome Variation Society.

Published in:

Human Mutation, 2014, v. 35, n. 4, p. 505, doi. 10.1002/humu.22516

By:

Stanley, Christine M.;
Sunyaev, Shamil R.;
Greenblatt, Marc S.;
Oetting, William S.

Publication type:

Article

A Recurrent Loss-of-Function Alanyl-tRNA Synthetase ( AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N).

Published in:

Human Mutation, 2014, v. 35, n. 4, p. 512, doi. 10.1002/humu.22527

By:

McLaughlin, Heather M.;
Sakaguchi, Reiko;
Giblin, William;
Wilson, Thomas E.;
Biesecker, Leslie;
Lupski, James R.;
Talbot, Kevin;
Vance, Jeffery M.;
Züchner, Stephan;
Lee, Yi‐Chung;
Kennerson, Marina;
Hou, Ya‐Ming;
Nicholson, Garth;
Antonellis, Anthony

Publication type:

Article

Contents.

Published in:: 2014
Publication type:: Other

Functional Mutation Analysis Provides Evidence for a Role of REEP1 in Lipid Droplet Biology.

Published in:

Human Mutation, 2014, v. 35, n. 4, p. 497, doi. 10.1002/humu.22521

By:

Falk, Julia;
Rohde, Magdalena;
Bekhite, Mohamed M.;
Neugebauer, Sophie;
Hemmerich, Peter;
Kiehntopf, Michael;
Deufel, Thomas;
Hübner, Christian A.;
Beetz, Christian

Publication type:

Article

The Challenge of Genomic Medicine.

Published in:

2014

By:

Chao, Elizabeth C.

Publication type:

Other

TBC1 D7 Mutations are Associated with Intellectual Disability, Macrocrania, Patellar Dislocation, and Celiac Disease.

Published in:

Human Mutation, 2014, v. 35, n. 4, p. 447, doi. 10.1002/humu.22529

By:

Alfaiz, Ali Abdullah;
Micale, Lucia;
Mandriani, Barbara;
Augello, Bartolomeo;
Pellico, Maria Teresa;
Chrast, Jacqueline;
Xenarios, Ioannis;
Zelante, Leopoldo;
Merla, Giuseppe;
Reymond, Alexandre

Publication type:

Article

New Clues to the Relationship Between Endoplasmic Reticulum, Lipid Metabolism and Axonopathies.

Published in:

2014

By:

Sobrido, María‐Jesús

Publication type:

Other

Two Novel Mutations in the BCKDK (Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients.

Published in:

Human Mutation, 2014, v. 35, n. 4, p. 470, doi. 10.1002/humu.22513

By:

García‐Cazorla, Angels;
Oyarzabal, Alfonso;
Fort, Joana;
Robles, Concepción;
Castejón, Esperanza;
Ruiz‐Sala, Pedro;
Bodoy, Susanna;
Merinero, Begoña;
Lopez‐Sala, Anna;
Dopazo, Joaquín;
Nunes, Virginia;
Ugarte, Magdalena;
Artuch, Rafael;
Palacín, Manuel;
Rodríguez‐Pombo, Pilar;
Alcaide, Patricia;
Navarrete, Rosa;
Sanz, Paloma;
Font‐Llitjós, Mariona;
Vilaseca, Ma Antonia

Publication type:

Article

Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface.

Published in:

Human Mutation, 2014, v. 35, n. 4, p. 434, doi. 10.1002/humu.22490

By:

Watson, Christopher M.;
Crinnion, Laura A.;
Morgan, Joanne E.;
Harrison, Sally M.;
Diggle, Christine P.;
Adlard, Julian;
Lindsay, Helen A.;
Camm, Nick;
Charlton, Ruth;
Sheridan, Eamonn;
Bonthron, David T.;
Taylor, Graham R.;
Carr, Ian M.

Publication type:

Article

A Novel Splice Site Mutation in the Noncoding Region of BRCA2: Implications for Fanconi Anemia and Familial Breast Cancer Diagnostics.

Published in:

Human Mutation, 2014, v. 35, n. 4, p. 442, doi. 10.1002/humu.22505

By:

Bakker, Janine L.;
Thirthagiri, Eswary;
Mil, Saskia E.;
Adank, Muriel A.;
Ikeda, Hideyuki;
Verheul, Henk M. W.;
Meijers‐Heijboer, Hanne;
Winter, Johan P.;
Sharan, Shyam K.;
Waisfisz, Quinten

Publication type:

Article

Delineation of EFTUD2 Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients.

Published in:

Human Mutation, 2014, v. 35, n. 4, p. 478, doi. 10.1002/humu.22517

By:

Lehalle, Daphné;
Gordon, Christopher T.;
Oufadem, Myriam;
Goudefroye, Géraldine;
Boutaud, Lucile;
Alessandri, Jean‐Luc;
Baena, Neus;
Baujat, Geneviève;
Baumann, Clarisse;
Boute‐Benejean, Odile;
Caumes, Roseline;
Decaestecker, Charles;
Gaillard, Dominique;
Goldenberg, Alice;
Gonzales, Marie;
Holder‐Espinasse, Muriel;
Jacquemont, Marie‐Line;
Lacombe, Didier;
Manouvrier‐Hanu, Sylvie;
Marlin, Sandrine

Publication type:

Article

Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene.

Published in:

Human Mutation, 2014, v. 35, n. 4, p. 462, doi. 10.1002/humu.22511

By:

Mercimek‐Mahmutoglu, Saadet;
Ndika, Joseph;
Kanhai, Warsha;
Villemeur, Thierry Billette;
Cheillan, David;
Christensen, Ernst;
Dorison, Nathalie;
Hannig, Vickie;
Hendriks, Yvonne;
Hofstede, Floris C.;
Lion‐Francois, Laurence;
Lund, Allan M.;
Mundy, Helen;
Pitelet, Gaele;
Raspall‐Chaure, Miquel;
Scott‐Schwoerer, Jessica A.;
Szakszon, Katalin;
Valayannopoulos, Vassili;
Williams, Monique;
Salomons, Gajja S.

Publication type:

Article

Expanding the Mutational Spectrum of CRLF1 in Crisponi/ CISS1 Syndrome.

Published in:

Human Mutation, 2014, v. 35, n. 4, p. 424, doi. 10.1002/humu.22522

By:

Piras, Roberta;
Chiappe, Francesca;
Torraca, Ilaria La;
Buers, Insa;
Usala, Gianluca;
Angius, Andrea;
Akin, Mustafa Ali;
Basel‐Vanagaite, Lina;
Benedicenti, Francesco;
Chiodin, Elisabetta;
El Assy, Osama;
Feingold‐Zadok, Michal;
Guibert, Javier;
Kamien, Benjamin;
Kasapkara, Çiğdem Seher;
Kılıç, Esra;
Boduroğlu, Koray;
Kurtoglu, Selim;
Manzur, Adnan Y;
Onal, Eray Esra

Publication type:

Article