Works matching IS 10597794 AND DT 2014 AND VI 35 AND IP 12

Results: 21

Identification of Pathogenic Mechanisms of COCH Mutations, Abolished Cochlin Secretion, and Intracellular Aggregate Formation: Genotype-Phenotype Correlations in DFNA9 Deafness and Vestibular Disorder.

Published in:

Human Mutation, 2014, v. 35, n. 12, p. 1506, doi. 10.1002/humu.22701

By:

Bae, Seung‐Hyun;
Robertson, Nahid G.;
Cho, Hyun‐Ju;
Morton, Cynthia C.;
Jung, Da Jung;
Baek, Jeong‐In;
Choi, Soo‐Young;
Lee, Jaetae;
Lee, Kyu‐Yup;
Kim, Un‐Kyung

Publication type:

Article

Genetics and Pathogenesis of Autosomal Dominant Polycystic Kidney Disease: 20 Years On.

Published in:

Human Mutation, 2014, v. 35, n. 12, p. 1393, doi. 10.1002/humu.22708

By:

Cornec‐Le Gall, Emilie;
Audrézet, Marie‐Pierre;
Le Meur, Yannick;
Chen, Jian‐Min;
Férec, Claude

Publication type:

Article

Identification of Large NF1 Duplications Reciprocal to NAHR-Mediated Type-1 NF1 Deletions.

Published in:

Human Mutation, 2014, v. 35, n. 12, p. 1469, doi. 10.1002/humu.22692

By:

Kehrer‐Sawatzki, Hildegard;
Bengesser, Kathrin;
Callens, Tom;
Mikhail, Fady;
Fu, Chuanhua;
Hillmer, Morten;
Walker, Martha E.;
Saal, Howard M.;
Lacassie, Yves;
Cooper, David N.;
Messiaen, Ludwine

Publication type:

Article

High Frequency of RPL22 Mutations in Microsatellite-Unstable Colorectal and Endometrial Tumors.

Published in:

Human Mutation, 2014, v. 35, n. 12, p. 1442, doi. 10.1002/humu.22686

By:

Ferreira, Ana M.;
Tuominen, Iina;
Dijk‐Bos, Krista;
Sanjabi, Bahram;
Sluis, Tineke;
Zee, Ate G.;
Hollema, Harry;
Zazula, Monika;
Sijmons, Rolf H.;
Aaltonen, Lauri A.;
Westers, Helga;
Hofstra, Robert M.W.

Publication type:

Article

Mutation Update for UBE3 A Variants in Angelman Syndrome.

Published in:

Human Mutation, 2014, v. 35, n. 12, p. 1407, doi. 10.1002/humu.22687

By:

Sadikovic, Bekim;
Fernandes, Priscilla;
Zhang, Victor Wei;
Ward, Patricia A.;
Miloslavskaya, Irene;
Rhead, William;
Rosenbaum, Richard;
Gin, Robert;
Roa, Benjamin;
Fang, Ping

Publication type:

Article

A New Overgrowth Syndrome is due to Mutations in RNF125.

Published in:

Human Mutation, 2014, v. 35, n. 12, p. 1436, doi. 10.1002/humu.22689

By:

Tenorio, Jair;
Mansilla, Alicia;
Valencia, María;
Martínez‐Glez, Víctor;
Romanelli, Valeria;
Arias, Pedro;
Castrejón, Nerea;
Poletta, Fernando;
Guillén‐Navarro, Encarna;
Gordo, Gema;
Mansilla, Elena;
García‐Santiago, Fé;
González‐Casado, Isabel;
Vallespín, Elena;
Palomares, María;
Mori, María A.;
Santos‐Simarro, Fernando;
García‐Miñaur, Sixto;
Fernández, Luis;
Mena, Rocío

Publication type:

Article

Mutations in NTRK3 Suggest a Novel Signaling Pathway in Human Congenital Heart Disease.

Published in:

Human Mutation, 2014, v. 35, n. 12, p. 1459, doi. 10.1002/humu.22688

By:

Werner, Petra;
Paluru, Prasuna;
Simpson, Anisha M.;
Latney, Brande;
Iyer, Radhika;
Brodeur, Garrett M.;
Goldmuntz, Elizabeth

Publication type:

Article

New Target Genes in Endometrial Tumors Show a Role for the Estrogen-Receptor Pathway in Microsatellite-Unstable Cancers.

Published in:

Human Mutation, 2014, v. 35, n. 12, p. 1514, doi. 10.1002/humu.22700

By:

Ferreira, Ana M.;
Tuominen, Iina;
Sousa, Sónia;
Gerbens, Frans;
Dijk‐Bos, Krista;
Osinga, Jan;
Kooi, Krista A.;
Sanjabi, Bahram;
Esendam, Chris;
Oliveira, Carla;
Terpstra, Peter;
Hardonk, Menno;
Sluis, Tineke;
Zazula, Monika;
Stachura, Jerzy;
Zee, Ate G.;
Hollema, Harry;
Sijmons, Rolf H.;
Aaltonen, Lauri A.;
Seruca, Raquel

Publication type:

Article

Functional Characterization and Categorization of Missense Mutations that Cause Methylmalonyl- Co A Mutase ( MUT) Deficiency.

Published in:

Human Mutation, 2014, v. 35, n. 12, p. 1449, doi. 10.1002/humu.22633

By:

Forny, Patrick;
Froese, D. Sean;
Suormala, Terttu;
Yue, Wyatt W.;
Baumgartner, Matthias R.

Publication type:

Article

Contents.

Published in:: 2014
Publication type:: Other

The Fragile X Mouse is Cured, Now for the Patients.

Published in:

2014

By:

Hagerman, Randi J.

Publication type:

Other

A Genetic Variant in the Seed Region of mi R-4513 Shows Pleiotropic Effects on Lipid and Glucose Homeostasis, Blood Pressure, and Coronary Artery Disease.

Published in:

Human Mutation, 2014, v. 35, n. 12, p. 1524, doi. 10.1002/humu.22706

By:

Ghanbari, Mohsen;
de Vries, Paul S.;
de Looper, Hans;
Peters, Marjolein J.;
Schurmann, Claudia;
Yaghootkar, Hanieh;
Dörr, Marcus;
Frayling, Timothy M.;
Uitterlinden, Andre G.;
Hofman, Albert;
van Meurs, Joyce B. J.;
Erkeland, Stefan J.;
Franco, Oscar H.;
Dehghan, Abbas

Publication type:

Article

Nonsense Mutation in Coiled-Coil Domain Containing 151 Gene ( CCDC151) Causes Primary Ciliary Dyskinesia.

Published in:

Human Mutation, 2014, v. 35, n. 12, p. 1446, doi. 10.1002/humu.22698

By:

Alsaadi, Muslim M.;
Erzurumluoglu, A. Mesut;
Rodriguez, Santiago;
Guthrie, Philip A. I.;
Gaunt, Tom R.;
Omar, Hager Z.;
Mubarak, Mohammad;
Alharbi, Khalid K.;
Al‐Rikabi, Ammar C.;
Day, Ian N. M.

Publication type:

Article

Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.

Published in:

Human Mutation, 2014, v. 35, n. 12, p. 1542, doi. 10.1002/humu.22722

By:

Morin, Gilles;
Bruechle, Nadina Ortiz;
Singh, Amrathlal Rabbind;
Knopp, Cordula;
Jedraszak, Guillaume;
Elbracht, Miriam;
Brémond‐Gignac, Dominique;
Hartmann, Kathi;
Sevestre, Henri;
Deutz, Peter;
Hérent, Didier;
Nürnberg, Peter;
Roméo, Bernard;
Konrad, Kerstin;
Mathieu‐Dramard, Michèle;
Oldenburg, Johannes;
Bourges‐Petit, Elisabeth;
Shen, Yuequan;
Zerres, Klaus;
Ouadid‐Ahidouch, Halima

Publication type:

Article

Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies.

Published in:

Human Mutation, 2014, v. 35, n. 12, p. 1418, doi. 10.1002/humu.22693

By:

Lehtokari, Vilma‐Lotta;
Kiiski, Kirsi;
Sandaradura, Sarah A.;
Laporte, Jocelyn;
Repo, Pauliina;
Frey, Jennifer A.;
Donner, Kati;
Marttila, Minttu;
Saunders, Carol;
Barth, Peter G.;
den Dunnen, Johan T.;
Beggs, Alan H.;
Clarke, Nigel F.;
North, Kathryn N.;
Laing, Nigel G.;
Romero, Norma B.;
Winder, Thomas L.;
Pelin, Katarina;
Wallgren‐Pettersson, Carina

Publication type:

Article

Capture of Somatic mt DNA Point Mutations with Severe Effects on Oxidative Phosphorylation in Synaptosome Cybrid Clones from Human Brain.

Published in:

Human Mutation, 2014, v. 35, n. 12, p. 1476, doi. 10.1002/humu.22694

By:

McKenzie, Matthew;
Chiotis, Maria;
Hroudová, Jana;
Lopez Sanchez, Maria I.G.;
Lim, Sze Chern;
Cook, Mark J.;
McKelvie, Penny;
Cotton, Richard G. H.;
Murphy, Michael;
St John, Justin C.;
Trounce, Ian A.

Publication type:

Article

Integrated Sequence Analysis Pipeline Provides One-Stop Solution for Identifying Disease-Causing Mutations.

Published in:

Human Mutation, 2014, v. 35, n. 12, p. 1427, doi. 10.1002/humu.22695

By:

Hu, Hao;
Wienker, Thomas F.;
Musante, Luciana;
Kalscheuer, Vera M.;
Kahrizi, Kimia;
Najmabadi, Hossein;
Ropers, H. Hilger

Publication type:

Article

Altered GPM6A/M6 Dosage Impairs Cognition and Causes Phenotypes Responsive to Cholesterol in Human and Drosophila.

Published in:

Human Mutation, 2014, v. 35, n. 12, p. 1495, doi. 10.1002/humu.22697

By:

Gregor, Anne;
Kramer, Jamie M.;
Voet, Monique;
Schanze, Ina;
Uebe, Steffen;
Donders, Rogier;
Reis, André;
Schenck, Annette;
Zweier, Christiane

Publication type:

Article

Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene.

Published in:

Human Mutation, 2014, v. 35, n. 12, p. 1532, doi. 10.1002/humu.22710

By:

Kergourlay, Virginie;
Raï, Ghadi;
Blandin, Gaëlle;
Salgado, David;
Béroud, Christophe;
Lévy, Nicolas;
Krahn, Martin;
Bartoli, Marc

Publication type:

Article

Cholesterol and Cognition: A Question of Balance?

Published in:

2014

By:

Sobrido, María‐Jesús

Publication type:

Other

Identification of Fragile X Syndrome Specific Molecular Markers in Human Fibroblasts: A Useful Model to Test the Efficacy of Therapeutic Drugs.

Published in:

Human Mutation, 2014, v. 35, n. 12, p. 1485, doi. 10.1002/humu.22699

By:

Kumari, Daman;
Bhattacharya, Aditi;
Nadel, Jeffrey;
Moulton, Kristen;
Zeak, Nicole M.;
Glicksman, Anne;
Dobkin, Carl;
Brick, David J.;
Schwartz, Philip H.;
Smith, Carolyn B.;
Klann, Eric;
Usdin, Karen

Publication type:

Article