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

Results: 21

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
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
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
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
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
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
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
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
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
Contents.
Published in:
2014
Publication type:
Other
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
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
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
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
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
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
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
The Fragile X Mouse is Cured, Now for the Patients.
Published in:
2014
By:
- Hagerman, Randi J.
Publication type:
Other