Works matching IS 10597794 AND DT 2014 AND VI 35 AND IP 11

Results: 15

Type I Procollagen C-Propeptide Defects: Study of Genotype-Phenotype Correlation and Predictive Role of Crystal Structure.

Published in:

Human Mutation, 2014, v. 35, n. 11, p. 1330, doi. 10.1002/humu.22677

By:

Symoens, Sofie;
Hulmes, David J.S.;
Bourhis, Jean‐Marie;
Coucke, Paul J.;
De Paepe, Anne;
Malfait, Fransiska

Publication type:

Article

An Efficient Pipeline for the Generation and Functional Analysis of Human BRCA2 Variants of Uncertain Significance.

Published in:

Human Mutation, 2014, v. 35, n. 11, p. 1382, doi. 10.1002/humu.22678

By:

Hendriks, Giel;
Morolli, Bruno;
Calléja, Fabienne M.G.R.;
Plomp, Anouk;
Mesman, Romy L.S.;
Meijers, Matty;
Sharan, Shyam K.;
Vreeswijk, Maaike P.G.;
Vrieling, Harry

Publication type:

Article

Three Different Cone Opsin Gene Array Mutational Mechanisms with Genotype-Phenotype Correlation and Functional Investigation of Cone Opsin Variants.

Published in:

Human Mutation, 2014, v. 35, n. 11, p. 1354, doi. 10.1002/humu.22679

By:

Gardner, Jessica C.;
Liew, Gerald;
Quan, Ying‐Hua;
Ermetal, Burcu;
Ueyama, Hisao;
Davidson, Alice E.;
Schwarz, Nele;
Kanuga, Naheed;
Chana, Ravinder;
Maher, Eamonn R.;
Webster, Andrew R.;
Holder, Graham E.;
Robson, Anthony G.;
Cheetham, Michael E.;
Liebelt, Jan;
Ruddle, Jonathan B.;
Moore, Anthony T.;
Michaelides, Michel;
Hardcastle, Alison J.

Publication type:

Article

Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-t RNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome.

Published in:

Human Mutation, 2014, v. 35, n. 11, p. 1285, doi. 10.1002/humu.22629

By:

Schwartzentruber, Jeremy;
Buhas, Daniela;
Majewski, Jacek;
Sasarman, Florin;
Papillon‐Cavanagh, Simon;
Thiffaut, Isabelle;
Sheldon, Katherine M.;
Massicotte, Christine;
Patry, Lysanne;
Simon, Mariella;
Zare, Amir S.;
McKernan, Kevin J.;
Michaud, Jacques;
Boles, Richard G.;
Deal, Cheri L.;
Desilets, Valerie;
Shoubridge, Eric A.;
Samuels, Mark E.

Publication type:

Article

Contents.

Published in:: 2014
Publication type:: Other

Comprehensive Analysis of Pathogenic Deletion Variants in Fanconi Anemia Genes.

Published in:

Human Mutation, 2014, v. 35, n. 11, p. 1342, doi. 10.1002/humu.22680

By:

Flynn, Elizabeth K.;
Kamat, Aparna;
Lach, Francis P.;
Donovan, Frank X.;
Kimble, Danielle C.;
Narisu, Narisu;
Sanborn, Erica;
Boulad, Farid;
Davies, Stella M.;
Gillio, Alfred P.;
Harris, Richard E.;
MacMillan, Margaret L.;
Wagner, John E.;
Smogorzewska, Agata;
Auerbach, Arleen D.;
Ostrander, Elaine A.;
Chandrasekharappa, Settara C.

Publication type:

Article

Impaired Function is a Common Feature of Neuropathy-Associated Glycyl-t RNA Synthetase Mutations.

Published in:

Human Mutation, 2014, v. 35, n. 11, p. 1363, doi. 10.1002/humu.22681

By:

Griffin, Laurie B.;
Sakaguchi, Reiko;
McGuigan, David;
Gonzalez, Michael A.;
Searby, Charles;
Züchner, Stephan;
Hou, Ya‐Ming;
Antonellis, Anthony

Publication type:

Article

RASopathy-Associated CBL Germline Mutations Cause Aberrant Ubiquitylation and Trafficking of EGFR.

Published in:

Human Mutation, 2014, v. 35, n. 11, p. 1372, doi. 10.1002/humu.22682

By:

Brand, Kristina;
Kentsch, Hendrik;
Glashoff, Christina;
Rosenberger, Georg

Publication type:

Article

A CGG-Repeat Expansion Mutation in ZNF713 Causes FRA7 A: Association with Autistic Spectrum Disorder in Two Families.

Published in:

Human Mutation, 2014, v. 35, n. 11, p. 1295, doi. 10.1002/humu.22683

By:

Metsu, Sofie;
Rainger, Jacqueline K.;
Debacker, Kim;
Bernhard, Birgitta;
Rooms, Liesbeth;
Grafodatskaya, Daria;
Weksberg, Rosanna;
Fombonne, Eric;
Taylor, Martin S.;
Scherer, Stephen W.;
Kooy, R. Frank;
FitzPatrick, David R.

Publication type:

Article

Mutational and Functional Analysis of the Tumor-Suppressor PTPRD in Human Melanoma.

Published in:

Human Mutation, 2014, v. 35, n. 11, p. 1301, doi. 10.1002/humu.22630

By:

Walia, Vijay;
Prickett, Todd D.;
Kim, Jung‐Sik;
Gartner, Jared J.;
Lin, Jimmy C.;
Zhou, Ming;
Rosenberg, Steven A.;
Elble, Randolph C.;
Solomon, David A.;
Waldman, Todd;
Samuels, Yardena

Publication type:

Article

Functional and Clinical Impact of Novel Tmprss6 Variants in Iron-Refractory Iron-Deficiency Anemia Patients and Genotype-Phenotype Studies.

Published in:

Human Mutation, 2014, v. 35, n. 11, p. 1321, doi. 10.1002/humu.22632

By:

Falco, Luigia;
Silvestri, Laura;
Kannengiesser, Caroline;
Morán, Erica;
Oudin, Claire;
Rausa, Marco;
Bruno, Mariasole;
Aranda, Jessica;
Argiles, Bienvenida;
Yenicesu, Idil;
Falcon‐Rodriguez, Maria;
Yilmaz‐Keskin, Ebru;
Kocak, Ulker;
Beaumont, Carole;
Camaschella, Clara;
Iolascon, Achille;
Grandchamp, Bernard;
Sanchez, Mayka

Publication type:

Article

A Novel SHOC2 Variant in Rasopathy.

Published in:

Human Mutation, 2014, v. 35, n. 11, p. 1290, doi. 10.1002/humu.22634

By:

Hannig, Vickie;
Jeoung, Myoungkun;
Jang, Eun Ryoung;
Phillips, John A.;
Galperin, Emilia

Publication type:

Article

Morquio A Syndrome-Associated Mutations: A Review of Alterations in the GALNS Gene and a New Locus-Specific Database.

Published in:

Human Mutation, 2014, v. 35, n. 11, p. 1271, doi. 10.1002/humu.22635

By:

Morrone, Amelia;
Caciotti, Anna;
Atwood, Robert;
Davidson, Kathryn;
Du, Chaoyi;
Francis‐Lyon, Patricia;
Harmatz, Paul;
Mealiffe, Matthew;
Mooney, Sean;
Oron, Tal Ronnen;
Ryles, April;
Zawadzki, Karl A.;
Miller, Nicole

Publication type:

Article

Impaired Development of Neural-Crest Cell-Derived Organs and Intellectual Disability Caused by MED13L Haploinsufficiency.

Published in:

Human Mutation, 2014, v. 35, n. 11, p. 1311, doi. 10.1002/humu.22636

By:

Utami, Kagistia Hana;
Winata, Cecilia Lanny;
Hillmer, Axel M.;
Aksoy, Irene;
Long, Hoang Truong;
Liany, Herty;
Chew, Elaine G. Y.;
Mathavan, Sinnakaruppan;
Tay, Stacey K. H.;
Korzh, Vladimir;
Sarda, Pierre;
Davila, Sonia;
Cacheux, Valere

Publication type:

Article

Instability of Trinucleotidic Repeats During Chromatin Remodeling in Spermatids.

Published in:

Human Mutation, 2014, v. 35, n. 11, p. 1280, doi. 10.1002/humu.22637

By:

Simard, Olivier;
Grégoire, Marie‐Chantal;
Arguin, Mélina;
Brazeau, Marc‐André;
Leduc, Frédéric;
Marois, Isabelle;
Richter, Martin V.;
Boissonneault, Guylain

Publication type:

Article