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
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
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
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
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
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
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
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