Works matching IS 10597794 AND DT 2016 AND VI 37 AND IP 2

Results: 14

TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome.

Published in:

Human Mutation, 2016, v. 37, n. 2, p. 155, doi. 10.1002/humu.22925

By:

Shylo, Natalia A.;
Christopher, Kasey J.;
Iglesias, Alejandro;
Daluiski, Aaron;
Weatherbee, Scott D.

Publication type:

Article

Issue Information.

Published in:: 2016
Publication type:: Other

A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia.

Published in:

Human Mutation, 2016, v. 37, n. 2, p. 165, doi. 10.1002/humu.22930

By:

Yang, Ying;
Liu, Wei;
Fang, Zhipeng;
Shi, Juan;
Che, Fengyu;
He, Chunxia;
Yao, Libo;
Wang, Enduo;
Wu, Yuanming

Publication type:

Article

Correction of a Cystic Fibrosis Splicing Mutation by Antisense Oligonucleotides.

Published in:

Human Mutation, 2016, v. 37, n. 2, p. 209, doi. 10.1002/humu.22931

By:

Igreja, Susana;
Clarke, Luka A.;
Botelho, Hugo M.;
Marques, Luís;
Amaral, Margarida D.

Publication type:

Article

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.

Published in:

Human Mutation, 2016, v. 37, n. 2, p. 170, doi. 10.1002/humu.22934

By:

Zaki, Maha S.;
Heller, Raoul;
Thoenes, Michaela;
Nürnberg, Gudrun;
Stern‐Schneider, Gabi;
Nürnberg, Peter;
Karnati, Srikanth;
Swan, Daniel;
Fateen, Ekram;
Nagel‐Wolfrum, Kerstin;
Mostafa, Mostafa I.;
Thiele, Holger;
Wolfrum, Uwe;
Baumgart‐Vogt, Eveline;
Bolz, Hanno J.

Publication type:

Article

HMOX2 Functions as a Modifier Gene for High-Altitude Adaptation in Tibetans.

Published in:

Human Mutation, 2016, v. 37, n. 2, p. 216, doi. 10.1002/humu.22935

By:

Yang, Deying;
Peng, Yi;
Ouzhuluobu;
Bianbazhuoma;
Cui, Chaoying;
Bianba;
Wang, Liangbang;
Xiang, Kun;
He, Yaoxi;
Zhang, Hui;
Zhang, Xiaoming;
Liu, Jiewei;
Shi, Hong;
Pan, Yongyue;
Duojizhuoma;
Dejiquzong;
Cirenyangji;
Baimakangzhuo;
Gonggalanzi;
Liu, Shimin

Publication type:

Article

Cover Image, Volume 37, Issue 2.

Published in:: 2016
Publication type:: Other

From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.

Published in:

Human Mutation, 2016, v. 37, n. 2, p. 175, doi. 10.1002/humu.22922

By:

Negri, Gloria;
Magini, Pamela;
Milani, Donatella;
Colapietro, Patrizia;
Rusconi, Daniela;
Scarano, Emanuela;
Bonati, Maria Teresa;
Priolo, Manuela;
Crippa, Milena;
Mazzanti, Laura;
Wischmeijer, Anita;
Tamburrino, Federica;
Pippucci, Tommaso;
Finelli, Palma;
Larizza, Lidia;
Gervasini, Cristina

Publication type:

Article

SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.

Published in:

Human Mutation, 2016, v. 37, n. 2, p. 139, doi. 10.1002/humu.22923

By:

Zampieri, Stefania;
Filocamo, Mirella;
Pianta, Annalisa;
Lualdi, Susanna;
Gort, Laura;
Coll, Maria Jose;
Sinnott, Richard;
Geberhiwot, Tarekegn;
Bembi, Bruno;
Dardis, Andrea

Publication type:

Article

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.

Published in:

Human Mutation, 2016, v. 37, n. 2, p. 148, doi. 10.1002/humu.22924

By:

Huang, Lijia;
Vanstone, Megan R.;
Hartley, Taila;
Osmond, Matthew;
Barrowman, Nick;
Allanson, Judith;
Baker, Laura;
Dabir, Tabib A.;
Dipple, Katrina M.;
Dobyns, William B.;
Estrella, Jane;
Faghfoury, Hanna;
Favaro, Francine P.;
Goel, Himanshu;
Gregersen, Pernille A.;
Gripp, Karen W.;
Grix, Art;
Guion‐Almeida, Maria‐Leine;
Harr, Margaret H.;
Hudson, Cindy

Publication type:

Article

Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations.

Published in:

Human Mutation, 2016, v. 37, n. 2, p. 184, doi. 10.1002/humu.22926

By:

Liquori, Alessandro;
Vaché, Christel;
Baux, David;
Blanchet, Catherine;
Hamel, Christian;
Malcolm, Sue;
Koenig, Michel;
Claustres, Mireille;
Roux, Anne‐Françoise

Publication type:

Article

Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population.

Published in:

Human Mutation, 2016, v. 37, n. 2, p. 201, doi. 10.1002/humu.22927

By:

Hughes, Erin E.;
Stevens, Colleen F.;
Saavedra‐Matiz, Carlos A.;
Tavakoli, Norma P.;
Krein, Lea M.;
Parker, April;
Zhang, Zhen;
Maloney, Breanne;
Vogel, Beth;
DeCelie‐Germana, Joan;
Kier, Catherine;
Anbar, Ran D.;
Berdella, Maria N.;
Comber, Paul G.;
Dozor, Allen J.;
Goetz, Danielle M.;
Guida, Louis;
Kattan, Meyer;
Ting, Andrew;
Voter, Karen Z.

Publication type:

Article

A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function.

Published in:

Human Mutation, 2016, v. 37, n. 2, p. 194, doi. 10.1002/humu.22928

By:

Noël, Emily S.;
Momenah, Tarek S.;
Al‐Dagriri, Khalid;
Al‐Suwaid, Abdulrahman;
Al‐Shahrani, Safar;
Jiang, Hui;
Willekers, Sven;
Oostveen, Yara Y.;
Chocron, Sonja;
Postma, Alex V.;
Bhuiyan, Zahurul A.;
Bakkers, Jeroen

Publication type:

Article

Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation.

Published in:

Human Mutation, 2016, v. 37, n. 2, p. 160, doi. 10.1002/humu.22929

By:

Gu, Shen;
Posey, Jennifer E.;
Yuan, Bo;
Carvalho, Claudia M.B.;
Luk, H.M.;
Erikson, Kelly;
Lo, Ivan F.M.;
Leung, Gordon K.C.;
Pickering, Curtis R.;
Chung, Brian H.Y.;
Lupski, James R.

Publication type:

Article