Works matching IS 10597794 AND DT 2013 AND VI 34 AND IP 12

Results: 20

Topology and Membrane Anchoring of the Lysosomal Storage Disease-Related Protein CLN5.

Published in:

Human Mutation, 2013, v. 34, n. 12, p. 1688, doi. 10.1002/humu.22443

By:

Larkin, Heidi;
Ribeiro, Maria Gil;
Lavoie, Christine

Publication type:

Article

Severity of X-linked Dyskeratosis Congenita ( DKCX) Cellular Defects Is not Directly Related to Dyskerin ( DKC1) Activity in Ribosomal RNA Biogenesis or m RNA Translation.

Published in:

Human Mutation, 2013, v. 34, n. 12, p. 1698, doi. 10.1002/humu.22447

By:

Thumati, Naresh R.;
Zeng, Xi‐Lei;
Au, Hilda H. T.;
Jang, Christopher J.;
Jan, Eric;
Wong, Judy M. Y.

Publication type:

Article

Small Insertions Are More Deleterious than Small Deletions in Human Genomes.

Published in:

Human Mutation, 2013, v. 34, n. 12, p. 1642, doi. 10.1002/humu.22435

By:

Huang, Shengfeng;
Li, Jie;
Xu, Anlong;
Huang, Guangrui;
You, Leiming

Publication type:

Article

De Novo Mutations in SLC35 A2 Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy.

Published in:

Human Mutation, 2013, v. 34, n. 12, p. 1708, doi. 10.1002/humu.22446

By:

Kodera, Hirofumi;
Nakamura, Kazuyuki;
Osaka, Hitoshi;
Maegaki, Yoshihiro;
Haginoya, Kazuhiro;
Mizumoto, Shuji;
Kato, Mitsuhiro;
Okamoto, Nobuhiko;
Iai, Mizue;
Kondo, Yukiko;
Nishiyama, Kiyomi;
Tsurusaki, Yoshinori;
Nakashima, Mitsuko;
Miyake, Noriko;
Hayasaka, Kiyoshi;
Sugahara, Kazuyuki;
Yuasa, Isao;
Wada, Yoshinao;
Matsumoto, Naomichi;
Saitsu, Hirotomo

Publication type:

Article

GATA4 Loss-of-Function Mutations Underlie Familial Tetralogy of Fallot.

Published in:

Human Mutation, 2013, v. 34, n. 12, p. 1662, doi. 10.1002/humu.22434

By:

Yang, Yi‐Qing;
Gharibeh, Lara;
Li, Ruo‐Gu;
Xin, Yuan‐Feng;
Wang, Juan;
Liu, Zhong‐Min;
Qiu, Xing‐Biao;
Xu, Ying‐Jia;
Xu, Lei;
Qu, Xin‐Kai;
Liu, Xu;
Fang, Wei‐Yi;
Huang, Ri‐Tai;
Xue, Song;
Nemer, Georges

Publication type:

Article

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases.

Published in:

Human Mutation, 2013, v. 34, n. 12, p. 1721, doi. 10.1002/humu.22450

By:

Neveling, Kornelia;
Feenstra, Ilse;
Gilissen, Christian;
Hoefsloot, Lies H.;
Kamsteeg, Erik‐Jan;
Mensenkamp, Arjen R.;
Rodenburg, Richard J. T.;
Yntema, Helger G.;
Spruijt, Liesbeth;
Vermeer, Sascha;
Rinne, Tuula;
Gassen, Koen L.;
Bodmer, Danielle;
Lugtenberg, Dorien;
Reuver, Rick;
Buijsman, Wendy;
Derks, Ronny C.;
Wieskamp, Nienke;
Heuvel, Bert;
Ligtenberg, Marjolijn J.L.

Publication type:

Article

Clinical Spectrum of LIG4 Deficiency Is Broadened with Severe Dysmaturity, Primordial Dwarfism, and Neurological Abnormalities.

Published in:

Human Mutation, 2013, v. 34, n. 12, p. 1611, doi. 10.1002/humu.22436

By:

IJspeert, Hanna;
Warris, Adilia;
Flier, Michiel;
Reisli, Ismail;
Keles, Sevgi;
Chishimba, Sandra;
Dongen, Jacques J.M.;
Gent, Dik C.;
Burg, Mirjam

Publication type:

Article

An Overview and Online Registry of Microvillus Inclusion Disease Patients and their MYO5B Mutations.

Published in:

Human Mutation, 2013, v. 34, n. 12, p. 1597, doi. 10.1002/humu.22440

By:

Velde, K. Joeri;
Dhekne, Herschel S.;
Swertz, Morris A.;
Sirigu, Serena;
Ropars, Virginie;
Vinke, Petra C.;
Rengaw, Trebor;
Akker, Peter C.;
Rings, Edmond H. H. M.;
Houdusse, Anne;
Ijzendoorn, Sven C. D.

Publication type:

Article

RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation.

Published in:

Human Mutation, 2013, v. 34, n. 12, p. 1632, doi. 10.1002/humu.22431

By:

Revencu, Nicole;
Boon, Laurence M.;
Mendola, Antonella;
Cordisco, Maria Rosa;
Dubois, Josée;
Clapuyt, Philippe;
Hammer, Frank;
Amor, David J.;
Irvine, Alan D.;
Baselga, Eulalia;
Dompmartin, Anne;
Syed, Samira;
Martin‐Santiago, Ana;
Ades, Lesley;
Collins, Felicity;
Smith, Janine;
Sandaradura, Sarah;
Barrio, Victoria R.;
Burrows, Patricia E.;
Blei, Francine

Publication type:

Article

Clinical Significance of De Novo and Inherited Copy-Number Variation.

Published in:

Human Mutation, 2013, v. 34, n. 12, p. 1679, doi. 10.1002/humu.22442

By:

Vulto‐van Silfhout, Anneke T.;
Hehir‐Kwa, Jayne Y.;
Bon, Bregje W.M.;
Schuurs‐Hoeijmakers, Janneke H.M.;
Meader, Stephen;
Hellebrekers, Claudia J.M.;
Thoonen, Ilse J.M.;
Brouwer, Arjan P.M.;
Brunner, Han G.;
Webber, Caleb;
Pfundt, Rolph;
Leeuw, Nicole;
Vries, Bert B.A.

Publication type:

Article

A Short-Read Multiplex Sequencing Method for Reliable, Cost-Effective and High-Throughput Genotyping in Large-Scale Studies.

Published in:

Human Mutation, 2013, v. 34, n. 12, p. 1715, doi. 10.1002/humu.22439

By:

Cao, Hongzhi;
Wang, Yu;
Zhang, Wei;
Chai, Xianghua;
Zhang, Xiandong;
Chen, Shiping;
Yang, Fan;
Zhang, Caifen;
Guo, Yulai;
Liu, Ying;
Tang, Zhoubiao;
Chen, Caifen;
Xue, Yaxin;
Zhen, Hefu;
Xu, Yinyin;
Rao, Bin;
Liu, Tao;
Zhao, Meiru;
Zhang, Wenwei;
Li, Yingrui

Publication type:

Article

A Systematic Large-scale Phenotypic Analysis of de novo and Inherited Copy Number Variation.

Published in:

Human Mutation, 2013, v. 34, n. 12, p. v, doi. 10.1002/humu.22200

By:

Robinson, Peter N.

Publication type:

Article

A Homozygous Mutation in LYRM7/ MZM1 L Associated with Early Onset Encephalopathy, Lactic Acidosis, and Severe Reduction of Mitochondrial Complex III Activity.

Published in:

Human Mutation, 2013, v. 34, n. 12, p. 1619, doi. 10.1002/humu.22441

By:

Invernizzi, Federica;
Tigano, Marco;
Dallabona, Cristina;
Donnini, Claudia;
Ferrero, Ileana;
Cremonte, Maurizio;
Ghezzi, Daniele;
Lamperti, Costanza;
Zeviani, Massimo

Publication type:

Article

Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome.

Published in:

Human Mutation, 2013, v. 34, n. 12, p. 1589, doi. 10.1002/humu.22430

By:

Mannini, Linda;
Cucco, Francesco;
Quarantotti, Valentina;
Krantz, Ian D.;
Musio, Antonio

Publication type:

Article

UBE2 QL1 is Disrupted by a Constitutional Translocation Associated with Renal Tumor Predisposition and is a Novel Candidate Renal Tumor Suppressor Gene.

Published in:

Human Mutation, 2013, v. 34, n. 12, p. 1650, doi. 10.1002/humu.22433

By:

Wake, Naomi C.;
Ricketts, Christopher J.;
Morris, Mark R.;
Prigmore, Elena;
Gribble, Susan M.;
Skytte, Anne‐Bine;
Brown, Michael;
Clarke, Noel;
Banks, Rosamonde E.;
Hodgson, Shirley;
Turnell, Andrew S.;
Maher, Eamonn R.;
Woodward, Emma R.

Publication type:

Article

RRBS- Analyser: A Comprehensive Web Server for Reduced Representation Bisulfite Sequencing Data Analysis.

Published in:

Human Mutation, 2013, v. 34, n. 12, p. 1606, doi. 10.1002/humu.22444

By:

Wang, Tao;
Liu, Qi;
Li, Xianfeng;
Wang, Xiaobing;
Li, Jinchen;
Zhu, Xiaochun;
Sun, Zhong Sheng;
Wu, Jinyu

Publication type:

Article

Whole-Exome Sequencing Identifies a Variant of the Mitochondrial MT- ND1 Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox- Gastaut Syndrome.

Published in:

Human Mutation, 2013, v. 34, n. 12, p. 1623, doi. 10.1002/humu.22445

By:

Delmiro, Aitor;
Rivera, Henry;
García‐Silva, María Teresa;
García‐Consuegra, Inés;
Martín‐Hernández, Elena;
Quijada‐Fraile, Pilar;
Las Heras, Rogelio Simón;
Moreno‐Izquierdo, Ana;
Martín, Miguel Ángel;
Arenas, Joaquín;
Martínez‐Azorín, Francisco

Publication type:

Article

Evaluation of Rare Variants in the New Fanconi Anemia Gene ERCC4 ( FANCQ) as Familial Breast/Ovarian Cancer Susceptibility Alleles.

Published in:

Human Mutation, 2013, v. 34, n. 12, p. 1615, doi. 10.1002/humu.22438

By:

Osorio, Ana;
Bogliolo, Massimo;
Fernández, Victoria;
Barroso, Alicia;
Hoya, Miguel;
Caldés, Trinidad;
Lasa, Adriana;
Ramón y Cajal, Teresa;
Santamariña, Marta;
Vega, Ana;
Quiles, Francisco;
Lázaro, Conxi;
Díez, Orland;
Fernández, Daniel;
González‐Sarmiento, Rogelio;
Durán, Mercedes;
Piqueras, José Fernández;
Marín, Maria;
Pujol, Roser;
Surrallés, Jordi

Publication type:

Article

Congenital Heart Defects in Patients with Deletions Upstream of SOX9.

Published in:

Human Mutation, 2013, v. 34, n. 12, p. 1628, doi. 10.1002/humu.22449

By:

Sanchez‐Castro, Marta;
Gordon, Christopher T.;
Petit, Florence;
Nord, Alex S.;
Callier, Patrick;
Andrieux, Joris;
Guérin, Patrice;
Pichon, Olivier;
David, Albert;
Abadie, Véronique;
Bonnet, Damien;
Visel, Axel;
Pennacchio, Len A.;
Amiel, Jeanne;
Lyonnet, Stanislas;
Le Caignec, Cédric

Publication type:

Article

Two Novel Mutations in ABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects.

Published in:

Human Mutation, 2013, v. 34, n. 12, p. 1672, doi. 10.1002/humu.22437

By:

Chen, Dong‐Hui;
Naydenov, Alipi;
Blankman, Jacqueline L.;
Mefford, Heather C.;
Davis, Marie;
Sul, Youngmee;
Barloon, A. Samuel;
Bonkowski, Emily;
Wolff, John;
Matsushita, Mark;
Smith, Corrine;
Cravatt, Benjamin F.;
Mackie, Ken;
Raskind, Wendy H.;
Stella, Nephi;
Bird, Thomas D.

Publication type:

Article