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

Results: 20

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
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
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 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
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
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
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
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
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
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
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
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
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
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
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
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
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