Volume 32; Issue 3

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Human Mutation
Volume 32; Issue 3

Human Mutation

Volume 32; Issue 3

1

EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients

Virginie Caux-Moncoutier, Laurent Castéra, Carole Tirapo, Dorothée Michaux, Marie-Alice Rémon, Anthony Laugé, Etienne Rouleau, Antoine De Pauw, Bruno Buecher, Marion Gauthier-Villars, Jean-Louis Viovy

Journal:

Year:

2011

Language:

english

File:

PDF, 250 KB

english, 2011

2

Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome

Alexandre Fabre, Christine Martinez-Vinson, Bertrand Roquelaure, Chantal Missirian, Nicolas André, Anne Breton, Alain Lachaux, Egritas Odul, Virginie Colomb, Julie Lemale, Jean-Pierre Cézard, Olivier

Journal:

Year:

2011

Language:

english

File:

PDF, 261 KB

english, 2011

3

Defining the pathogenicity of creatine deficiency syndrome

Patricia Alcaide, Begoña Merinero, Pedro Ruiz-Sala, Eva Richard, Rosa Navarrete, Ángela Arias, Antonia Ribes, Rafael Artuch, Jaume Campistol, Magdalena Ugarte, Pilar Rodríguez-Pombo

Journal:

Year:

2011

Language:

english

File:

PDF, 326 KB

english, 2011

4

NSD1 PHD domains bind methylated H3K4 and H3K9 using interactions disrupted by point mutations in human sotos syndrome

Martina P. Pasillas, Meera Shah, Mark P. Kamps

Journal:

Year:

2011

Language:

english

File:

PDF, 469 KB

english, 2011

5

Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene

Kevin M. Flanigan, Diane M. Dunn, Andrew von Niederhausern, Payam Soltanzadeh, Michael T. Howard, Jacinda B. Sampson, Kathryn J. Swoboda, Mark B. Bromberg, Jerry R. Mendell, Laura E. Taylor, Christine

Journal:

Year:

2011

Language:

english

File:

PDF, 240 KB

english, 2011

6

Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations

Kim De Leeneer, Jan Hellemans, Joachim De Schrijver, Machteld Baetens, Bruce Poppe, Wim Van Criekinge, Anne De Paepe, Paul Coucke, Kathleen Claes

Journal:

Year:

2011

Language:

english

File:

PDF, 584 KB

english, 2011

7

Patterns of human genetic variation inferred from comparative analysis of allelic mutations in blood group antigen genes

Santosh Kumar Patnaik, Olga O. Blumenfeld

Journal:

Year:

2011

Language:

english

File:

PDF, 664 KB

english, 2011

8

Alterations of excitation–contraction coupling and excitation coupled Ca2+ entry in human myotubes carrying CAV3 mutations linked to rippling muscle

Nina D. Ullrich, Dirk Fischer, Cornelia Kornblum, Maggie C. Walter, Ernst Niggli, Francesco Zorzato, Susan Treves

Journal:

Year:

2011

Language:

english

File:

PDF, 370 KB

english, 2011

9

Homozygosity mapping on a single patient—identification of homozygous regions of recent common ancestry by using population data

Lu Zhang, Wanling Yang, Dingge Ying, Stacey S. Cherny, Friedhelm Hildebrandt, Pak Chung Sham, Yu Lung Lau

Journal:

Year:

2011

Language:

english

File:

PDF, 693 KB

english, 2011

10

A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the βB1/βA3-crystallin heteromer but not the βB1-crystallin homomer

Kai Jie Wang, Sha Wang, Ni-Qian Cao, Yong-Bin Yan, Si Quan Zhu

Journal:

Year:

2011

Language:

english

File:

PDF, 647 KB

english, 2011

11

Dendritic cells from humans with hypomorphic mutations in IKBKG/NEMO have impaired mitogen-activated protein kinase activity

Chi A. Ma, Hong-Ying Wang, Stephane Temmerman, Yongge Zhao, Liming Wu, Ronald L. Hornung, Diane Wara, Ashish Jain

Journal:

Year:

2011

Language:

english

File:

PDF, 268 KB

english, 2011

12

Germline gain-of-function mutations of ALK disrupt central nervous system development

Loïc de Pontual, Dania Kettaneh, Christopher T. Gordon, Myriam Oufadem, Nathalie Boddaert, Melissa Lees, Laurent Balu, Eric Lachassinne, Andy Petros, Julie Mollet, Louise C. Wilson, Arnold Munnich, La

Journal:

Year:

2011

Language:

english

File:

PDF, 265 KB

english, 2011

13

New germline syndrome with brainstem abnormalities and neuroblastoma, caused by ALK mutation

Andrew O. M. Wilkie

Journal:

Year:

2011

Language:

english

File:

PDF, 62 KB

english, 2011

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