Volume 33; Issue 8

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Human Mutation
Volume 33; Issue 8

Human Mutation

Volume 33; Issue 8

1

Mutation update on the CHD7 gene involved in CHARGE syndrome

Nicole Janssen, Jorieke E. H. Bergman, Morris A. Swertz, Lisbeth Tranebjaerg, Marianne Lodahl, Jeroen Schoots, Robert M. W. Hofstra, Conny M. A. van Ravenswaaij-Arts, Lies H. Hoefsloot

Journal:

Year:

2012

Language:

english

File:

PDF, 348 KB

english, 2012

2

SURF1-associated leigh syndrome: A case series and novel mutations

Inn-Chi Lee, Ayman W. El-Hattab, Jing Wang, Fang-Yuan Li, Shao-Wen Weng, William J. Craigen, Lee-Jun C. Wong

Journal:

Year:

2012

Language:

english

File:

PDF, 369 KB

english, 2012

3

A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia

Florin Sasarman, Tamiko Nishimura, Isabelle Thiffault, Eric A. Shoubridge

Journal:

Year:

2012

Language:

english

File:

PDF, 365 KB

english, 2012

4

Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase

Peter Huppke, Cornelia Brendel, Georg Christoph Korenke, Iris Marquardt, Anthony Donsante, Ling Yi, Julia D. Hicks, Peter J. Steinbach, Callum Wilson, Orly Elpeleg, Lisbeth Birk Møller, John Christodo

Journal:

Year:

2012

Language:

english

File:

PDF, 475 KB

english, 2012

5

Differential effects of AKT1(p.E17K) expression on human mammary luminal epithelial and myoepithelial cells

Bodour Salhia, Courtney Van Cott, Tony Tegeler, Ashoka Polpitiya, Rachelle A. DuQuette, Molly Gale, Galen Hostteter, Konstantinos Petritis, John Carpten

Journal:

Year:

2012

Language:

english

File:

PDF, 587 KB

english, 2012

6

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

Claude Houdayer, Virginie Caux-Moncoutier, Sophie Krieger, Michel Barrois, Françoise Bonnet, Violaine Bourdon, Myriam Bronner, Monique Buisson, Florence Coulet, Pascaline Gaildrat, Cédrick Lefol, Méla

Journal:

Year:

2012

Language:

english

File:

PDF, 333 KB

english, 2012

7

PON-P: Integrated predictor for pathogenicity of missense variants

Ayodeji Olatubosun, Jouni Väliaho, Jani Härkönen, Janita Thusberg, Mauno Vihinen

Journal:

Year:

2012

Language:

english

File:

PDF, 318 KB

english, 2012

8

Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients

Marie-Pierre Audrézet, Emilie Cornec-Le Gall, Jian-Min Chen, Sylvia Redon, Isabelle Quéré, Joelle Creff, Caroline Bénech, Sandrine Maestri, Yann Le Meur, Claude Férec

Journal:

Year:

2012

Language:

english

File:

PDF, 465 KB

english, 2012

9

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

Mathilde Nizon, Céline Huber, Fabio De Leonardis, Rodolphe Merrina, Antonella Forlino, Mélanie Fradin, Beyhan Tuysuz, Bassam Y. Abu-Libdeh, Yasemin Alanay, Beate Albrecht, Lihadh Al-Gazali, Sarenur Yi

Journal:

Year:

2012

Language:

english

File:

PDF, 315 KB

english, 2012

10

LTBP2 mutations cause Weill–Marchesani and Weill–Marchesani-like syndrome and affect disruptions in the extracellular matrix

Ramona Haji-Seyed-Javadi, Sahar Jelodari-Mamaghani, Seyed Hassan Paylakhi, Shahin Yazdani, Naveed Nilforushan, Jian-Bing Fan, Brandy Klotzle, Mohammad Jafar Mahmoudi, Mohammad Jafar Ebrahimian, Noori

Journal:

Year:

2012

Language:

english

File:

PDF, 360 KB

english, 2012

11

A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome

Jorieke E.H. Bergman, Nicole Janssen, Almer M. van der Sloot, Hermien E.K. de Walle, Jeroen Schoots, Nanna D. Rendtorff, Lisbeth Tranebjærg, Lies H. Hoefsloot, Conny M.A. van Ravenswaaij-Arts, Robert

Journal:

Year:

2012

Language:

english

File:

PDF, 399 KB

english, 2012

12

Functional analysis of nonsynonymous single nucleotide polymorphisms in human SLC26A9

An-Ping Chen, Min-Hwang Chang, Michael F. Romero

Journal:

Year:

2012

Language:

english

File:

PDF, 430 KB

english, 2012

13

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

Marian Kroos, Marianne Hoogeveen-Westerveld, Helen Michelakakis, Robert Pomponio, Ans Van der Ploeg, Dicky Halley, Arnold Reuser, GAA Database Consortium:, Persephone Augoustides-Savvopoulou, Margreet

Journal:

Year:

2012

Language:

english

File:

PDF, 148 KB

english, 2012

14

Mitochondrial tRNA mutations are associated with maternally inherited hypertension in two Han Chinese pedigrees

Qiaomeng Qiu, Ronghua Li, Pingping Jiang, Ling Xue, Yang Lu, Yaman Song, Jungang Han, Zhongqiu Lu, Shaoce Zhi, Jun Qin Mo, Min-Xin Guan

Journal:

Year:

2012

Language:

english

File:

PDF, 508 KB

english, 2012

15

Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis

David L. Masica, Patrick R. Sosnay, Garry R. Cutting, Rachel Karchin

Journal:

Year:

2012

Language:

english

File:

PDF, 253 KB

english, 2012

16

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

Christine P. Diggle, David A. Parry, Clare V. Logan, Paul Laissue, Carolina Rivera, Carlos Martín Restrepo, Dora J. Fonseca, Joanne E. Morgan, Yannick Allanore, Michaela Fontenay, Julien Wipff, Mathil

Journal:

Year:

2012

Language:

english

File:

PDF, 431 KB

english, 2012

17

Paralogous annotation of disease-causing variants in long QT syndrome genes

James S. Ware, Roddy Walsh, Fiona Cunningham, Ewan Birney, Stuart A. Cook

Journal:

Year:

2012

Language:

english

File:

PDF, 182 KB

english, 2012

18

Tandem repeat sequence variation as causative Cis-eQTLs for protein-coding gene expression variation: The case of CSTB

Christelle Borel, Eugenia Migliavacca, Audrey Letourneau, Maryline Gagnebin, Frédérique Béna, M. Reza Sailani, Emmanouil T. Dermitzakis, Andrew J. Sharp, Stylianos E. Antonarakis

Journal:

Year:

2012

Language:

english

File:

PDF, 364 KB

english, 2012

19

Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients

Jukka Kantelinen, Minttu Kansikas, Satu Candelin, Heather Hampel, Betsy Smith, Liisa Holm, Reetta Kariola, Minna Nyström

Journal:

Year:

2012

Language:

english

File:

PDF, 394 KB

english, 2012

20

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies

Andrea Klein, Suzanne Lillis, Iulia Munteanu, Mariacristina Scoto, Haiyan Zhou, Ros Quinlivan, Volker Straub, Adnan Y. Manzur, Helen Roper, Pierre-Yves Jeannet, Wojtek Rakowicz, David Hilton Jones, Uf

Journal:

Year:

2012

Language:

english

File:

PDF, 82 KB

english, 2012

21

In memory of David L. Rimoin, MD, PhD (1936–2012)

Haig H. Kazazian

Journal:

Year:

2012

Language:

english

File:

PDF, 123 KB

english, 2012

22

Integrated evaluation of CHD7 missense substitutions for CHARGE syndrome clinical genetics

Journal:

Year:

2012

Language:

english

File:

PDF, 90 KB

english, 2012

23

Tandem repeat polymorphisms as modulators of biological function and dysfunction

Anthony J. Hannan

Journal:

Year:

2012

Language:

english

File:

PDF, 90 KB

english, 2012