Volume 33; Issue 3

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Human Mutation
Volume 33; Issue 3

Human Mutation

Volume 33; Issue 3

1

A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants

Mark Drost, José B.M. Zonneveld, Sandrine van Hees, Lene Juel Rasmussen, Robert M.W. Hofstra, Niels de Wind

Journal:

Year:

2012

Language:

english

File:

PDF, 425 KB

english, 2012

2

Static respiratory cilia associated with mutations in Dnahc11/DNAH11: A mouse model of PCD

Jane S. Lucas, Elizabeth C. Adam, Patricia M. Goggin, Claire L. Jackson, Nicola Powles-Glover, Saloni H Patel, James Humphreys, Martin D. Fray, Emilie Falconnet, Jean-Louis Blouin, Michael T. Cheesema

Journal:

Year:

2012

Language:

english

File:

PDF, 608 KB

english, 2012

3

The defective splicing caused by the ISCU intron mutation in patients with myopathy with lactic acidosis is repressed by PTBP1 but can be derepressed by IGF2BP1

Angelica Nordin, Elin Larsson, Monica Holmberg

Journal:

Year:

2012

Language:

english

File:

PDF, 218 KB

english, 2012

4

Identification and functional characterization of two novel mutations in the α-helical loop (residues 484–503) of CYBB/gp91phox resulting in the rare X91+ variant of chronic granulomatous disease

Bernadette Boog, Alex Quach, Maurizio Costabile, Joanne Smart, Patrick Quinn, Harmeet Singh, Michael Gold, Grant Booker, Sharon Choo, Charles S. Hii, Antonio Ferrante

Journal:

Year:

2012

Language:

english

File:

PDF, 270 KB

english, 2012

5

Non-USH2A mutations in USH2 patients

Thomas Besnard, Christel Vaché, David Baux, Lise Larrieu, Caroline Abadie, Catherine Blanchet, Sylvie Odent, Patricia Blanchet, Patrick Calvas, Christian Hamel, Hélène Dollfus, Geneviève Lina-Granade,

Journal:

Year:

2012

Language:

english

File:

PDF, 304 KB

english, 2012

6

Identification of 83 novel alpha-mannosidosis-associated sequence variants: Functional analysis of MAN2B1 missense mutations

Hilde Monica Frostad Riise Stensland, Helle Bagterp Klenow, Lam Van Nguyen, Gaute Martin Hansen, Dag Malm, Øivind Nilssen

Journal:

Year:

2012

Language:

english

File:

PDF, 206 KB

english, 2012

7

Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex

Marianne Hoogeveen-Westerveld, Rosemary Ekong, Sue Povey, Izabela Karbassi, Sat Dev Batish, Johan T. den Dunnen, Agnies van Eeghen, Elizabeth Thiele, Karin Mayer, Kira Dies, Li Wen, Catherine Thompson

Journal:

Year:

2012

Language:

english

File:

PDF, 210 KB

english, 2012

8

HGV2011: Personalized genomic medicine meets the incidentalome

Melissa A. Wilson Sayres, Anthony J. Brookes, Stephen J. Chanock, Vivian G. Cheung, David B. Goldstein, Li Jin, Pui-Yan Kwok

Journal:

Year:

2012

Language:

english

File:

PDF, 127 KB

english, 2012

9

Genome-wide and gene-based association implicates FRMD6 in alzheimer disease

Mun-Gwan Hong, Chandra A. Reynolds, Adina L. Feldman, Mikael Kallin, Jean-Charles Lambert, Philippe Amouyel, Erik Ingelsson, Nancy L. Pedersen, Jonathan A. Prince

Journal:

Year:

2012

Language:

english

File:

PDF, 237 KB

english, 2012

10

Genome-wide analysis of familial dysautonomia and kinetin target genes with patient olfactory ecto-mesenchymal stem cells

Nathalie Boone, Aurélie Bergon, Béatrice Loriod, Arnaud Devèze, Catherine Nguyen, Felicia B Axelrod, El Chérif Ibrahim

Journal:

Year:

2012

Language:

english

File:

PDF, 500 KB

english, 2012

11

Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/−) stem cells

Angelika C. Roehl, Tanja Mussotter, David N. Cooper, Lan Kluwe, Katharina Wimmer, Josef Högel, Marion Zetzmann, Julia Vogt, Victor-Felix Mautner, Hildegard Kehrer-Sawatzki

Journal:

Year:

2012

Language:

english

File:

PDF, 331 KB

english, 2012

12

A frequent somatic mutation in CD274 3′-UTR leads to protein over-expression in gastric cancer by disrupting miR-570 binding

Weipeng Wang, Jing Sun, Fang Li, Rui Li, Yongping Gu, Cuiping Liu, Peng Yang, Ming Zhu, Lujun Chen, Wenyan Tian, Huan Zhou, Yong Mao, Liang Zhang, Jingting Jiang, Changping Wu, Dong Hua, Weichang Chen

Journal:

Year:

2012

Language:

english

File:

PDF, 275 KB

english, 2012

13

UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene

Gaelle Blandin, Christophe Beroud, Veronique Labelle, Karine Nguyen, Nicolas Wein, Dalil Hamroun, Brad Williams, Nilah Monnier, Laura E. Rufibach, Jon Andoni Urtizberea, Pierre Cau, Marc Bartoli, Nico

Journal:

Year:

2012

Language:

english

File:

PDF, 150 KB

english, 2012

14

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype–phenotype study

Mijke M. M. Verhagen, James I. Last, Frans B. L. Hogervorst, Dominique F. C. M. Smeets, Nel Roeleveld, Frans Verheijen, Coriene E. Catsman-Berrevoets, Nico M. Wulffraat, Jan M. Cobben, Johan Hiel, Ewo

Journal:

Year:

2012

Language:

english

File:

PDF, 383 KB

english, 2012

15

Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array

Matteo Bovolenta, Chiara Scotton, Maria Sofia Falzarano, Francesca Gualandi, Alessandra Ferlini

Journal:

Year:

2012

Language:

english

File:

PDF, 579 KB

english, 2012

16

Exome and genome analysis as a tool for disease identification and treatment: The 2011 human genome variation society scientific meeting

William S. Oetting

Journal:

Year:

2012

Language:

english

File:

PDF, 133 KB

english, 2012

17

Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip

Christian Thiel, Nina Rind, Diana Popovici, Georg F. Hoffmann, Kristen Hanson, Robert L. Conway, Craig R. Adamski, Elizabeth Butler, Rhonda Scanlon, Marie Lambert, Neophytos Apeshiotis, Charlotte Thie

Journal:

Year:

2012

Language:

english

File:

PDF, 162 KB

english, 2012

18

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

Matthew Bower, Rémi Salomon, Judith Allanson, Corinne Antignac, Francesco Benedicenti, Elisa Benetti, Gil Binenbaum, Uffe B. Jensen, Pierre Cochat, Stephane DeCramer, Joanne Dixon, Regen Drouin, Marni

Journal:

Year:

2012

Language:

english

File:

PDF, 269 KB

english, 2012

19

Differential MicroRNA expression tracks neoplastic progression in inflammatory bowel disease-associated colorectal cancer

Ziad Kanaan, Shesh N. Rai, M. Robert Eichenberger, Christopher Barnes, Amy M. Dworkin, Clayton Weller, Eric Cohen, Henry Roberts, Bobby Keskey, Robert E. Petras, Nigel P.S. Crawford, Susan Galandiuk

Journal:

Year:

2012

Language:

english

File:

PDF, 486 KB

english, 2012

20

Looks normal, but may not function properly: A “new” mouse model for primary ciliary dyskinesia

Journal:

Year:

2012

Language:

english

File:

PDF, 83 KB

english, 2012

21

Olfactory cells aid in the understanding of neurodegenerative disorders

Journal:

Year:

2012

Language:

english

File:

PDF, 83 KB

english, 2012

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