Works in Human Mutation, 2012, Vol 33, Issue 3

Results: 21

Non- USH2A mutations in USH2 patients.

Published in:

Human Mutation, 2012, v. 33, n. 3, p. 504, doi. 10.1002/humu.22004

By:

Besnard, Thomas;
Vaché, Christel;
Baux, David;
Larrieu, Lise;
Abadie, Caroline;
Blanchet, Catherine;
Odent, Sylvie;
Blanchet, Patricia;
Calvas, Patrick;
Hamel, Christian;
Dollfus, Hélène;
Lina-Granade, Geneviève;
Lespinasse, James;
David, Albert;
Isidor, Bertrand;
Morin, Gilles;
Malcolm, Sue;
Tuffery-Giraud, Sylvie;
Claustres, Mireille;
Roux, Anne-Françoise

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 3, p. E2317, doi. 10.1002/humu.22015

By:

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

Publication type:

Article

HGV2011: Personalized genomic medicine meets the incidentalome.

Published in:

Human Mutation, 2012, v. 33, n. 3, p. 582, doi. 10.1002/humu.22008

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 3, p. 485, doi. 10.1002/humu.22019

By:

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

Publication type:

Article

Olfactory cells aid in the understanding of neurodegenerative disorders.

Published in:

Human Mutation, 2012, v. 33, n. 3, p. 5, doi. 10.1002/humu.22571

By:

Shomron, Noam

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 3, p. 530, doi. 10.1002/humu.22010

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 3, p. 551, doi. 10.1002/humu.22021

By:

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

Publication type:

Article

Identification and functional characterization of two novel mutations in the α-helical loop (residues 484-503) of CYBB/gp91<sup> phox</sup> resulting in the rare X91<sup>+</sup> variant of chronic granulomatous disease.

Published in:

Human Mutation, 2012, v. 33, n. 3, p. 471, doi. 10.1002/humu.22003

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 3, p. 480, doi. 10.1002/humu.22014

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 3, p. 476, doi. 10.1002/humu.22007

By:

Hoogeveen-Westerveld, Marianne;
Ekong, Rosemary;
Povey, Sue;
Karbassi, Izabela;
Batish, Sat Dev;
den Dunnen, Johan T.;
van Eeghen, Agnies;
Thiele, Elizabeth;
Mayer, Karin;
Dies, Kira;
Wen, Li;
Thompson, Catherine;
Sparagana, Steven P.;
Davies, Peter;
Aalfs, Cora;
van den Ouweland, Ans;
Halley, Dicky;
Nellist, Mark

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 3, p. 586, doi. 10.1002/humu.22018

By:

Oetting, William S.

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 3, p. 5, doi. 10.1002/humu.22570

By:

Qi, Ming

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 3, p. 457, doi. 10.1002/humu.22020

By:

Bower, Matthew;
Salomon, Rémi;
Allanson, Judith;
Antignac, Corinne;
Benedicenti, Francesco;
Benetti, Elisa;
Binenbaum, Gil;
Jensen, Uffe B.;
Cochat, Pierre;
DeCramer, Stephane;
Dixon, Joanne;
Drouin, Regen;
Falk, Marni J.;
Feret, Holly;
Gise, Robert;
Hunter, Alasdair;
Johnson, Kisha;
Kumar, Rajiv;
Lavocat, Marie Pierre;
Martin, Laura

Publication type:

Article

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.

Published in:

Human Mutation, 2012, v. 33, n. 3, p. 467, doi. 10.1002/humu.22002

By:

Nordin, Angelica;
Larsson, Elin;
Holmberg, Monica

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 3, p. 541, doi. 10.1002/humu.22013

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 3, p. 572, doi. 10.1002/humu.22017

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 3, p. 495, doi. 10.1002/humu.22001

By:

Lucas, Jane S.;
Adam, Elizabeth C.;
Goggin, Patricia M.;
Jackson, Claire L.;
Powles-Glover, Nicola;
Patel, Saloni H;
Humphreys, James;
Fray, Martin D.;
Falconnet, Emilie;
Blouin, Jean-Louis;
Cheeseman, Michael T.;
Bartoloni, Lucia;
Norris, Dominic P.;
Lackie, Peter M.

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 3, p. 511, doi. 10.1002/humu.22005

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 3, p. 561, doi. 10.1002/humu.22016

By:

Verhagen, Mijke M. M.;
Last, James I.;
Hogervorst, Frans B. L.;
Smeets, Dominique F. C. M.;
Roeleveld, Nel;
Verheijen, Frans;
Catsman-Berrevoets, Coriene E.;
Wulffraat, Nico M.;
Cobben, Jan M.;
Hiel, Johan;
Brunt, Ewout R.;
Peeters, Els A. J.;
Gómez Garcia, Encarna B.;
van der Knaap, Marjo S.;
Lincke, Carsten R.;
Laan, Laura A. E. M.;
Tijssen, Marina A. J.;
van Rijn, Monique A.;
Majoor-Krakauer, Danielle;
Visser, Marjan

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 3, p. 521, doi. 10.1002/humu.22009

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 3, p. 488, doi. 10.1002/humu.22000

By:

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

Publication type:

Article