Works matching IS 10597794 AND DT 2010 AND VI 31 AND IP 6

Results: 23

KMeyeDB: a graphical database of mutations in genes that cause eye diseases.

Published in:

2010

By:

Kawamura, Takashi;
Ohtsubo, Masafumi;
Mitsuyama, Susumu;
Ohno-Nakamura, Saho;
Shimizu, Nobuyoshi;
Minoshima, Shinsei

Publication type:

Other

Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I.

Published in:

Human Mutation, 2010, v. 31, n. 6, p. 710, doi. 10.1002/humu.21251

By:

Walus, Mariusz;
Kida, Elizabeth;
Golabek, Adam A.

Publication type:

Article

Usher Syndrome Splicing Variants Evaluated in Nasal Epithelial Cells.

Published in:

Human Mutation, 2010, v. 31, n. 6, p. v, doi. 10.1002/humu.21291

By:

Rogan, Peter K.

Publication type:

Article

Role of SFRS13A in low-density lipoprotein receptor splicing.

Published in:

Human Mutation, 2010, v. 31, n. 6, p. 702, doi. 10.1002/humu.21244

By:

Ling, I-Fang;
Estus, Steven

Publication type:

Article

Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome.

Published in:

Human Mutation, 2010, v. 31, n. 6, p. 734, doi. 10.1002/humu.21255

By:

Vaché, Christel;
Besnard, Thomas;
Blanchet, Catherine;
Baux, David;
Larrieu, Lise;
Faugère, Valérie;
Mondain, Michel;
Hamel, Christian;
Malcolm, Sue;
Claustres, Mireille;
Roux, Anne-Françoise

Publication type:

Article

Allelic imbalance of expression and epigenetic regulation within the alpha-synuclein wild-type and p.Ala53Thr alleles in Parkinson disease.

Published in:

Human Mutation, 2010, v. 31, n. 6, p. 685, doi. 10.1002/humu.21248

By:

Voutsinas, Gerassimos E.;
Stavrou, Eleana F.;
Karousos, Gerassimos;
Dasoula, Aggeliki;
Papachatzopoulou, Adamantia;
Syrrou, Maria;
Verkerk, Annemieke J.M.H.;
van der Spek, Peter;
Patrinos, George P.;
Stöger, Reinhard;
Athanassiadou, Aglaia

Publication type:

Article

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.

Published in:

2010

By:

Nikopoulos, Konstantinos;
Venselaar, Hanka;
Collin, Rob W.J.;
Riveiro-Alvarez, Rosa;
Boonstra, F. Nienke;
Hooymans, Johanna M.M.;
Mukhopadhyay, Arijit;
Shears, Deborah;
van Bers, Marleen;
de Wijs, Ilse J.;
van Essen, Anthonie J.;
Sijmons, Rolf H.;
Tilanus, Mauk A.D.;
van Nouhuys, C. Erik;
Ayuso, Carmen;
Hoefsloot, Lies H.;
Cremers, Frans P.M.

Publication type:

Other

The Mutome and the 100,000 Mutation Milestone.

Published in:

Human Mutation, 2010, v. 31, n. 6, p. v, doi. 10.1002/humu.21290

By:

Cotton, Richard G.H.

Publication type:

Article

A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2.

Published in:

Human Mutation, 2010, v. 31, n. 6, p. 742, doi. 10.1002/humu.21254

By:

Bengesser, Kathrin;
Cooper, David N.;
Steinmann, Katharina;
Kluwe, Lan;
Chuzhanova, Nadia A.;
Wimmer, Katharina;
Tatagiba, Marcos;
Tinschert, Sigrid;
Mautner, Victor-Felix;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

An interactive web-tool for molecular analyses links naturally occurring mutation data with three-dimensional structures of the rhodopsin-like glycoprotein hormone receptors.

Published in:

2010

By:

Kleinau, Gunnar;
Kreuchwig, Annika;
Worth, Catherine L.;
Krause, Gerd

Publication type:

Other

Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia.

Published in:

Human Mutation, 2010, v. 31, n. 6, p. 752, doi. 10.1002/humu.21258

By:

Huijgen, Roeland;
Kindt, Iris;
Fouchier, Sigrid W.;
Defesche, Joep C.;
Hutten, Barbara A.;
Kastelein, John J.P.;
Vissers, Maud N.

Publication type:

Article

Are we overestimating the penetrance of mutations in SDHB?

Published in:

Human Mutation, 2010, v. 31, n. 6, p. 761, doi. 10.1002/humu.21269

By:

Schiavi, Francesca;
Milne, Roger L.;
Anda, Emma;
Blay, Pilar;
Castellano, Maurizio;
Opocher, Giuseppe;
Robledo, Mercedes;
Cascón, Alberto

Publication type:

Article

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics.

Published in:

Human Mutation, 2010, v. 31, n. 6, p. 631, doi. 10.1002/humu.21260

By:

Cooper, David N.;
Chen, Jian-Min;
Ball, Edward V.;
Howells, Katy;
Mort, Matthew;
Phillips, Andrew D.;
Chuzhanova, Nadia;
Krawczak, Michael;
Kehrer-Sawatzki, Hildegard;
Stenson, Peter D.

Publication type:

Article

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.

Published in:

Human Mutation, 2010, v. 31, n. 6, p. E1506, doi. 10.1002/humu.21271

By:

Pasmant, Eric;
Sabbagh, Audrey;
Spurlock, Gill;
Laurendeau, Ingrid;
Grillo, Elisa;
Hamel, Marie-José;
Martin, Ludovic;
Barbarot, Sébastien;
Leheup, Bruno;
Rodriguez, Diana;
Lacombe, Didier;
Dollfus, Hélène;
Pasquier, Laurent;
Isidor, Bertrand;
Ferkal, Salah;
Soulier, Jean;
Sanson, Marc;
Dieux-Coeslier, Anne;
Bièche, Ivan;
Parfait, Béatrice

Publication type:

Article

Performance of protein stability predictors.

Published in:

2010

By:

Khan, Sofia;
Vihinen, Mauno

Publication type:

Other

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.

Published in:

Human Mutation, 2010, v. 31, n. 6, p. 722, doi. 10.1002/humu.21253

By:

Zweier, Markus;
Gregor, Anne;
Zweier, Christiane;
Engels, Hartmut;
Sticht, Heinrich;
Wohlleber, Eva;
Bijlsma, Emilia K.;
Holder, Susan E.;
Zenker, Martin;
Rossier, Eva;
Grasshoff, Ute;
Johnson, Diana S.;
Robertson, Lisa;
Firth, Helen V.;
Cornelia Kraus;
Ekici, Arif B.;
Reis, André;
Rauch, Anita

Publication type:

Article

Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.

Published in:

Human Mutation, 2010, v. 31, n. 6, p. E1461, doi. 10.1002/humu.21257

By:

Richards, Allan J.;
McNinch, Annie;
Martin, Howard;
Oakhill, Kim;
Rai, Harjeet;
Waller, Sarah;
Treacy, Becky;
Whittaker, Joanne;
Meredith, Sarah;
Poulson, Arabella;
Snead, Martin P.

Publication type:

Article

Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL.

Published in:

Human Mutation, 2010, v. 31, n. 6, p. E1472, doi. 10.1002/humu.21268

By:

Nichols, Lorenzo L.;
Alur, Ramakrishna P.;
Boobalan, Elangovan;
Sergeev, Yuri V.;
Caruso, Rafael C.;
Stone, Edwin M.;
Swaroop, Anand;
Johnson, Mary A.;
Brooks, Brian P.

Publication type:

Article

The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer.

Published in:

Human Mutation, 2010, v. 31, n. 6, p. 623, doi. 10.1002/humu.21252

By:

Mannini, Linda;
Menga, Stefania;
Musio, Antonio

Publication type:

Article

Predicting functional significance of cancer-associated p16<sup>INK4a</sup> mutations in CDKN2A.

Published in:

Human Mutation, 2010, v. 31, n. 6, p. 692, doi. 10.1002/humu.21245

By:

McKenzie, Heather A.;
Fung, Carina;
Becker, Therese M.;
Irvine, Mal;
Mann, Graham J.;
Kefford, Richard F.;
Rizos, Helen

Publication type:

Article

Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.

Published in:

Human Mutation, 2010, v. 31, n. 6, p. E1445, doi. 10.1002/humu.21256

By:

Maga, Tara K.;
Nishimura, Carla J.;
Weaver, Amy E.;
Frees, Kathy L.;
Smith, Richard J.H.

Publication type:

Article

Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.

Published in:

Human Mutation, 2010, v. 31, n. 6, p. E1484, doi. 10.1002/humu.21267

By:

Walker, Logan C.;
Whiley, Phillip J.;
Couch, Fergus J.;
Farrugia, Daniel J.;
Healey, Sue;
Eccles, Diana M.;
Lin, Feng;
Butler, Samantha A.;
Goff, Sheila A.;
Thompson, Bryony A.;
Lakhani, Sunil R.;
Da Silva, Leonard M.;
Tavtigian, Sean V.;
Goldgar, David E.;
Brown, Melissa A.;
Spurdle, Amanda B.

Publication type:

Article

Heterozygous SOX9 Mutations Allowing for Residual DNA-binding and Transcriptional Activation Lead to the Acampomelic Variant of Campomelic Dysplasia.

Published in:

Human Mutation, 2010, v. 31, n. 6, p. E1436, doi. 10.1002/humu.21238

By:

Staffler, Alex;
Hammel, Markus;
Wahlbuhl, Mandy;
Bidlingmaier, Christoph;
Flemmer, Andreas W.;
Pagel, Philipp;
Nicolai, Thomas;
Wegner, Michael;
Holzinger, Andreas

Publication type:

Article