Works matching IS 10597794 AND DT 2010 AND VI 31 AND IP 3

Results: 23

Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

Published in:

Human Mutation, 2010, v. 31, n. 3, p. E1241, doi. 10.1002/humu.21203

By:

Perrault, Isabelle;
Hanein, Sylvain;
Gerard, Xavier;
Delphin, Nathalie;
Fares-Taie, Lucas;
Gerber, Sylvie;
Pelletier, Valérie;
Mercé, Emilie;
Dollfus, Hélène;
Puech, Bernard;
Defoort-Dhellemmes, Sabine;
Petersen, Michael D;
Zafeiriou, Dimitrios;
Munnich, Arnold;
Kaplan, Josseline;
Roche, Olivier;
Rozet, Jean-Michel

Publication type:

Article

Cell-free assay breakthrough for MLH1 variants.

Published in:

Human Mutation, 2010, v. 31, n. 3, p. v, doi. 10.1002/humu.21217

By:

Hofstra, Robert M.W.;
Sijmons, Rolf H.

Publication type:

Article

Syndrome to gene (S2G): in-silico identification of candidate genes for human diseases.

Published in:

2010

By:

Gefen, Avitan;
Cohen, Raphael;
Birk, Ohad S.

Publication type:

Other

Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.

Published in:

Human Mutation, 2010, v. 31, n. 3, p. 279, doi. 10.1002/humu.21186

By:

Kranendijk, Martijn;
Struys, Eduard A.;
Gibson, K. Michael;
Wickenhagen, Wjera V.;
Abdenur, Jose E.;
Buechner, Jochen;
Christensen, Ernst;
de Kremer, Raquel Dodelson;
Errami, Abdellatif;
Gissen, Paul;
Gradowska, Wanda;
Hobson, Emma;
Islam, Lily;
Korman, Stanley H.;
Kurczynski, Thaddeus;
Maranda, Bruno;
Meli, Concetta;
Rizzo, Cristiano;
Sansaricq, Claude;
Trefz, Friedrich K.

Publication type:

Article

Inferring the functional effects of mutation through clusters of mutations in homologous proteins.

Published in:

Human Mutation, 2010, v. 31, n. 3, p. 264, doi. 10.1002/humu.21194

By:

Yue, Peng;
Forrest, William F.;
Kaminker, Joshua S.;
Lohr, Scott;
Zhang, Zemin;
Cavet, Guy

Publication type:

Article

The Human Variome Project (HVP) 2009 Forum 'Towards Establishing Standards'.

Published in:

Human Mutation, 2010, v. 31, n. 3, p. 366, doi. 10.1002/humu.21175

By:

Howard, Heather J.;
Horaitis, Ourania;
Cotton, Richard G.H.;
Vihinen, Mauno;
Dalgleish, Raymond;
Robinson, Peter;
Brookes, Anthony J.;
Axton, Myles;
Hoffmann, Robert;
Tuffery-Giraud, Sylvie

Publication type:

Article

CanProVar: a human cancer proteome variation database.

Published in:

2010

By:

Li, Jing;
Duncan, Dexter T.;
Zhang, Bing

Publication type:

Other

Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.

Published in:

Human Mutation, 2010, v. 31, n. 3, p. 284, doi. 10.1002/humu.21187

By:

Kobayashi, Tomoko;
Aoki, Yoko;
Niihori, Tetsuya;
Cavé, Hélène;
Verloes, Alain;
Okamoto, Nobuhiko;
Kawame, Hiroshi;
Fujiwara, Ikuma;
Takada, Fumio;
Ohata, Takako;
Sakazume, Satoru;
Ando, Tatsuya;
Nakagawa, Noriko;
Lapunzina, Pablo;
Meneses, Antonio G.;
Gillessen-Kaesbach, Gabriele;
Wieczorek, Dagmar;
Kurosawa, Kenji;
Mizuno, Seiji;
Ohashi, Hirofumi

Publication type:

Article

Segregation of non-p.R132H mutations in IDH1 in distinct molecular subtypes of glioma.

Published in:

Human Mutation, 2010, v. 31, n. 3, p. E1186, doi. 10.1002/humu.21201

By:

Gravendeel, Lonneke A.M.;
Kloosterhof, Nanne K.;
Bralten, Linda B.C.;
van Marion, Ronald;
Dubbink, Hendrikus Jan;
Dinjens, Winand;
Bleeker, Fonnet E.;
Hoogenraad, Casper C.;
Michiels, Erna;
Kros, Johan M.;
van den Bent, Martin;
Smitt, Peter A.E. Sillevis;
French, Pim J

Publication type:

Article

A matrilin-3 mutation associated with osteoarthritis does not affect collagen affinity but promotes the formation of wider cartilage collagen fibrils.

Published in:

Human Mutation, 2010, v. 31, n. 3, p. 254, doi. 10.1002/humu.21182

By:

Otten, Christiane;
Hansen, Uwe;
Talke, Anja;
Wagener, Raimund;
Paulsson, Mats;
Zaucke, Frank

Publication type:

Article

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes.

Published in:

Human Mutation, 2010, v. 31, n. 3, p. 347, doi. 10.1002/humu.21193

By:

Le Guédard-Méreuze, Sandie;
Vaché, Christel;
Baux, David;
Faugère, Valérie;
Larrieu, Lise;
Abadie, Caroline;
Janecke, Andreas;
Claustres, Mireille;
Roux, Anne-Françoise;
Tuffery-Giraud, Sylvie

Publication type:

Article

A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.

Published in:

Human Mutation, 2010, v. 31, n. 3, p. 247, doi. 10.1002/humu.21180

By:

Drost, Mark;
Zonneveld, Jos é B.M.;
van Dijk, Linda;
Morreau, Hans;
Tops, Carli M.;
Vasen, Hans F.A.;
Wijnen, Juul T.;
de Wind, Niels

Publication type:

Article

αIIbβ3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.

Published in:

Human Mutation, 2010, v. 31, n. 3, p. 237, doi. 10.1002/humu.21179

By:

Jallu, Vincent;
Dusseaux, Mathilde;
Panzer, Simon;
Torchet, Marie-Françoise;
Hezard, Nathalie;
Goudemand, Jenny;
de Brevern, Alexandre G.;
Kaplan, Cécile

Publication type:

Article

Extended runs of homozygosity at 17q11.2: an association with type-2 NF1 deletions?

Published in:

Human Mutation, 2010, v. 31, n. 3, p. 325, doi. 10.1002/humu.21191

By:

Roehl, Angelika C.;
Cooper, David N.;
Kluwe, Lan;
Helbrich, Andreas;
Wimmer, Katharina;
Högel, Josef;
Mautner, Victor-Felix;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

Published in:

Human Mutation, 2010, v. 31, n. 3, p. E1200, doi. 10.1002/humu.21202

By:

Borg, Åke;
Haile, Robert W.;
Malone, Kathleen E.;
Capanu, Marinela;
Diep, Ahn;
Törngren, Therese;
Teraoka, Sharon;
Begg, Colin B.;
Thomas, Duncan C.;
Concannon, Patrick;
Mellemkjaer, Lene;
Bernstein, Leslie;
Tellhed, Lina;
Xue, Shanyan;
Olson, Eric R.;
Liang, Xiaolin;
Dolle, Jessica;
Børresen-Dale, Anne-Lise;
Bernstein, Jonine L.

Publication type:

Article

Cancer predisposing missense and protein truncating BARD1 mutations in non- BRCA1 or BRCA2 breast cancer families.

Published in:

Human Mutation, 2010, v. 31, n. 3, p. E1175, doi. 10.1002/humu.21200

By:

De Brakeleer, Sylvia;
De Grève, Jacques;
Loris, Remy;
Janin, Nicolas;
Lissens, Willy;
Sermijn, Erica;
Teugels, Erik

Publication type:

Article

In silico functional profiling of human disease-associated and polymorphic amino acid substitutions.

Published in:

Human Mutation, 2010, v. 31, n. 3, p. 335, doi. 10.1002/humu.21192

By:

Mort, Matthew;
Evani, Uday S.;
Krishnan, Vidhya G.;
Kamati, Kishore K.;
Baenziger, Peter H.;
Bagchi, Angshuman;
Peters, Brandon J.;
Sathyesh, Rakesh;
Li, Biao;
Sun, Yanan;
Xue, Bin;
Shah, Nigam H.;
Kann, Maricel G.;
Cooper, David N.;
Radivojac, Predrag;
Mooney, Sean D.

Publication type:

Article

A haplotype of the catalase gene confers an increased risk of essential hypertension in Chinese Han.

Published in:

Human Mutation, 2010, v. 31, n. 3, p. 272, doi. 10.1002/humu.21185

By:

Wang, Zhimin;
Li, Yanping;
Wang, Beilan;
He, Yungang;
Wang, Yi;
Xi, Huifeng;
Li, Yifeng;
Wang, Ying;
Zhu, Dingliang;
Jin, Jianzhong;
Huang, Wei;
Jin, Li

Publication type:

Article

Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex.

Published in:

Human Mutation, 2010, v. 31, n. 3, p. 308, doi. 10.1002/humu.21189

By:

Natsuga, Ken;
Nishie, Wataru;
Akiyama, Masashi;
Nakamura, Hideki;
Shinkuma, Satoru;
McMillan, James R.;
Nagasaki, Akari;
Has, Cristina;
Ouchi, Takeshi;
Ishiko, Akira;
Hirako, Yoshiaki;
Owaribe, Katsushi;
Sawamura, Daisuke;
Bruckner-Tuderman, Leena;
Shimizu, Hiroshi

Publication type:

Article

The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations.

Published in:

Human Mutation, 2010, v. 31, n. 3, p. 356, doi. 10.1002/humu.21195

By:

Schmiedt, Mia-Lisa;
Bessa, Carlos;
Heine, Claudia;
Ribeiro, Maria Gil;
Jalanko, Anu;
Kyttälä, Aija

Publication type:

Article

Mutation clusters offer insight into predicting pathogenicity.

Published in:

Human Mutation, 2010, v. 31, n. 3, p. v, doi. 10.1002/humu.21218

By:

Greenblatt, Marc S.

Publication type:

Article

Cell division cycle protein 73 homolog ( CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors.

Published in:

2010

By:

Newey, Paul J.;
Bowl, Michael R.;
Cranston, Treena;
Thakker, Rajesh V.

Publication type:

Other

Microsatellite instability in the peripheral blood leukocytes of HNPCC patients.

Published in:

Human Mutation, 2010, v. 31, n. 3, p. 317, doi. 10.1002/humu.21190

By:

Coolbaugh-Murphy, Mary I.;
Xu, Jing-Ping;
Ramagli, Louis S.;
Ramagli, Brian C.;
Brown, Barry W.;
Lynch, Patrick M.;
Hamilton, Stanley R.;
Frazier, Marsha L.;
Siciliano, Michael J.

Publication type:

Article