Works matching IS 10597794 AND DT 2009 AND VI 30 AND IP 9

Results: 23

Copy-number variations (CNVs) of the human sex steroid metabolizing genes UGT2B17 and UGT2B28 and their associations with a UGT2B15 functional polymorphism.

Published in:

Human Mutation, 2009, v. 30, n. 9, p. 1310, doi. 10.1002/humu.21054

By:

Ménard, Vincent;
Eap, Olivier;
Harvey, Mario;
Guillemette, Chantal;
Lévesque, Éric

Publication type:

Article

A survey of ABCA1 sequence variation confirms association with dementia.

Published in:

Human Mutation, 2009, v. 30, n. 9, p. 1348, doi. 10.1002/humu.21076

By:

Reynolds, Chandra A.;
Hong, Mun-Gwan;
Eriksson, Ulrika K.;
Blennow, Kaj;
Bennet, Anna M.;
Johansson, Boo;
Malmberg, Bo;
Berg, Stig;
Wiklund, Fredrik;
Gatz, Margaret;
Pedersen, Nancy L.;
Prince, Jonathan A.

Publication type:

Article

Extremely low risk of pheochromocytomas in complete VHL gene deletion cases.

Published in:

Human Mutation, 2009, v. 30, n. 9, p. 1365, doi. 10.1002/humu.21050

By:

Janavičius, Ramūnas;
Adomaitis, Robertas;
Jankevičius, Feliksas;
Griškevičius, Laimonas

Publication type:

Article

Toward the ideal 'Mutation Update' and 'Locus Specific Database' for disease genes.

Published in:

Human Mutation, 2009, v. 30, n. 9, p. v, doi. 10.1002/humu.21102

By:

Cotton, Richard G.H.

Publication type:

Article

A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism.

Published in:

Human Mutation, 2009, v. 30, n. 9, p. E855, doi. 10.1002/humu.21072

By:

Qiao, Jie;
Han, Bing;
Liu, Bing-Li;
Chen, Xia;
Ru, Ying;
Cheng, Kai-Xiang;
Chen, Fu-Guo;
Zhao, Shuang-Xia;
Liang, Jun;
Lu, Ying-Li;
Tang, Jin-Feng;
Wu, Yi-Xin;
Wu, Wan-Ling;
Chen, Jia-Lun;
Chen, Ming-Dao;
Song, Huai-Dong

Publication type:

Article

Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls.

Published in:

Human Mutation, 2009, v. 30, n. 9, p. E866, doi. 10.1002/humu.21073

By:

Makrythanasis, Periklis;
Kapranov, Philipp;
Bartoloni, Lucia;
Reymond, Alexandre;
Deutsch, Samuel;
Guigó, Roderic;
Denoeud, France;
Drenkow, Jorg;
Rossier, Colette;
Ariani, Francesca;
Capra, Valeria;
Excoffier, Laurent;
Renieri, Alessandra;
Gingeras, Thomas R;
Antonarakis, Stylianos E

Publication type:

Article

Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.

Published in:

Human Mutation, 2009, v. 30, n. 9, p. 1292, doi. 10.1002/humu.21077

By:

Bianchi, Paola;
Fermo, Elisa;
Vercellati, Cristina;
Boschetti, Carla;
Barcellini, Wilma;
Iurlo, Alessandra;
Marcello, Anna Paola;
Righetti, Pier Giorgio;
Zanella, Alberto

Publication type:

Article

Mutations and polymorphisms of the skeletal muscle α-actin gene ( ACTA1).

Published in:

2009

By:

Laing, Nigel G.;
Dye, Danielle E.;
Wallgren-Pettersson, Carina;
Richard, Gabriele;
Monnier, Nicole;
Lillis, Suzanne;
Winder, Thomas L.;
Lochmüller, Hanns;
Graziano, Claudio;
Mitrani-Rosenbaum, Stella;
Twomey, Darren;
Sparrow, John C.;
Beggs, Alan H.;
Nowak, Kristen J.

Publication type:

Other

Deletions in the VPS13B ( COH1) gene as a cause of Cohen syndrome.

Published in:

Human Mutation, 2009, v. 30, n. 9, p. E845, doi. 10.1002/humu.21065

By:

Balikova, I.;
Lehesjoki, A-E.;
de Ravel, T.J.L.;
Thienpont, B.;
Chandler, K.E.;
Clayton-Smith, J.;
Träskelin, A-L.;
Fryns, J-P.;
Vermeesch, J.R.

Publication type:

Article

Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes.

Published in:

Human Mutation, 2009, v. 30, n. 9, p. 1355, doi. 10.1002/humu.21058

By:

Magyar, István;
Colman, Dvora;
Arnold, Eliane;
Baumgartner, Daniela;
Bottani, Armand;
Fokstuen, Siv;
Addor, Marie-Claude;
Berger, Wolfgang;
Carrel, Thierry;
Steinmann, Beat;
Mátyás, Gábor

Publication type:

Article

Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with incontinentia pigmenti.

Published in:

Human Mutation, 2009, v. 30, n. 9, p. 1284, doi. 10.1002/humu.21069

By:

Francesca, Fusco;
Mariateresa, Paciolla;
Alessandra, Pescatore;
Brigida, Lioi Maria;
Carmen, Ayuso;
Francesca, Faravelli;
Mattia, Gentile;
Marcella, Zollino;
Michele, D'Urso;
Giuseppina, Miano Maria;
Valeria, Ursini Matilde

Publication type:

Article

Functional FEN1 polymorphisms are associated with DNA damage levels and lung cancer risk.

Published in:

Human Mutation, 2009, v. 30, n. 9, p. 1320, doi. 10.1002/humu.21060

By:

Yang, Ming;
Guo, Huan;
Wu, Chen;
He, Yuefeng;
Yu, Dianke;
Zhou, Li;
Wang, Fang;
Xu, Jian;
Tan, Wen;
Wang, Guanghai;
Shen, Binghui;
Yuan, Jing;
Wu, Tangchun;
Lin, Dongxin

Publication type:

Article

A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance.

Published in:

Human Mutation, 2009, v. 30, n. 9, p. 1340, doi. 10.1002/humu.21071

By:

Frio, Thomas Rio;
McGee, Terri L.;
Wade, Nicholas M.;
Iseli, Christian;
Beckmann, Jacques S.;
Berson, Eliot L.;
Rivolta, Carlo

Publication type:

Article

A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Published in:

2009

By:

van der Zwaag, Paul A.;
Jongbloed, Jan D.H.;
van den Berg, Maarten P.;
van der Smagt, Jasper J.;
Jongbloed, Roselie;
Bikker, Hennie;
Hofstra, Robert M.W.;
van Tintelen, J. Peter

Publication type:

Other

The folliculin mutation database: An online database of mutations associated with Birt-Hogg-Dubé syndrome.

Published in:

2009

By:

Wei, Ming-Hui;
Blake, Patrick W.;
Shevchenko, Julia;
Toro, Jorge R.

Publication type:

Other

SNP-chips versus CNV patterns: Thinking outside the box.

Published in:

Human Mutation, 2009, v. 30, n. 9, p. v, doi. 10.1002/humu.21104

By:

Nebert, Daniel W.

Publication type:

Article

Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sites.

Published in:

Human Mutation, 2009, v. 30, n. 9, p. 1329, doi. 10.1002/humu.21070

By:

Guédard-Méreuze, Sandie Le;
Vaché, Christel;
Molinari, Nicolas;
Vaudaine, Julie;
Claustres, Mireille;
Roux, Anne-Françoise;
Tuffery-Giraud, Sylvie

Publication type:

Article

Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H.

Published in:

Human Mutation, 2009, v. 30, n. 9, p. E831, doi. 10.1002/humu.21063

By:

Borg, Kristian;
Stucka, Rolf;
Locke, Matthew;
Melin, Eva;
Åhlberg, Gabrielle;
Klutzny, Ursula;
Hagen, Maja von der;
Huebner, Angela;
Lochmüller, Hanns;
Wrogemann, Klaus;
Thornell, Lars-Eric;
Blake, Derek J.;
Schoser, Benedikt

Publication type:

Article

Measurement of admixture proportions and description of admixture structure in different U.S. populations.

Published in:

Human Mutation, 2009, v. 30, n. 9, p. 1299, doi. 10.1002/humu.21045

By:

Halder, Indrani;
Yang, Bao-Zhu;
Kranzler, Henry R.;
Stein, Murray B.;
Shriver, Mark D.;
Gelernter, Joel

Publication type:

Article

Molecular pathology of the fibroblast growth factor family.

Published in:

Human Mutation, 2009, v. 30, n. 9, p. 1245, doi. 10.1002/humu.21067

By:

Krejci, Pavel;
Prochazkova, Jirina;
Bryja, Vitezslav;
Kozubik, Alois;
Wilcox, William R.

Publication type:

Article

Response to: Extremely low risk of pheochromocytomas in complete VHL gene deletion cases.

Published in:

Human Mutation, 2009, v. 30, n. 9, p. 1367, doi. 10.1002/humu.21049

By:

Franke, Gerlind;
Scherer, Gerd;
Neumann, Hartmut P.H.

Publication type:

Article

Defective protein trafficking: From craniofacial disease to congenital dyserythropoietic anemia.

Published in:

Human Mutation, 2009, v. 30, n. 9, p. v, doi. 10.1002/humu.21103

By:

Ottolenghi, Sergio

Publication type:

Article

The genetic basis of Brugada syndrome: A mutation update.

Published in:

2009

By:

Hedley, Paula L.;
Jørgensen, Poul;
Schlamowitz, Sarah;
Moolman-Smook, Johanna;
Kanters, Jørgen K.;
Corfield, Valerie A.;
Christiansen, Michael

Publication type:

Other