Works matching IS 10597794 AND DT 2006 AND VI 27 AND IP 4

Results: 15

Apolipoprotein (APOE) gene is associated with progression of age-related macular degeneration (AMD).

Published in:

Human Mutation, 2006, v. 27, n. 4, p. 337, doi. 10.1002/humu.20288

By:

Baird, Paul N.;
Richardson, Andrea J.;
Robman, Luba D.;
Dimitrov, Peter N.;
Tikellis, Gabriella;
McCarty, Catherine A.;
Guymer, Robyn H.

Publication type:

Article

dbRIP: A highly integrated database of retrotransposon insertion polymorphisms in humans.

Published in:

2006

By:

Wang, Jianxin;
Song, Lei;
Grover, Deepak;
Azrak, Sami;
Batzer, Mark A.;
Liang, Ping

Publication type:

Other

The distribution of constitutional and somatic mutations in the neurofibromatosis 2 gene.

Published in:

Human Mutation, 2006, v. 27, n. 4, p. 297, doi. 10.1002/humu.20317

By:

Baser, Michael E.

Publication type:

Article

Functional polymorphism in ALOX15 results in increased allele-specific transcription in macrophages through binding of the transcription factor SPI1.

Published in:

Human Mutation, 2006, v. 27, n. 4, p. 387, doi. 10.1002/humu.20328

By:

Wittwer, Jonas;
Marti-Jaun, Jacqueline;
Hersberger, Martin

Publication type:

Article

Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy.

Published in:

Human Mutation, 2006, v. 27, n. 4, p. 389, doi. 10.1002/humu.9419

By:

Depienne, Christel;
Arzimanoglou, Alexis;
Trouillard, Oriane;
Fedirko, Estelle;
Baulac, Stéphanie;
Saint-Martin, Cécile;
Ruberg, Merle;
Dravet, Charlotte;
Nabbout, Rima;
Baulac, Michel;
Gourfinkel-An, Isabelle;
Leguern, Eric

Publication type:

Article

DLG5 variants contribute to Crohn disease risk in a Canadian population.

Published in:

Human Mutation, 2006, v. 27, n. 4, p. 353, doi. 10.1002/humu.20301

By:

Newman, William G.;
Gu, Xiangjun;
Wintle, Richard F.;
Liu, Xiangdong;
van Oene, Mark;
Amos, Christopher I.;
Siminovitch, Katherine A.

Publication type:

Article

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.

Published in:

Human Mutation, 2006, v. 27, n. 4, p. 389, doi. 10.1002/humu.9420

By:

Tzschach, Andreas;
Lenzner, Steffen;
Moser, Bettina;
Reinhardt, Richard;
Chelly, Jamel;
Fryns, Jean-Pierre;
Kleefstra, Tjitske;
Raynaud, Martine;
Turner, Gillian;
Ropers, Hans-Hilger;
Kuss, Andreas;
Jensen, Lars Riff

Publication type:

Article

Determination of genomic copy number with quantitative microsphere hybridization.

Published in:

2006

By:

Newkirk, Heather L.;
Rogan, Peter K.;
Miralles, Mauricio;
Knoll, Joan H.M.

Publication type:

Other

Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome.

Published in:

Human Mutation, 2006, v. 27, n. 4, p. 388, doi. 10.1002/humu.9418

By:

Ballester, Leomar Y.;
Benson, D. Woodrow;
Wong, Brenda;
Law, Ian H.;
Mathews, Katherine D.;
Vanoye, Carlos G.;
George, Alfred L.

Publication type:

Article

Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure-function correlations of αIIb β3 integrin ( ITGA2B, ITGB3).

Published in:

Human Mutation, 2006, v. 27, n. 4, p. 359, doi. 10.1002/humu.20304

By:

Peretz, Hava;
Rosenberg, Nurit;
Landau, Meytal;
Usher, Saly;
Nelson, Everette J.R.;
Mor-Cohen, Ronit;
French, Deborah L.;
Mitchell, Beau W.;
Nair, Sukesh C.;
Chandy, Mammen;
Coller, Barry S.;
Srivastava, Alok;
Seligsohn, Uri

Publication type:

Article

Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.

Published in:

Human Mutation, 2006, v. 27, n. 4, p. 343, doi. 10.1002/humu.20293

By:

Kure, Shigeo;
Kato, Kumi;
Dinopoulos, Agirios;
Gail, Chuck;
deGrauw, Ton J.;
Christodoulou, John;
Bzduch, Vladimir;
Kalmanchey, Rozalia;
Fekete, Gyorgy;
Trojovsky, Alex;
Plecko, Barbara;
Breningstall, Galen;
Tohyama, Jun;
Aoki, Yoko;
Matsubara, Yoichi

Publication type:

Article

Present status of outcome prediction of invasive coronary treatment by using genetic markers.

Published in:

Human Mutation, 2006, v. 27, n. 4, p. 307, doi. 10.1002/humu.20305

By:

Völzke, Henry;
Rettig, Rainer

Publication type:

Article

Mechanisms of the interaction between two ADAMTS13 gene mutations leading to severe deficiency of enzymatic activity.

Published in:

Human Mutation, 2006, v. 27, n. 4, p. 330, doi. 10.1002/humu.20267

By:

Peyvandi, Flora;
Lavoretano, Silvia;
Palla, Roberta;
Valsecchi, Carla;
Merati, Giuliana;
De Cristofaro, Raimondo;
Rossi, Edoardo;
Mannuccio Mannucci, Pier

Publication type:

Article

Distinct patterns of germ-line deletions in MLH1 and MSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC).

Published in:

Human Mutation, 2006, v. 27, n. 4, p. 388, doi. 10.1002/humu.9417

By:

Li, Lili;
McVety, Susan;
Younan, Rami;
Liang, Ping;
Du Sart, Desirée;
Gordon, Philip H.;
Hutter, Pierre;
Hogervorst, Frans B.L.;
Chong, George;
Foulkes, William D.

Publication type:

Article

A second-site mutation in the initiation codon of WAS ( WASP) results in expansion of subsets of lymphocytes in an Wiskott-Aldrich syndrome patient.

Published in:

Human Mutation, 2006, v. 27, n. 4, p. 370, doi. 10.1002/humu.20308

By:

Du, Wei;
Kumaki, Satoru;
Uchiyama, Toru;
Yachie, Akihiro;
Yeng Looi, Chung;
Kawai, Shin;
Minegishi, Masayoshi;
Ramesh, Narayanaswamy;
Geha, Raif S.;
Sasahara, Yoji;
Tsuchiya, Shigeru

Publication type:

Article