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

Results: 15

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
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
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
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
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
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
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
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
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
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