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Mutation in the 5'alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 2, p. 176, doi. 10.1038/sj.ejhg.5201303
By:
- Abidi, Fatima E.;
- Cardoso, Carlos;
- Lossi, Anne-Marie;
- Lowry, Robert Brian;
- Depetris, Danielle;
- Mattéi, Marie-Geneviève;
- Lubs, Herbert A.;
- Stevenson, Roger E.;
- Fontes, Michel;
- Chudley, Albert E.;
- Schwartz, Charles E.
Publication type:
Article
Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C.
Published in:
BMC Medical Genomics, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8794-6-1
By:
- Grafodatskaya, Daria;
- Chung, Barian H. Y.;
- Butcher, Darci T.;
- Turinsky, Andrei L.;
- Goodman, Sarah J.;
- Choufani, Sana;
- Yi-An Chen;
- Youliang Lou;
- Chunhua Zhao;
- Rajendram, Rageen;
- Abidi, Fatima E.;
- Skinner, Cindy;
- Stavropoulos, James;
- Bondy, Carolyn A.;
- Hamilton, Jill;
- Wodak, Shoshana;
- Scherer, Stephen W.;
- Schwartz, Charles E.;
- Weksberg, Rosanna
Publication type:
Article
A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor.
Published in:
Human Molecular Genetics, 2005, v. 14, n. 8, p. 1019, doi. 10.1093/hmg/ddi094
By:
- Ramser, Juliane;
- Abidi, Fatima E.;
- Burckle, Celine A.;
- Lenski, Claus;
- Toriello, Helga;
- Wen, Gaiping;
- Lubs, Herbert A.;
- Engert, Stefanie;
- Stevenson, Roger E.;
- Meindl, Alfons;
- Schwartz, Charles E.;
- Nguyen, Genevieve
Publication type:
Article

Found: 3

Mutation in the 5'alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.

Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C.

A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor.