Works matching AU Jacquot, Sylvie

Results: 9

X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90[suprsk2], RSK2, ISPK, MAPKAP1).

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 1, p. 2, doi. 10.1038/sj.ejhg.5200738

By:

Jacquot, Sylvie;
Zeniou, Maria;
touraine, Renaud;
Hanauer, Andr&eacute

Publication type:

Article

Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS).

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 1, p. 20, doi. 10.1038/sj.ejhg.5200231

By:

Abidi, Fatima;
Jacquot, Sylvie;
Lassiter, Christopher;
Trivier, Elizabeth;
Hanauer, André;
Schwartz, Charles E

Publication type:

Article

Germline mosaicism in Coffin-Lowry syndrome.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 6, p. 578, doi. 10.1038/sj.ejhg.5200230

By:

Jacquot, Sylvie;
Merienne, Karine;
Pannetier, Solange;
Blumenfeld, Sandra;
Schinzel, Albert;
Hanauer, André

Publication type:

Article

A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation.

Published in:

Nature Genetics, 1999, v. 22, n. 1, p. 13, doi. 10.1038/8719

By:

Merienne, Karine;
Jacquot, Sylvie;
Pannetier, Solange;
Zeniou, Maria;
Bankier, Agnes;
Gecz, Jozef;
Mandel, Jean-Louis;
Mulley, John;
Sassone-Corsi, Paolo;
Hanauer, André

Publication type:

Article

Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics.

Published in:

Nature Genetics, 2015, v. 47, n. 9, p. 969, doi. 10.1038/ng.3360

By:

Ayadi, Abdel;
Becker, Lore;
Dalloneau, Emilie;
Jacquot, Sylvie;
Lalanne, Valerie;
le Marchand, Elise;
Puk, Oliver;
Zimprich, Annemarie;
Melvin, David G;
Morgan, Hugh;
Cox, Roger;
Emelyanova, Irina;
Gates, Hilary;
Westerberg, Henrik;
Busch, Dirk H;
Pellegata, Natalia S;
Yildirim, Ali Önder;
Aguilar-Pimentel, Antonio;
Chevalier, Claire;
Combe, Roy

Publication type:

Article

Mutations in the X-linked RSK2 gene ( RPS6KA3) in patients with Coffin-Lowry syndrome.

Published in:

Human Mutation, 2001, v. 17, n. 2, p. 103, doi. 10.1002/1098-1004(200102)17:2<103::AID-HUMU2>3.0.CO;2-N

By:

Delaunoy, Jean-Pierre;
Abidi, Fatima;
Zeniou, Maria;
Jacquot, Sylvie;
Merienne, Karine;
Pannetier, Solange;
Schmitt, Michèle;
Schwartz, Charles E.;
Hanauer, André

Publication type:

Article

Activation of RSK by UV-light: phosphorylation dynamics and involvement of the MAPK pathway.

Published in:

Oncogene, 2000, v. 19, n. 37, p. 4221

By:

Mérienne, Karine;
Jacquot, Sylvie;
Zeniou, Maria;
Pannetier, Solange;
Sassone-Corsi, Paolo;
Hanauer, André

Publication type:

Article

Highly-efficient, fluorescent, locus directed cre and FlpO deleter mice on a pure C57BL/6N genetic background.

Published in:

Genesis: The Journal of Genetics & Development, 2012, v. 50, n. 6, p. 482, doi. 10.1002/dvg.20826

By:

Birling, Marie-Christine;
Dierich, Andrée;
Jacquot, Sylvie;
Hérault, Yann;
Pavlovic, Guillaume

Publication type:

Article

Blastocyst genotyping for quality control of mouse mutant archives: an ethical and economical approach.

Published in:

Transgenic Research, 2015, v. 24, n. 5, p. 921, doi. 10.1007/s11248-015-9897-1

By:

Scavizzi, Ferdinando;
Ryder, Edward;
Newman, Stuart;
Raspa, Marcello;
Gleeson, Diane;
Wardle-Jones, Hannah;
Montoliu, Lluis;
Fernandez, Almudena;
Dessain, Marie-Laure;
Larrigaldie, Vanessa;
Khorshidi, Zuzana;
Vuolteenaho, Reetta;
Soininen, Raija;
André, Philippe;
Jacquot, Sylvie;
Hong, Yi;
Angelis, Martin;
Ramirez-Solis, Ramiro;
Doe, Brendan

Publication type:

Article