OpenURL Connection Search

Select item for more details and to access through your institution.

Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1760, doi. 10.1002/ajmg.a.38843
By:
- Renard, Dimitri;
- Taieb, Guillaume;
- Garibaldi, Matteo;
- Maues De Paula, Andre;
- Bernard, Rafaelle;
- Lagha, Nadira;
- Cristofari, Gael;
- Vovan, Catherine;
- Chaix, Charlène;
- Lévy, Nicolas;
- Khau Van Kien, Philippe;
- Sacconi, Sabrina
Publication type:
Article
Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo- Humeral Dystrophy: a case report.
Published in:
BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0328-9
By:
- Gaillard, Marie-Cécile;
- Puppo, Francesca;
- Roche, Stéphane;
- Dion, Camille;
- Campana, Emmanuelle Salort;
- Mariot, Virginie;
- Chaix, Charlene;
- Vovan, Catherine;
- Mazaleyrat, Killian;
- Tasmadjian, Armand;
- Bernard, Rafaelle;
- Dumonceaux, Julie;
- Attarian, Shahram;
- Lévy, Nicolas;
- Nguyen, Karine;
- Magdinier, Frédérique;
- Bartoli, Marc
Publication type:
Article
New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 5, p. 533, doi. 10.1038/ejhg.2009.207
By:
- Barat-Houari, Mouna;
- Nguyen, Karine;
- Bernard, Rafaëlle;
- Fernandez, Céline;
- Vovan, Catherine;
- Bareil, Corinne;
- Van Kien, Philippe Khau;
- Thorel, Delphine;
- Tuffery-Giraud, Sylvie;
- Vasseur, Francis;
- Attarian, Shahram;
- Pouget, Jean;
- Girardet, Anne;
- Lévy, Nicolas;
- Claustres, Mireille
Publication type:
Article
Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.
Published in:
Human Mutation, 2017, v. 38, n. 10, p. 1432, doi. 10.1002/humu.23304
By:
- Nguyen, Karine;
- Puppo, Francesca;
- Roche, Stéphane;
- Gaillard, Marie‐Cécile;
- Chaix, Charlène;
- Lagarde, Arnaud;
- Pierret, Marjorie;
- Vovan, Catherine;
- Olschwang, Sylviane;
- Salort‐Campana, Emmanuelle;
- Attarian, Shahram;
- Bartoli, Marc;
- Bernard, Rafaëlle;
- Magdinier, Frédérique;
- Levy, Nicolas
Publication type:
Article
Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype.
Published in:
Human Mutation, 2015, v. 36, n. 4, p. 443, doi. 10.1002/humu.22760
By:
- Puppo, Francesca;
- Dionnet, Eugenie;
- Gaillard, Marie‐Cécile;
- Gaildrat, Pascaline;
- Castro, Christel;
- Vovan, Catherine;
- Bertaux, Karine;
- Bernard, Rafaelle;
- Attarian, Shahram;
- Goto, Kanako;
- Nishino, Ichizo;
- Hayashi, Yukiko;
- Magdinier, Frédérique;
- Krahn, Martin;
- Helmbacher, Françoise;
- Bartoli, Marc;
- Lévy, Nicolas
Publication type:
Article

Found: 5

Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome.

Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo- Humeral Dystrophy: a case report.

New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?

Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.

Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype.