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Author/Creator Vovan, Catherine

1. Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy. Issue 9 (22nd April 2019)

Authors:
Nguyen, Karine; Broucqsault, Natacha; Chaix, Charlene; Roche, Stephane; Robin, Jérôme D; Vovan, Catherine; Gerard, Laurene; Mégarbané, André; Urtizberea, Jon Andoni; Bellance, Remi; Barnérias, Christine; David, Albert; Eymard, Bruno; Fradin, Melanie; Manel, Véronique; Sacconi, Sabrina; Tiffreau, ...
Journal:
Journal of medical genetics
Issue:
Volume 56:Issue 9(2019)
Page Start:
590
Record Type:
Journal Article
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2. Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy‐Like Phenotype. Issue 4 (19th March 2015)

Authors:
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; L...
Journal:
Human mutation
Issue:
Volume 36:Issue 4(2015:Apr.)
Page Start:
443
Record Type:
Journal Article
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3. Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome. Issue 8 (28th July 2018)

Authors:
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
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 8(2018)
Page Start:
1760
Record Type:
Journal Article
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4. Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy. Issue 10 (6th August 2017)

Authors:
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
Journal:
Human mutation
Issue:
Volume 38:Issue 10(2017)
Page Start:
1432
Record Type:
Journal Article
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5. Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report. Issue 1 (December 2016)

Authors:
Gaillard, Marie-Cécile; Puppo, Francesca; Roche, Stéphane; Dion, Camille; Campana, Emmanuelle; Mariot, Virginie; Chaix, Charlene; Vovan, Catherine; Mazaleyrat, Killian; Tasmadjian, Armand; Bernard, Rafaelle; Dumonceaux, Julie; Attarian, Shahram; Lévy, Nicolas; Nguyen, Karine; Magdinier, Frédériqu...
Journal:
BMC medical genetics
Issue:
Volume 17:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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