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Author/Creator Brunelle, Perrine

1. Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations. Issue 1 (December 2015)

Authors:
Mercier, Sandra; Küry, Sébastien; Salort-Campana, Emmanuelle; Magot, Armelle; Agbim, Uchenna; Besnard, Thomas; Bodak, Nathalie; Bou-Hanna, Chantal; Bréhéret, Flora; Brunelle, Perrine; Caillon, Florence; Chabrol, Brigitte; Cormier-Daire, Valérie; David, Albert; Eymard, Bruno; Faivre, Laurence; Fig...
Journal:
Orphanet journal of rare diseases
Issue:
Volume 9:Issue 1(2014)
Page Start:
1
Record Type:
Journal Article
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2. FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta. Issue 4 (22nd January 2018)

Authors:
Doyard, Mathilde; Bacrot, Séverine; Huber, Céline; Di Rocco, Maja; Goldenberg, Alice; Aglan, Mona S; Brunelle, Perrine; Temtamy, Samia; Michot, Caroline; Otaify, Ghada A; Haudry, Coralie; Castanet, Mireille; Leroux, Julien; Bonnefont, Jean-Paul; Munnich, Arnold; Baujat, Geneviève; Lapunzina, Pabl...
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 4(2018)
Page Start:
278
Record Type:
Journal Article
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3. Homozygous Loss‐of‐Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta. (14th April 2020)

Authors:
Dubail, Johanne; Brunelle, Perrine; Baujat, Geneviève; Huber, Céline; Doyard, Mathilde; Michot, Caroline; Chavassieux, Pascale; Khairouni, Abdeslam; Topouchian, Vicken; Monnot, Sophie; Koumakis, Eugénie; Cormier‐Daire, Valérie
Journal:
Journal of bone and mineral research
Issue:
Volume 35:Number 8(2020)
Page Start:
1470
Record Type:
Journal Article
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4. Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations. Issue 1 (23rd September 2019)

Authors:
Jourdain, Anne‐Sophie; Petit, Florence; Odou, Marie‐Françoise; Balduyck, Malika; Brunelle, Perrine; Dufour, William; Boussion, Simon; Brischoux‐Boucher, Elise; Colson, Cindy; Dieux, Anne; Gérard, Marion; Ghoumid, Jamal; Giuliano, Fabienne; Goldenberg, Alice; Khau Van Kien, Philippe; Lehalle, Daph...
Journal:
Human mutation
Issue:
Volume 41:Issue 1(2020)
Page Start:
222
Record Type:
Journal Article
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5. TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A. Issue 7 (6th April 2020)

Authors:
Boussion, Simon; Escande, Fabienne; Jourdain, Anne‐Sophie; Smol, Thomas; Brunelle, Perrine; Duhamel, Céline; Alembik, Yves; Attié‐Bitach, Tania; Baujat, Geneviève; Bazin, Anne; Bonnière, Maryse; Carassou, Philippe; Carles, Dominique; Devisme, Louise; Goizet, Cyril; Goldenberg, Alice; Grotto, Sara...
Journal:
Human mutation
Issue:
Volume 41:Issue 7(2020)
Page Start:
1220
Record Type:
Journal Article
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6. WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature. Issue 7 (3rd May 2019)

Authors:
Brunelle, Perrine; Jourdain, Anne‐Sophie; Escande, Fabienne; Martinovic, Jelena; Dupont, Juliette; Busa, Tiffany; Moncla, Anne; Frénois, Frédéric; Stichelbout, Morgane; Manouvrier‐Hanu, Sylvie; Petit, Florence
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 7(2019)
Page Start:
1351
Record Type:
Journal Article
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