Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature

Autor: Dominique Martin-Coignard, Olivier Pincemaille, Claire de Barace, Nathalie Boddaert, Michel Polak, Tiffany Pascreau, Nathalie Seta, Christine Francannet, Gilles Morin, Valérie Cormier-Daire, François Labarthe, Manuel Schiff, Alexis Brice, Anaïs Brassier, Arnaud Bruneel, Patrick Edery, Alina Arion, Isabelle Fontan, Brigitte Chabrol, Cyril Gitiaux, Emmanuel de Maistre, Anne de Saint-Martin, Valérie Drouin-Garraud, Maud Bidet, Magali Barth, Catherine Bloch, Thierry Dupré, Céline Roda, Nathalie Bednarek, Sandrine Vuillaumier-Barrot, Marie-Chantal Chevalier, Géraldine Viot, François Feillet, Annick Toutain, Sylvie Lamoureux, Christel Thauvin-Robinet, Marie Hully, Delphine Borgel, Cyril Mignot, Nathalie Dorison, Bernard Echenne, Agathe Roubertie, Delphine Héron, Roger Buissonnière, Marie-Lorraine Monin, Pascale de Lonlay

Publikováno v: Journal of Medical Genetics. 54:843-851

Background Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is a multisystem inborn error of metabolism. Objectives To better characterise the natural history of PMM2-CDG. Methods Medical charts of 96 patients with PMM2-CDG (86 fa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a286a9e65c15216616182b877bfc8b9
https://doi.org/10.1136/jmedgenet-2017-104903

Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review

Autor: Claire de Barace, Jeanne Amiel, Annick Toutain, Alain Verloes, Christèle Dubourg, Laila El Khattabi, Sylvie Jaillard, Laurent Pasquier, Eva Pipiras, Louise Devisme, JM Pinard, Florence Demurger, Dominique P. Germain, Pascale Marcorelles, Marie-Christine de Blois, Valérie Malan, Yline Capri, Loïc de Pontual, Joris Andrieux, Josette Lucas, Catherine Vincent-Delorme, Azzedine Aboura, Marc-Antoine Belaud-Rotureau, Abdelmadjid Benmansour, Laurence Perrin, Nathalie Le Dû, Catherine Henry, Aziza Lebbar, Hubert Journel, Anne-Claude Tabet

Publikováno v: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, 2015, 167 (6), pp.1252--1261. ⟨10.1002/ajmg.a.36932⟩
American Journal of Medical Genetics Part A, Wiley, 2015, 167 (6), pp.1252--1261. ⟨10.1002/ajmg.a.36932⟩
American Journal of Medical Genetics Part A, Wiley, 2015, 167 (6), pp.1252--1261. 〈10.1002/ajmg.a.36932〉

International audience; Tetrasomy 9p is a generic term describing the presence of a supernumerary chromosome incorporating two copies of the 9p arm. Two varieties exist: isodicentric chromosome 9p (i(9p)), where the two 9p arms are linked by a single

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe14a45c11963c362741330e8eadf120
https://univ-rennes.hal.science/hal-01165441

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

Autor: Sandra Mercier, Annick Toutain, Aurélie Toussaint, Martine Raynaud, Claire de Barace, Pascale Marcorelles, Laurent Pasquier, Martine Blayau, Caroline Espil, Philippe Parent, Hubert Journel, Leila Lazaro, Jon Andoni Urtizberea, Alexandre Moerman, Laurence Faivre, Bruno Eymard, Kim Maincent, Romain Gherardi, Denys Chaigne, Rabah Ben Yaou, France Leturcq, Jamel Chelly, Isabelle Desguerre

Publikováno v: European journal of human genetics : EJHG. 21(8)

The molecular basis underlying the clinical variability in symptomatic Duchenne muscular dystrophy (DMD) carriers are still to be precised. We report 26 cases of early symptomatic DMD carriers followed in the French neuromuscular network. Clinical pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3a73a033ee4808e346b3c825f057714
https://pubmed.ncbi.nlm.nih.gov/23299919

Molecular basis of a selective C1s deficiency associated with early onset multiple autoimmune diseases

Autor: Wolf H. Fridman, Véronique Frémeaux-Bacchi, Pierre Quartier, Claire de Barace, Laurence Weiss, Marie-Agnès Dragon-Durey, Jacques Blouin, Anne-Marie Prieur

Publikováno v: Journal of immunology (Baltimore, Md. : 1950). 166(12)

We have investigated the molecular basis of selective and complete C1s deficiency in 2-year-old girl with complex autoimmune diseases including lupus-like syndrome, Hashimoto’s thyroiditis, and autoimmune hepatitis. This patient’s complement prof

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb71a78ab8792a35cd759153feed3ee3
https://pubmed.ncbi.nlm.nih.gov/11390518