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Page 1
Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients.
Jedraszak G, Demeer B, Mathieu-Dramard M, Andrieux J, Receveur A, Weber A, Maye U, Foulds N, Temple IK, Crolla J, Alex-Cordier MP, Sanlaville D, Ewans L, Wilson M, Armstrong R, Clarkson A, Copin H, Morin G. Jedraszak G, et al. Am J Med Genet A. 2015 Mar;167A(3):504-11. doi: 10.1002/ajmg.a.36882. Epub 2015 Jan 8. Am J Med Genet A. 2015. PMID: 25572454 Review.
3q29 duplications: A cohort of 46 patients and a literature review.
Massier M, Doco-Fenzy M, Egloff M, Le Guillou X, Le Guyader G, Redon S, Benech C, Le Millier K, Uguen K, Ropars J, Sacaze E, Audebert-Bellanger S, Apetrei A, Molin A, Gruchy N, Vincent-Devulder A, Spodenkiewicz M, Jacquin C, Loron G, Thibaud M, Delplancq G, Brisset S, Lesieur-Sebellin M, Malan V, Romana S, Rio M, Marlin S, Amiel J, Marquet V, Dauriat B, Moradkhani K, Mercier S, Isidor B, Arpin S, Pujalte M, Jedraszak G, Pebrel-Richard C, Salaun G, Laffargue F, Boudjarane J, Missirian C, Chelloug N, Toutain A, Chiesa J, Keren B, Mignot C, Gouy E, Jaillard S, Landais E, Poirsier C. Massier M, et al. Among authors: jedraszak g. Am J Med Genet A. 2024 Jul;194(7):e63531. doi: 10.1002/ajmg.a.63531. Epub 2024 Feb 29. Am J Med Genet A. 2024. PMID: 38421086 Review.
Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.
Billes A, Pujalte M, Jedraszak G, Amsallem D, Boudry-Labis E, Boute O, Bouquillon S, Brischoux-Boucher E, Callier P, Coutton C, Denizet AA, Dieterich K, Kuentz P, Lespinasse J, Mazel B, Morin G, Amram F, Pennamen P, Rio M, Piard J, Putoux A, Rama M, Roze-Guillaumey V, Schluth-Bolard C, Till M, Trouvé C, Vieville G, Rooryck C, Sanlaville D, Chatron N. Billes A, et al. Among authors: jedraszak g. Clin Genet. 2024 Sep;106(3):234-246. doi: 10.1111/cge.14525. Epub 2024 Apr 1. Clin Genet. 2024. PMID: 38561231
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.
Morin G, Bruechle NO, Singh AR, Knopp C, Jedraszak G, Elbracht M, Brémond-Gignac D, Hartmann K, Sevestre H, Deutz P, Hérent D, Nürnberg P, Roméo B, Konrad K, Mathieu-Dramard M, Oldenburg J, Bourges-Petit E, Shen Y, Zerres K, Ouadid-Ahidouch H, Rochette J. Morin G, et al. Among authors: jedraszak g. Hum Mutat. 2014 Oct;35(10):1221-32. doi: 10.1002/humu.22621. Hum Mutat. 2014. PMID: 25044882
Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation.
Jobic F, Lacot-Leriche E, Piton A, Le Moing AG, Mathieu-Dramard M, Costantini S, Morin G, Jedraszak G. Jobic F, et al. Among authors: jedraszak g. Am J Med Genet A. 2021 Dec;185(12):3877-3883. doi: 10.1002/ajmg.a.62448. Epub 2021 Aug 6. Am J Med Genet A. 2021. PMID: 34357686
Use of ranolazine as rescue therapy in a patient with Timothy syndrome type 2.
Hermida A, Jedraszak G, Kubala M, Bourgain M, Bodeau S, Hermida JS. Hermida A, et al. Among authors: jedraszak g. Rev Esp Cardiol (Engl Ed). 2022 May;75(5):447-448. doi: 10.1016/j.rec.2021.11.003. Epub 2021 Nov 26. Rev Esp Cardiol (Engl Ed). 2022. PMID: 34844894 English, Spanish. No abstract available.
38 results