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Page 1
NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.
Hermida A, Ader F, Millat G, Jedraszak G, Maury P, Cador R, Catalan PA, Clerici G, Combes N, De Groote P, Dupin-Deguine D, Eschalier R, Faivre L, Garcia P, Guillon B, Janin A, Kugener B, Lackmy M, Laredo M, Le Guillou X, Lesaffre F, Lucron H, Milhem A, Nadeau G, Nguyen K, Palmyre A, Perdreau E, Picard F, Rebotier N, Richard P, Rooryck C, Seitz J, Verloes A, Vernier A, Winum P, Yabeta GA, Bouchot O, Chevalier P, Charron P, Gandjbakhch E. Hermida A, et al. Among authors: jedraszak g. Circ Genom Precis Med. 2024 Feb;17(1):e004285. doi: 10.1161/CIRCGEN.123.004285. Epub 2023 Dec 7. Circ Genom Precis Med. 2024. PMID: 38059363 Free article.
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.
Prevalence and Significance of Rare Genetic Variants in AKAP9 in Inherited Cardiac Diseases.
Hermida A, Ader F, Jedraszak G, Viboud G, Fressart V, Bréhin AC, Gérard M, Khraiche D, Palmyre A, Paziaud O, Popescu E, Proukhnitzky J, Laredo M, Richard P, Vedrenne G, Vernier A, Charron P, Gandjbakhch E. Hermida A, et al. Among authors: jedraszak g. Circ Genom Precis Med. 2024 Feb;17(1):e004260. doi: 10.1161/CIRCGEN.123.004260. Epub 2024 Jan 23. Circ Genom Precis Med. 2024. PMID: 38258564 No abstract available.
Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy.
Ader F, Jedraszak G, Janin A, Billon C, Buisson NR, Bloch A, Bensalah M, De Sandre-Giovannoli A, Goudal A, Marsili L, Cazeneuve C, Charron P, Millat G, Richard P; Cardiogen French Network of Molecular Biologists. Ader F, et al. Among authors: jedraszak g. Clin Genet. 2024 Jun;105(6):676-682. doi: 10.1111/cge.14505. Epub 2024 Feb 14. Clin Genet. 2024. PMID: 38356193
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Courdier C, Boudjarane J, Malan V, Muti C, Sperelakis-Beedham B, Odent S, Jaillard S, Quelin C, Le Caignec C, Patat O, Dubucs C, Julia S, Schluth-Bolard C, Goumy C, Redon S, Gaillard JB, Huynh MT, Dupont C, Tabet AC, Cogan G, Vialard F, Dard R, Jedraszak G, Jobic F, Lefebvre M, Quenum G, Inai S, Rama M, Sauvestre F, Coatleven F, Thomas J, Rooryck C. Courdier C, et al. Among authors: jedraszak g. Prenat Diagn. 2023 Jun;43(6):734-745. doi: 10.1002/pd.6340. Epub 2023 Mar 23. Prenat Diagn. 2023. PMID: 36914926 Free article.
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 Apr 1. doi: 10.1111/cge.14525. Online ahead of print. Clin Genet. 2024. PMID: 38561231
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 Feb 29:e63531. doi: 10.1002/ajmg.a.63531. Online ahead of print. Am J Med Genet A. 2024. PMID: 38421086
New intragenic rearrangements in non-Finnish mulibrey nanism.
Jobic F, Morin G, Vincent-Delorme C, Cadet E, Cabry R, Mathieu-Dramard M, Copin H, Rochette J, Jedraszak G. Jobic F, et al. Among authors: jedraszak g. Am J Med Genet A. 2017 Oct;173(10):2782-2788. doi: 10.1002/ajmg.a.38381. Epub 2017 Aug 17. Am J Med Genet A. 2017. PMID: 28815877
34 results