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Year Number of Results
2013 2
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2015 9
2017 3
2018 1
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2023 6
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Page 1
[Cat eye syndrome].
Bremond-Gignac D, Morin G, Jedraszak G, Receveur A, Rochette J, Copin H. Bremond-Gignac D, et al. Among authors: jedraszak g. J Fr Ophtalmol. 2015 Apr;38(4):368-9. doi: 10.1016/j.jfo.2014.09.016. Epub 2015 Mar 20. J Fr Ophtalmol. 2015. PMID: 25799388 French. No abstract available.
Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.
Lavoine N, Colas C, Muleris M, Bodo S, Duval A, Entz-Werle N, Coulet F, Cabaret O, Andreiuolo F, Charpy C, Sebille G, Wang Q, Lejeune S, Buisine MP, Leroux D, Couillault G, Leverger G, Fricker JP, Guimbaud R, Mathieu-Dramard M, Jedraszak G, Cohen-Hagenauer O, Guerrini-Rousseau L, Bourdeaut F, Grill J, Caron O, Baert-Dusermont S, Tinat J, Bougeard G, Frébourg T, Brugières L. Lavoine N, et al. Among authors: jedraszak g. J Med Genet. 2015 Nov;52(11):770-8. doi: 10.1136/jmedgenet-2015-103299. Epub 2015 Aug 28. J Med Genet. 2015. PMID: 26318770 Review.
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.
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.
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.
HDAC6 regulates human erythroid differentiation through modulation of JAK2 signalling.
Vong P, Messaoudi K, Jankovsky N, Gomilla C, Demont Y, Caulier A, Jedraszak G, Demagny J, Djordjevic S, Boyer T, Marolleau JP, Rochette J, Ouled-Haddou H, Garçon L. Vong P, et al. Among authors: jedraszak g. J Cell Mol Med. 2023 Jan;27(2):174-188. doi: 10.1111/jcmm.17559. Epub 2022 Dec 28. J Cell Mol Med. 2023. PMID: 36578217 Free PMC article.
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
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.
33 results