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Page 1
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. 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.
A severe prenatal presentation of Cat Eye Syndrome.
Jedraszak G, Receveur A, Andrieux J, Naepels P, Mathieu-Dramard M, Bremond-Gignac D, Sevestre H, Copin H, Rochette J. Jedraszak G, et al. Clin Dysmorphol. 2013 Oct;22(4):175-177. doi: 10.1097/MCD.0000000000000011. Clin Dysmorphol. 2013. PMID: 23982124 No abstract available.
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Redin C, Gérard B, Lauer J, Herenger Y, Muller J, Quartier A, Masurel-Paulet A, Willems M, Lesca G, El-Chehadeh S, Le Gras S, Vicaire S, Philipps M, Dumas M, Geoffroy V, Feger C, Haumesser N, Alembik Y, Barth M, Bonneau D, Colin E, Dollfus H, Doray B, Delrue MA, Drouin-Garraud V, Flori E, Fradin M, Francannet C, Goldenberg A, Lumbroso S, Mathieu-Dramard M, Martin-Coignard D, Lacombe D, Morin G, Polge A, Sukno S, Thauvin-Robinet C, Thevenon J, Doco-Fenzy M, Genevieve D, Sarda P, Edery P, Isidor B, Jost B, Olivier-Faivre L, Mandel JL, Piton A. Redin C, et al. J Med Genet. 2014 Nov;51(11):724-36. doi: 10.1136/jmedgenet-2014-102554. Epub 2014 Aug 28. J Med Genet. 2014. PMID: 25167861 Free PMC article.
Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.
Bodo S, Colas C, Buhard O, Collura A, Tinat J, Lavoine N, Guilloux A, Chalastanis A, Lafitte P, Coulet F, Buisine MP, Ilencikova D, Ruiz-Ponte C, Kinzel M, Grandjouan S, Brems H, Lejeune S, Blanché H, Wang Q, Caron O, Cabaret O, Svrcek M, Vidaud D, Parfait B, Verloes A, Knappe UJ, Soubrier F, Mortemousque I, Leis A, Auclair-Perrossier J, Frébourg T, Fléjou JF, Entz-Werle N, Leclerc J, Malka D, Cohen-Haguenauer O, Goldberg Y, Gerdes AM, Fedhila F, Mathieu-Dramard M, Hamelin R, Wafaa B, Gauthier-Villars M, Bourdeaut F, Sheridan E, Vasen H, Brugières L, Wimmer K, Muleris M, Duval A; European Consortium “Care for CMMRD”. Bodo S, et al. Gastroenterology. 2015 Oct;149(4):1017-29.e3. doi: 10.1053/j.gastro.2015.06.013. Epub 2015 Jun 25. Gastroenterology. 2015. PMID: 26116798 Free 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. 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
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.
Legendre M, Abadie V, Attié-Bitach T, Philip N, Busa T, Bonneau D, Colin E, Dollfus H, Lacombe D, Toutain A, Blesson S, Julia S, Martin-Coignard D, Geneviève D, Leheup B, Odent S, Jouk PS, Mercier S, Faivre L, Vincent-Delorme C, Francannet C, Naudion S, Mathieu-Dramard M, Delrue MA, Goldenberg A, Héron D, Parent P, Touraine R, Layet V, Sanlaville D, Quélin C, Moutton S, Fradin M, Jacquette A, Sigaudy S, Pinson L, Sarda P, Guerrot AM, Rossi M, Masurel-Paulet A, El Chehadeh S, Piguel X, Rodriguez-Ballesteros M, Ragot S, Lyonnet S, Bilan F, Gilbert-Dussardier B. Legendre M, et al. Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):417-430. doi: 10.1002/ajmg.c.31591. Epub 2017 Nov 27. Am J Med Genet C Semin Med Genet. 2017. PMID: 29178447
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