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Three new cases of ataxia-telangiectasia-like disorder: No impairment of the ATM pathway, but S-phase checkpoint defect.
Fiévet A, Bellanger D, Valence S, Mobuchon L, Afenjar A, Giuliano F, Dubois d'Enghien C, Parfait B, Pedespan JM, Auger N, Rieunier G, Collet A, Burglen L, Stoppa-Lyonnet D, Stern MH. Fiévet A, et al. Among authors: parfait b. Hum Mutat. 2019 Oct;40(10):1690-1699. doi: 10.1002/humu.23773. Epub 2019 May 15. Hum Mutat. 2019. PMID: 31033087
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.
Pasmant E, Sabbagh A, Spurlock G, Laurendeau I, Grillo E, Hamel MJ, Martin L, Barbarot S, Leheup B, Rodriguez D, Lacombe D, Dollfus H, Pasquier L, Isidor B, Ferkal S, Soulier J, Sanson M, Dieux-Coeslier A, Bièche I, Parfait B, Vidaud M, Wolkenstein P, Upadhyaya M, Vidaud D; members of the NF France Network. Pasmant E, et al. Among authors: parfait b. Hum Mutat. 2010 Jun;31(6):E1506-18. doi: 10.1002/humu.21271. Hum Mutat. 2010. PMID: 20513137 Free article.
Functional classification of ATM variants in ataxia-telangiectasia patients.
Fiévet A, Bellanger D, Rieunier G, Dubois d'Enghien C, Sophie J, Calvas P, Carriere JP, Anheim M, Castrioto A, Flabeau O, Degos B, Ewenczyk C, Mahlaoui N, Touzot F, Suarez F, Hully M, Roubertie A, Aladjidi N, Tison F, Antoine-Poirel H, Dahan K, Doummar D, Nougues MC, Ioos C, Rougeot C, Masurel A, Bourjault C, Ginglinger E, Prieur F, Siri A, Bordigoni P, Nguyen K, Philippe N, Bellesme C, Demeocq F, Altuzarra C, Mathieu-Dramard M, Couderc F, Dörk T, Auger N, Parfait B, Abidallah K, Moncoutier V, Collet A, Stoppa-Lyonnet D, Stern MH. Fiévet A, et al. Among authors: parfait b. Hum Mutat. 2019 Oct;40(10):1713-1730. doi: 10.1002/humu.23778. Epub 2019 May 17. Hum Mutat. 2019. PMID: 31050087
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Leman R, Parfait B, Vidaud D, Girodon E, Pacot L, Le Gac G, Ka C, Ferec C, Fichou Y, Quesnelle C, Aucouturier C, Muller E, Vaur D, Castera L, Boulouard F, Ricou A, Tubeuf H, Soukarieh O, Gaildrat P, Riant F, Guillaud-Bataille M, Caputo SM, Caux-Moncoutier V, Boutry-Kryza N, Bonnet-Dorion F, Schultz I, Rossing M, Quenez O, Goldenberg L, Harter V, Parsons MT, Spurdle AB, Frébourg T, Martins A, Houdayer C, Krieger S. Leman R, et al. Among authors: parfait b. Hum Mutat. 2022 Dec;43(12):2308-2323. doi: 10.1002/humu.24491. Epub 2022 Nov 20. Hum Mutat. 2022. PMID: 36273432 Free PMC article.
Higher risk of death among MEN1 patients with mutations in the JunD interacting domain: a Groupe d'etude des Tumeurs Endocrines (GTE) cohort study.
Thevenon J, Bourredjem A, Faivre L, Cardot-Bauters C, Calender A, Murat A, Giraud S, Niccoli P, Odou MF, Borson-Chazot F, Barlier A, Lombard-Bohas C, Clauser E, Tabarin A, Parfait B, Chabre O, Castermans E, Beckers A, Ruszniewski P, Le Bras M, Delemer B, Bouchard P, Guilhem I, Rohmer V, Goichot B, Caron P, Baudin E, Chanson P, Groussin L, Du Boullay H, Weryha G, Lecomte P, Penfornis A, Bihan H, Archambeaud F, Kerlan V, Duron F, Kuhn JM, Vergès B, Rodier M, Renard M, Sadoul JL, Binquet C, Goudet P. Thevenon J, et al. Among authors: parfait b. Hum Mol Genet. 2013 May 15;22(10):1940-8. doi: 10.1093/hmg/ddt039. Epub 2013 Jan 31. Hum Mol Genet. 2013. PMID: 23376981 Free article. Clinical Trial.
NF1 single and multi-exons copy number variations in neurofibromatosis type 1.
Imbard A, Pasmant E, Sabbagh A, Luscan A, Soares M, Goussard P, Blanché H, Laurendeau I, Ferkal S, Vidaud M, Pinson S, Bellanne-Chantelot C, Vidaud D, Wolkenstein P; members of the NF France Network; Parfait B. Imbard A, et al. Among authors: parfait b. J Hum Genet. 2015 Apr;60(4):221-4. doi: 10.1038/jhg.2015.6. Epub 2015 Jan 29. J Hum Genet. 2015. PMID: 25631097
115 results