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Page 1
A 22q13.1 duplication in mosaicism including SOX10.
Bertani-Torres W, Serey-Gaut M, de Oliveira J, Bole C, Parisot M, Nistschké P, Maurin ML, Lapierre JM, Loundon N, Belhous K, Bondurand N, Marlin S, Pingault V. Bertani-Torres W, et al. Among authors: bole c. Am J Med Genet A. 2023 Dec;191(12):2813-2818. doi: 10.1002/ajmg.a.63362. Epub 2023 Aug 2. Am J Med Genet A. 2023. PMID: 37533297
Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.
Alby C, Boutaud L, Bessières B, Serre V, Rio M, Cormier-Daire V, de Oliveira J, Ichkou A, Mouthon L, Gordon CT, Bonnière M, Mechler C, Nitschke P, Bole C, Lyonnet S, Bahi-Buisson N, Boddaert N, Colleaux L, Roth P, Ville Y, Vekemans M, Encha-Razavi F, Attié-Bitach T, Thomas S. Alby C, et al. Among authors: bole c. Am J Med Genet A. 2018 May;176(5):1091-1098. doi: 10.1002/ajmg.a.38684. Am J Med Genet A. 2018. PMID: 29681083
Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1.
Chopra M, Caswell R, Barcia G, Rondeau S, Jonard L, Nitchké P, Amram D, Bellaiche ML, Abadie V, Parodi M, Denoyelle F, Hattersley A, Bole C, Lyonnet S, Marlin S. Chopra M, et al. Among authors: bole c. Eur J Hum Genet. 2022 Aug;30(8):960-966. doi: 10.1038/s41431-022-01118-6. Epub 2022 May 20. Eur J Hum Genet. 2022. PMID: 35590056 Free PMC article.
Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.
Tessier A, Roux N, Boutaud L, Lunel E, Hakkakian L, Parisot M, Garfa-Traoré M, Ichkou A, Elkhartoufi N, Bole C, Nitschke P, Amiel J, Martinovic J, Encha-Razavi F, Attié-Bitach T, Thomas S. Tessier A, et al. Among authors: bole c. Acta Neuropathol Commun. 2023 Feb 20;11(1):29. doi: 10.1186/s40478-023-01519-8. Acta Neuropathol Commun. 2023. PMID: 36803301 Free PMC article.
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
Gerber S, Alzayady KJ, Burglen L, Brémond-Gignac D, Marchesin V, Roche O, Rio M, Funalot B, Calmon R, Durr A, Gil-da-Silva-Lopes VL, Ribeiro Bittar MF, Orssaud C, Héron B, Ayoub E, Berquin P, Bahi-Buisson N, Bole C, Masson C, Munnich A, Simons M, Delous M, Dollfus H, Boddaert N, Lyonnet S, Kaplan J, Calvas P, Yule DI, Rozet JM, Fares Taie L. Gerber S, et al. Among authors: bole c. Am J Hum Genet. 2016 May 5;98(5):971-980. doi: 10.1016/j.ajhg.2016.03.004. Epub 2016 Apr 21. Am J Hum Genet. 2016. PMID: 27108797 Free PMC article.
Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature.
Ruaud L, Roux N, Boutaud L, Bessières B, Ageorges F, Achaiaa A, Bole C, Nitschke P, Masson C, Vekemans M, Verloes A, Attie-Bitach T. Ruaud L, et al. Among authors: bole c. Birth Defects Res. 2022 Jun;114(10):499-504. doi: 10.1002/bdr2.2011. Epub 2022 Apr 15. Birth Defects Res. 2022. PMID: 35426486 Review.
39 results