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Page 1
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.
Perrault I, Rozet JM, Calvas P, Gerber S, Camuzat A, Dollfus H, Châtelin S, Souied E, Ghazi I, Leowski C, Bonnemaison M, Le Paslier D, Frézal J, Dufier JL, Pittler S, Munnich A, Kaplan J. Perrault I, et al. Among authors: calvas p. Nat Genet. 1996 Dec;14(4):461-4. doi: 10.1038/ng1296-461. Nat Genet. 1996. PMID: 8944027
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
Hanein S, Perrault I, Gerber S, Tanguy G, Barbet F, Ducroq D, Calvas P, Dollfus H, Hamel C, Lopponen T, Munier F, Santos L, Shalev S, Zafeiriou D, Dufier JL, Munnich A, Rozet JM, Kaplan J. Hanein S, et al. Among authors: calvas p. Hum Mutat. 2004 Apr;23(4):306-17. doi: 10.1002/humu.20010. Hum Mutat. 2004. PMID: 15024725 Free article.
Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy.
Bannwarth S, Procaccio V, Rouzier C, Fragaki K, Poole J, Chabrol B, Desnuelle C, Pouget J, Azulay JP, Attarian S, Pellissier JF, Gargus JJ, Abdenur JE, Mozaffar T, Calvas P, Labauge P, Pages M, Wallace DC, Lambert JC, Paquis-Flucklinger V. Bannwarth S, et al. Among authors: calvas p. Mitochondrion. 2008 Mar;8(2):136-45. doi: 10.1016/j.mito.2007.10.008. Epub 2007 Nov 6. Mitochondrion. 2008. PMID: 18078792
Submicroscopic deletions at 13q32.1 cause congenital microcoria.
Fares-Taie L, Gerber S, Tawara A, Ramirez-Miranda A, Douet JY, Verdin H, Guilloux A, Zenteno JC, Kondo H, Moisset H, Passet B, Yamamoto K, Iwai M, Tanaka T, Nakamura Y, Kimura W, Bole-Feysot C, Vilotte M, Odent S, Vilotte JL, Munnich A, Regnier A, Chassaing N, De Baere E, Raymond-Letron I, Kaplan J, Calvas P, Roche O, Rozet JM. Fares-Taie L, et al. Among authors: calvas p. Am J Hum Genet. 2015 Apr 2;96(4):631-9. doi: 10.1016/j.ajhg.2015.01.014. Epub 2015 Mar 12. Am J Hum Genet. 2015. PMID: 25772937 Free PMC article.
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.
Chassaing N, Davis EE, McKnight KL, Niederriter AR, Causse A, David V, Desmaison A, Lamarre S, Vincent-Delorme C, Pasquier L, Coubes C, Lacombe D, Rossi M, Dufier JL, Dollfus H, Kaplan J, Katsanis N, Etchevers HC, Faguer S, Calvas P. Chassaing N, et al. Among authors: calvas p. Genome Res. 2016 Apr;26(4):474-85. doi: 10.1101/gr.196048.115. Epub 2016 Feb 18. Genome Res. 2016. PMID: 26893459 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: calvas p. 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.
Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis.
Zazo-Seco C, Plaisancié J, Bitoun P, Corton M, Arteche A, Ayuso C, Schneider A, Zafeiropoulou D, Gilissen C, Roche O, Frémont F, Calvas P, Slavotinek A, Ragge N, Chassaing N. Zazo-Seco C, et al. Among authors: calvas p. J Hum Genet. 2020 May;65(5):487-491. doi: 10.1038/s10038-020-0726-x. Epub 2020 Feb 3. J Hum Genet. 2020. PMID: 32015378 Clinical Trial.
Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma.
Aubert-Mucca M, Pernin-Grandjean J, Marchasson S, Gaston V, Habib C, Meunier I, Sigaudy S, Kaplan J, Roche O, Denis D, Bitoun P, Haye D, Verloes A, Calvas P, Chassaing N, Plaisancié J. Aubert-Mucca M, et al. Among authors: calvas p. Eur J Hum Genet. 2021 Jan;29(1):131-140. doi: 10.1038/s41431-020-0695-8. Epub 2020 Jul 31. Eur J Hum Genet. 2021. PMID: 32737437 Free PMC article.
187 results