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SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Bogaert E, Garde A, Gautier T, Rooney K, Duffourd Y, LeBlanc P, van Reempts E, Tran Mau-Them F, Wentzensen IM, Au KS, Richardson K, Northrup H, Gatinois V, Geneviève D, Louie RJ, Lyons MJ, Laulund LW, Brasch-Andersen C, Maxel Juul T, El It F, Marle N, Callier P, Relator R, Haghshenas S, McConkey H, Kerkhof J, Cesario C, Novelli A, Brunetti-Pierri N, Pinelli M, Pennamen P, Naudion S, Legendre M, Courdier C, Trimouille A, Fenzy MD, Pais L, Yeung A, Nugent K, Roeder ER, Mitani T, Posey JE, Calame D, Yonath H, Rosenfeld JA, Musante L, Faletra F, Montanari F, Sartor G, Vancini A, Seri M, Besmond C, Poirier K, Hubert L, Hemelsoet D, Munnich A, Lupski JR, Philippe C, Thauvin-Robinet C, Faivre L, Sadikovic B, Govin J, Dermaut B, Vitobello A. Bogaert E, et al. Among authors: faivre l. Am J Hum Genet. 2023 May 4;110(5):790-808. doi: 10.1016/j.ajhg.2023.03.016. Epub 2023 Apr 17. Am J Hum Genet. 2023. PMID: 37071997 Free PMC article.
[Prion diseases in pediatrics].
Sol-Caubel I, Castela F, Brousse V, Faivre L, Guigonis V, Thiriez G, Billette de Villemeur T. Sol-Caubel I, et al. Among authors: faivre l. Arch Pediatr. 1999 Mar;6(3):293-301. doi: 10.1016/S0929-693X(99)80269-3. Arch Pediatr. 1999. PMID: 10191898 Review. French.
Mazabraud syndrome in two patients: clinical overlap with McCune-Albright syndrome.
Faivre L, Nivelon-Chevallier A, Kottler ML, Robinet C, Khau Van Kien P, Lorcerie B, Munnich A, Maroteaux P, Cormier-Daire V, LeMerrer M. Faivre L, et al. Am J Med Genet. 2001 Mar 1;99(2):132-6. doi: 10.1002/1096-8628(2000)9999:999<00::aid-ajmg1135>3.0.co;2-a. Am J Med Genet. 2001. PMID: 11241472 Review.
Mutation spectrum and splicing variants in the OPA1 gene.
Delettre C, Griffoin JM, Kaplan J, Dollfus H, Lorenz B, Faivre L, Lenaers G, Belenguer P, Hamel CP. Delettre C, et al. Among authors: faivre l. Hum Genet. 2001 Dec;109(6):584-91. doi: 10.1007/s00439-001-0633-y. Epub 2001 Oct 30. Hum Genet. 2001. PMID: 11810270
Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease.
Campos-Xavier B, Saraiva JM, Savarirayan R, Verloes A, Feingold J, Faivre L, Munnich A, Le Merrer M, Cormier-Daire V. Campos-Xavier B, et al. Among authors: faivre l. Hum Genet. 2001 Dec;109(6):653-8. doi: 10.1007/s00439-001-0644-8. Epub 2001 Nov 9. Hum Genet. 2001. PMID: 11810278
Mild phenotype in a 15-year-old boy with Pallister-Killian syndrome.
Genevieve D, Cormier-Daire V, Sanlaville D, Faivre L, Gosset P, Allart L, Picq M, Munnich A, Romana S, de Blois M, Vekemans M. Genevieve D, et al. Among authors: faivre l. Am J Med Genet A. 2003 Jan 1;116A(1):90-3. doi: 10.1002/ajmg.a.10877. Am J Med Genet A. 2003. PMID: 12476459 Review.
730 results