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Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.
Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, Stevens R, Gillerot Y, Héron D, Héron B, Benzacken B, Lacombe D, Brunner H, Bitoun P. Verloes A, et al. Am J Med Genet A. 2006 Jun 15;140(12):1285-96. doi: 10.1002/ajmg.a.31270. Am J Med Genet A. 2006. PMID: 16700052
CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene.
Keren B, Suzuki OT, Gérard-Blanluet M, Brémond-Gignac D, Elmaleh M, Titomanlio L, Delezoide AL, Passos-Bueno MR, Verloes A. Keren B, et al. Am J Med Genet A. 2007 Jul 1;143A(13):1514-8. doi: 10.1002/ajmg.a.31784. Am J Med Genet A. 2007. PMID: 17546652 No abstract available.
Incomplete penetrance of biallelic ALDH1A3 mutations.
Plaisancié J, Brémond-Gignac D, Demeer B, Gaston V, Verloes A, Fares-Taie L, Gerber S, Rozet JM, Calvas P, Chassaing N. Plaisancié J, et al. Eur J Med Genet. 2016 Apr;59(4):215-8. doi: 10.1016/j.ejmg.2016.02.004. Epub 2016 Feb 10. Eur J Med Genet. 2016. PMID: 26873617
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. 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.
233 results