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Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.
Saugier-Veber P, Bonnet C, Afenjar A, Drouin-Garraud V, Coubes C, Fehrenbach S, Holder-Espinasse M, Roume J, Malan V, Portnoi MF, Jeanne N, Baumann C, Héron D, David A, Gérard M, Bonneau D, Lacombe D, Cormier-Daire V, Billette de Villemeur T, Frébourg T, Bürglen L. Saugier-Veber P, et al. Hum Mutat. 2007 Nov;28(11):1098-107. doi: 10.1002/humu.20568. Hum Mutat. 2007. PMID: 17565729
Increased paternal age in CHARGE association.
Tellier AL, Lyonnet S, Cormier-Daire V, de Lonlay P, Abadie V, Baumann C, Bonneau D, Labrune P, Lacombe D, Le Merrer M, Nivelon A, Philip N, Briard ML, Munnich A. Tellier AL, et al. Clin Genet. 1996 Dec;50(6):548-50. doi: 10.1111/j.1399-0004.1996.tb02736.x. Clin Genet. 1996. PMID: 9147897
Genetic heterogeneity of Meckel syndrome.
Roume J, Ma HW, Le Merrer M, Cormier-Daire V, Girlich D, Genin E, Munnich A. Roume J, et al. J Med Genet. 1997 Dec;34(12):1003-6. doi: 10.1136/jmg.34.12.1003. J Med Genet. 1997. PMID: 9429143 Free PMC article.
A gene for Meckel syndrome maps to chromosome 11q13.
Roume J, Genin E, Cormier-Daire V, Ma HW, Mehaye B, Attie T, Razavi-Encha F, Fallet-Bianco C, Buenerd A, Clerget-Darpoux F, Munnich A, Le Merrer M. Roume J, et al. Am J Hum Genet. 1998 Oct;63(4):1095-101. doi: 10.1086/302062. Am J Hum Genet. 1998. PMID: 9758620 Free PMC article.
A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31.
Cormier-Daire V, Dagoneau N, Nabbout R, Burglen L, Penet C, Soufflet C, Desguerre I, Munnich A, Dulac O. Cormier-Daire V, et al. Am J Hum Genet. 2000 Oct;67(4):991-3. doi: 10.1086/303087. Epub 2000 Sep 7. Am J Hum Genet. 2000. PMID: 10978228 Free PMC article.
Pierre Robin sequence: a series of 117 consecutive cases.
Holder-Espinasse M, Abadie V, Cormier-Daire V, Beyler C, Manach Y, Munnich A, Lyonnet S, Couly G, Amiel J. Holder-Espinasse M, et al. J Pediatr. 2001 Oct;139(4):588-90. doi: 10.1067/mpd.2001.117784. J Pediatr. 2001. PMID: 11598609
474 results