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Page 1
Coffin-Lowry syndrome: a multicenter study.
Gilgenkrantz S, Mujica P, Gruet P, Tridon P, Schweitzer F, Nivelon-Chevallier A, Nivelon JL, Couillault G, David A, Verloes A, et al. Gilgenkrantz S, et al. Among authors: david a. Clin Genet. 1988 Oct;34(4):230-45. doi: 10.1111/j.1399-0004.1988.tb02870.x. Clin Genet. 1988. PMID: 3069251 Clinical Trial.
Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.
Bonnet C, Andrieux J, Béri-Dexheimer M, Leheup B, Boute O, Manouvrier S, Delobel B, Copin H, Receveur A, Mathieu M, Thiriez G, Le Caignec C, David A, de Blois MC, Malan V, Philippe A, Cormier-Daire V, Colleaux L, Flori E, Dollfus H, Pelletier V, Thauvin-Robinet C, Masurel-Paulet A, Faivre L, Tardieu M, Bahi-Buisson N, Callier P, Mugneret F, Edery P, Jonveaux P, Sanlaville D. Bonnet C, et al. Among authors: david a. J Med Genet. 2010 Jun;47(6):377-84. doi: 10.1136/jmg.2009.071902. J Med Genet. 2010. PMID: 20522426
Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP).
Rowe PS, Oudet CL, Francis F, Sinding C, Pannetier S, Econs MJ, Strom TM, Meitinger T, Garabedian M, David A, Macher MA, Questiaux E, Popowska E, Pronicka E, Read AP, Mokrzycki A, Glorieux FH, Drezner MK, Hanauer A, Lehrach H, Goulding JN, O'Riordan JL. Rowe PS, et al. Among authors: david a. Hum Mol Genet. 1997 Apr;6(4):539-49. doi: 10.1093/hmg/6.4.539. Hum Mol Genet. 1997. PMID: 9097956
Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation.
Giraudeau F, Taine L, Biancalana V, Delobel B, Journel H, Missirian C, Lacombe D, Bonneau D, Parent P, Aubert D, Hauck Y, Croquette MF, Toutain A, Mattei MG, Loiseau HA, David A, Vergnaud G. Giraudeau F, et al. Among authors: david a. J Med Genet. 2001 Feb;38(2):121-5. doi: 10.1136/jmg.38.2.121. J Med Genet. 2001. PMID: 11288712 Free PMC article. No abstract available.
Genetic heterogeneity of Usher syndrome type 1 in French families.
Larget-Piet D, Gerber S, Bonneau D, Rozet JM, Marc S, Ghazi I, Dufier JL, David A, Bitoun P, Weissenbach J, et al. Larget-Piet D, et al. Among authors: david a. Genomics. 1994 May 1;21(1):138-43. doi: 10.1006/geno.1994.1235. Genomics. 1994. PMID: 8088781
Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28.
Kyndt F, Schott JJ, Trochu JN, Baranger F, Herbert O, Scott V, Fressinaud E, David A, Moisan JP, Bouhour JB, Le Marec H, Bénichou B. Kyndt F, et al. Among authors: david a. Am J Hum Genet. 1998 Mar;62(3):627-32. doi: 10.1086/301747. Am J Hum Genet. 1998. PMID: 9497244 Free PMC article.
3,455 results