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Page 1
Obesity: a new feature of WAGR (del 11p) syndrome.
Marlin S, Couet D, Lacombe D, Cessans C, Bonneau D. Marlin S, et al. Among authors: lacombe d. Clin Dysmorphol. 1994 Jul;3(3):255-7. Clin Dysmorphol. 1994. PMID: 7526938
A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene.
Vincent C, Kalatzis V, Compain S, Levilliers J, Slim R, Graia F, Pereira ML, Nivelon A, Croquette MF, Lacombe D, et al. Vincent C, et al. Among authors: lacombe d. Hum Mol Genet. 1994 Oct;3(10):1859-66. doi: 10.1093/hmg/3.10.1859. Hum Mol Genet. 1994. PMID: 7849713
A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family.
Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Weil D, Cruaud C, Sahly I, Leibovici M, Bitner-Glindzicz M, Francis M, Lacombe D, Vigneron J, Charachon R, Boven K, Bedbeder P, Van Regemorter N, Weissenbach J, Petit C. Abdelhak S, et al. Among authors: lacombe d. Nat Genet. 1997 Feb;15(2):157-64. doi: 10.1038/ng0297-157. Nat Genet. 1997. PMID: 9020840
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. Among authors: lacombe d. Clin Genet. 1996 Dec;50(6):548-50. doi: 10.1111/j.1399-0004.1996.tb02736.x. Clin Genet. 1996. PMID: 9147897
CHARGE syndrome: report of 47 cases and review.
Tellier AL, Cormier-Daire V, Abadie V, Amiel J, Sigaudy S, Bonnet D, de Lonlay-Debeney P, Morrisseau-Durand MP, Hubert P, Michel JL, Jan D, Dollfus H, Baumann C, Labrune P, Lacombe D, Philip N, LeMerrer M, Briard ML, Munnich A, Lyonnet S. Tellier AL, et al. Among authors: lacombe d. Am J Med Genet. 1998 Apr 13;76(5):402-9. doi: 10.1002/(sici)1096-8628(19980413)76:5<402::aid-ajmg7>3.0.co;2-o. Am J Med Genet. 1998. PMID: 9556299 Review.
Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.
Villard L, Bonino MC, Abidi F, Ragusa A, Belougne J, Lossi AM, Seaver L, Bonnefont JP, Romano C, Fichera M, Lacombe D, Hanauer A, Philip N, Schwartz C, Fontés M. Villard L, et al. Among authors: lacombe d. J Med Genet. 1999 Mar;36(3):183-6. J Med Genet. 1999. PMID: 10204841 Free PMC article.
677 results