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Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.
Cottereau E, Mortemousque I, Moizard MP, Bürglen L, Lacombe D, Gilbert-Dussardier B, Sigaudy S, Boute O, David A, Faivre L, Amiel J, Robertson R, Viana Ramos F, Bieth E, Odent S, Demeer B, Mathieu M, Gaillard D, Van Maldergem L, Baujat G, Maystadt I, Héron D, Verloes A, Philip N, Cormier-Daire V, Frouté MF, Pinson L, Blanchet P, Sarda P, Willems M, Jacquinet A, Ratbi I, Van Den Ende J, Lackmy-Port Lis M, Goldenberg A, Bonneau D, Rossignol S, Toutain A. Cottereau E, et al. Among authors: verloes a. Am J Med Genet C Semin Med Genet. 2013 May;163C(2):92-105. doi: 10.1002/ajmg.c.31360. Epub 2013 Apr 18. Am J Med Genet C Semin Med Genet. 2013. PMID: 23606591 Review.
The Baller-Gerold syndrome.
Van Maldergem L, Verloes A, Lejeune L, Gillerot Y. Van Maldergem L, et al. Among authors: verloes a. J Med Genet. 1992 Apr;29(4):266-8. doi: 10.1136/jmg.29.4.266. J Med Genet. 1992. PMID: 1583650 Free PMC article.
Trisomy 20q. A new case and further phenotypic delineation.
Herens C, Verloes A, Laloux F, Van Maldergem L. Herens C, et al. Among authors: verloes a. Clin Genet. 1990 May;37(5):363-6. doi: 10.1111/j.1399-0004.1990.tb03520.x. Clin Genet. 1990. PMID: 2191794 Review.
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: verloes 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.
503 results