Lacombe D - Search Results

1

Confirmation and Expansion of the Phenotype Associated with the Recurrent p.Val837Met Variant in TRPM3.

de Sainte Agathe JM, Van-Gils J, Lasseaux E, Arveiler B, Lacombe D, Pfirrmann C, Raclet V, Gaston L, Plaisant C, Aupy J, Trimouille A. de Sainte Agathe JM, et al. Among authors: lacombe d. Eur J Med Genet. 2020 Aug;63(8):103942. doi: 10.1016/j.ejmg.2020.103942. Epub 2020 May 18. Eur J Med Genet. 2020. PMID: 32439617

2

Refined localisation of the voltage-gated chloride channel, CLCN3, to 4q33.

Taine L, Coupry I, Boisseau P, Saura R, Lacombe D, Arveiler B. Taine L, et al. Among authors: lacombe d. Hum Genet. 1998 Feb;102(2):178-81. doi: 10.1007/s004390050673. Hum Genet. 1998. PMID: 9521585

3

Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome.

Taine L, Goizet C, Wen ZQ, Petrij F, Breuning MH, Aymé S, Saura R, Arveiler B, Lacombe D. Taine L, et al. Among authors: lacombe d. Am J Med Genet. 1998 Jul 7;78(3):267-70. Am J Med Genet. 1998. PMID: 9677064

4

W syndrome: report of three cases and review.

Goizet C, Bonneau D, Lacombe D. Goizet C, et al. Among authors: lacombe d. Am J Med Genet. 1999 Dec 22;87(5):446-9. Am J Med Genet. 1999. PMID: 10594887 Review.

5

Case with autistic syndrome and chromosome 22q13.3 deletion detected by FISH.

Goizet C, Excoffier E, Taine L, Taupiac E, El Moneim AA, Arveiler B, Bouvard M, Lacombe D. Goizet C, et al. Among authors: lacombe d. Am J Med Genet. 2000 Dec 4;96(6):839-44. Am J Med Genet. 2000. PMID: 11121193 Review.

6

Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion.

Coupry I, Taine L, Goizet C, Soriano C, Mortemousque B, Arveiler B, Lacombe D. Coupry I, et al. Among authors: lacombe d. J Med Genet. 2001 Jan;38(1):35-8. doi: 10.1136/jmg.38.1.35. J Med Genet. 2001. PMID: 11134238 Free PMC article.

7

Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome.

Coupry I, Roudaut C, Stef M, Delrue MA, Marche M, Burgelin I, Taine L, Cruaud C, Lacombe D, Arveiler B. Coupry I, et al. Among authors: lacombe d. J Med Genet. 2002 Jun;39(6):415-21. doi: 10.1136/jmg.39.6.415. J Med Genet. 2002. PMID: 12070251 Free PMC article. No abstract available.

8

Association of external auditory canal atresia, vertical talus, and hypertelorism: confirmation of Rasmussen syndrome.

Julia S, Pedespan JM, Boudard P, Barbier R, Gavilan-Cellie I, Chateil JF, Lacombe D. Julia S, et al. Among authors: lacombe d. Am J Med Genet. 2002 Jun 15;110(2):179-81. doi: 10.1002/ajmg.10433. Am J Med Genet. 2002. PMID: 12116258

9

[Costello syndrome: clinical aspects and tumor risk].

Delrue MA, Arveiler B, Lacombe D. Delrue MA, et al. Among authors: lacombe d. Arch Pediatr. 2002 Oct;9(10):1059-63. doi: 10.1016/s0929-693x(02)00058-1. Arch Pediatr. 2002. PMID: 12462839 Review. French.

10

Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

Rio M, Clech L, Amiel J, Faivre L, Lyonnet S, Le Merrer M, Odent S, Lacombe D, Edery P, Brauner R, Raoul O, Gosset P, Prieur M, Vekemans M, Munnich A, Colleaux L, Cormier-Daire V. Rio M, et al. Among authors: lacombe d. J Med Genet. 2003 Jun;40(6):436-40. doi: 10.1136/jmg.40.6.436. J Med Genet. 2003. PMID: 12807965 Free PMC article.

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