Lacombe D - Search Results

1

Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?

Moutton S, Rooryck C, Toutain J, Cailley D, Bouron J, Villega F, Taupiac E, Lacombe D, Arveiler B, Goizet C. Moutton S, et al. Among authors: lacombe d. Eur J Med Genet. 2012 Feb;55(2):151-5. doi: 10.1016/j.ejmg.2011.12.009. Epub 2012 Jan 5. Eur J Med Genet. 2012. PMID: 22274139

2

Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3.

Lacombe D, Saura R, Taine L, Battin J. Lacombe D, et al. Am J Med Genet. 1992 Sep 1;44(1):126-8. doi: 10.1002/ajmg.1320440134. Am J Med Genet. 1992. PMID: 1519642

3

New case of Toriello-Carey syndrome.

Lacombe D, Creusot G, Battin J. Lacombe D, et al. Am J Med Genet. 1992 Feb 1;42(3):374-6. doi: 10.1002/ajmg.1320420325. Am J Med Genet. 1992. PMID: 1536182

4

18p monosomy with midline defects and a de novo satellite identified by FISH.

Taine L, Goizet C, Wen ZQ, Chateil JF, Battin J, Saura R, Lacombe D. Taine L, et al. Among authors: lacombe d. Ann Genet. 1997;40(3):158-63. Ann Genet. 1997. PMID: 9401105

5

[Does germinal chromosomal mosaicism exist?].

Goizet C, Taine L, Wen ZQ, Horovitz J, Lacombe D, Saura R. Goizet C, et al. Among authors: lacombe d. J Gynecol Obstet Biol Reprod (Paris). 1997;26(3 Suppl):133-5. J Gynecol Obstet Biol Reprod (Paris). 1997. PMID: 9471442 French. No abstract available.

6

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

7

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

8

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.

9

[Williams syndrome (microdeletion 7q11.23), model of behavioral phenotype].

Battin J, Lacombe D, Taine L, Goizet C. Battin J, et al. Among authors: lacombe d. Bull Acad Natl Med. 2000;184(1):105-15; discussion 115-6. Bull Acad Natl Med. 2000. PMID: 10989534 French.

10

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.

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