Lacombe D - Search Results

1

Atypical male and female presentations of FLNA-related periventricular nodular heterotopia.

Fergelot P, Coupry I, Rooryck C, Deforges J, Maurat E, Solé G, Boute O, Dieux-Coeslier A, David A, Marchal C, Thambo JB, Lacombe D, Arveiler B, Goizet C. Fergelot P, et al. Among authors: lacombe d. Eur J Med Genet. 2012 May;55(5):313-8. doi: 10.1016/j.ejmg.2012.01.018. Epub 2012 Feb 8. Eur J Med Genet. 2012. PMID: 22366253

2

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

3

[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.

4

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

5

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

6

Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.

Longy M, Coulon V, Duboué B, David A, Larrègue M, Eng C, Amati P, Kraimps JL, Bottani A, Lacombe D, Bonneau D. Longy M, et al. Among authors: lacombe d. J Med Genet. 1998 Nov;35(11):886-9. doi: 10.1136/jmg.35.11.886. J Med Genet. 1998. PMID: 9832032 Free PMC article.

7

Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.

David A, Bitoun P, Lacombe D, Lambert JC, Nivelon A, Vigneron J, Verloes A. David A, et al. Among authors: lacombe d. J Med Genet. 1999 Aug;36(8):599-603. J Med Genet. 1999. PMID: 10465109 Free PMC article.

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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