Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

665 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Mutations in SETD2 cause a novel overgrowth condition.
Luscan A, Laurendeau I, Malan V, Francannet C, Odent S, Giuliano F, Lacombe D, Touraine R, Vidaud M, Pasmant E, Cormier-Daire V. Luscan A, et al. Among authors: lacombe d. J Med Genet. 2014 Aug;51(8):512-7. doi: 10.1136/jmedgenet-2014-102402. Epub 2014 May 22. J Med Genet. 2014. PMID: 24852293
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
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.
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.
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.
Tandem duplication within the neurofibromatosis type 1 gene (NF1) and reciprocal t(15;16)(q26.3;q12.1) translocation in familial association of NF1 with intestinal neuronal dysplasia type B (IND B).
Bahuau M, Laurendeau I, Pelet A, Assouline B, Lamireau T, Taine L, Le Bail B, Vergnes P, Gallet S, Vidaud M, Lyonnet S, Lacombe D, Vidaud D. Bahuau M, et al. Among authors: lacombe d. J Med Genet. 2000 Feb;37(2):146-50. doi: 10.1136/jmg.37.2.146. J Med Genet. 2000. PMID: 10712107 Free PMC article. No abstract available.
665 results