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

623 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
A new case of bent bone dysplasia--FGFR2 type and review of the literature.
Stichelbout M, Dieux-Coeslier A, Clouqueur E, Collet C, Petit F. Stichelbout M, et al. Among authors: collet c. Am J Med Genet A. 2016 Mar;170(3):785-9. doi: 10.1002/ajmg.a.37473. Epub 2015 Nov 17. Am J Med Genet A. 2016. PMID: 26573129 Review. No abstract available.
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Vincent M, Geneviève D, Ostertag A, Marlin S, Lacombe D, Martin-Coignard D, Coubes C, David A, Lyonnet S, Vilain C, Dieux-Coeslier A, Manouvrier S, Isidor B, Jacquemont ML, Julia S, Layet V, Naudion S, Odent S, Pasquier L, Pelras S, Philip N, Pierquin G, Prieur F, Aboussair N, Attie-Bitach T, Baujat G, Blanchet P, Blanchet C, Dollfus H, Doray B, Schaefer E, Edery P, Giuliano F, Goldenberg A, Goizet C, Guichet A, Herlin C, Lambert L, Leheup B, Martinovic J, Mercier S, Mignot C, Moutard ML, Perez MJ, Pinson L, Puechberty J, Willems M, Randrianaivo H, Szakszon K, Toutain A, Verloes A, Vigneron J, Sanchez E, Sarda P, Laplanche JL, Collet C. Vincent M, et al. Among authors: collet c. Genet Med. 2016 Jan;18(1):49-56. doi: 10.1038/gim.2015.29. Epub 2015 Mar 19. Genet Med. 2016. PMID: 25790162 Free article.
Prenatal findings in carpenter syndrome and a novel mutation in RAB23.
Haye D, Collet C, Sembely-Taveau C, Haddad G, Denis C, Soulé N, Suc AL, Listrat A, Toutain A. Haye D, et al. Among authors: collet c. Am J Med Genet A. 2014 Nov;164A(11):2926-30. doi: 10.1002/ajmg.a.36726. Epub 2014 Aug 28. Am J Med Genet A. 2014. PMID: 25168863
Germline mutations in FGF receptors and medulloblastomas.
Bourdeaut F, Miquel C, Di Rocco F, Grison C, Richer W, Brugieres L, Pierron G, James S, Baujat G, Delattre O, Collet C. Bourdeaut F, et al. Among authors: collet c. Am J Med Genet A. 2013 Feb;161A(2):382-5. doi: 10.1002/ajmg.a.35719. Epub 2013 Jan 16. Am J Med Genet A. 2013. PMID: 23325524 No abstract available.
Acanthosis nigricans, hypochondroplasia, and FGFR3 mutations: Findings with five new patients, and a review of the literature.
Muguet Guenot L, Aubert H, Isidor B, Toutain A, Mazereeuw-Hautier J, Collet C, Bourrat E, Denis Musquer M, Barbarot S; Groupe de Recherche de la Société Française de Dermatologie Pédiatrique. Muguet Guenot L, et al. Among authors: collet c. Pediatr Dermatol. 2019 Mar;36(2):242-246. doi: 10.1111/pde.13748. Epub 2019 Feb 14. Pediatr Dermatol. 2019. PMID: 30762251 Review.
CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.
Pinson L, Mannini L, Willems M, Cucco F, Sirvent N, Frebourg T, Quarantotti V, Collet C, Schneider A, Sarda P, Geneviève D, Puechberty J, Lefort G, Musio A. Pinson L, et al. Among authors: collet c. Am J Med Genet A. 2014 Jan;164A(1):177-81. doi: 10.1002/ajmg.a.36166. Epub 2013 Nov 20. Am J Med Genet A. 2014. PMID: 24259107
623 results