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686 results

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Page 1
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.
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
Crouzon syndrome with acanthosis nigricans: a case-based update.
Di Rocco F, Collet C, Legeai-Mallet L, Arnaud E, Le Merrer M, Hadj-Rabia S, Renier D. Di Rocco F, et al. Among authors: collet c. Childs Nerv Syst. 2011 Mar;27(3):349-54. doi: 10.1007/s00381-010-1347-z. Epub 2010 Dec 7. Childs Nerv Syst. 2011. PMID: 21136065
FGFR3 overactivation in the brain is responsible for memory impairments in Crouzon syndrome mouse model.
Cornille M, Moriceau S, Khonsari RH, Heuzé Y, Loisay L, Boitez V, Morice A, Arnaud E, Collet C, Bensidhoum M, Kaci N, Boddaert N, Paternoster G, Rauschendorfer T, Werner S, Mansour SL, Di Rocco F, Oury F, Legeai-Mallet L. Cornille M, et al. Among authors: collet c. J Exp Med. 2022 Apr 4;219(4):e20201879. doi: 10.1084/jem.20201879. Epub 2022 Mar 7. J Exp Med. 2022. PMID: 35254402 Free PMC article.
The growth of the foramen magnum in Crouzon syndrome.
Coll G, Arnaud E, Selek L, Brunelle F, Sainte-Rose C, Collet C, Di Rocco F. Coll G, et al. Among authors: collet c. Childs Nerv Syst. 2012 Sep;28(9):1525-35. doi: 10.1007/s00381-012-1805-x. Epub 2012 Aug 8. Childs Nerv Syst. 2012. PMID: 22872269
686 results