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Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome").
Pachlopnik Schmid J, Lemoine R, Nehme N, Cormier-Daire V, Revy P, Debeurme F, Debré M, Nitschke P, Bole-Feysot C, Legeai-Mallet L, Lim A, de Villartay JP, Picard C, Durandy A, Fischer A, de Saint Basile G. Pachlopnik Schmid J, et al. J Exp Med. 2012 Dec 17;209(13):2323-30. doi: 10.1084/jem.20121303. Epub 2012 Dec 10. J Exp Med. 2012. PMID: 23230001 Free PMC article.
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: legeai mallet l. 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.
Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation.
Cossiez Cacard MA, Coulombe J, Bernard P, Kaci N, Bressieux JM, Souchon PF, Motte J, Legeai-Mallet L, Hadj-Rabia S, Eschard C. Cossiez Cacard MA, et al. J Eur Acad Dermatol Venereol. 2016 May;30(5):897-8. doi: 10.1111/jdv.13061. Epub 2015 Mar 24. J Eur Acad Dermatol Venereol. 2016. PMID: 25809207 No abstract available.
Animal models of craniosynostosis.
Cornille M, Dambroise E, Komla-Ebri D, Kaci N, Biosse-Duplan M, Di Rocco F, Legeai-Mallet L. Cornille M, et al. Neurochirurgie. 2019 Nov;65(5):202-209. doi: 10.1016/j.neuchi.2019.09.010. Epub 2019 Sep 26. Neurochirurgie. 2019. PMID: 31563616 Review.
Embryonic cranial cartilage defects in the Fgfr3Y367C /+ mouse model of achondroplasia.
Motch Perrine SM, Sapkota N, Kawasaki K, Zhang Y, Chen DZ, Kawasaki M, Durham EL, Heuzé Y, Legeai-Mallet L, Richtsmeier JT. Motch Perrine SM, et al. Among authors: legeai mallet l. Anat Rec (Hoboken). 2023 Sep 25:10.1002/ar.25327. doi: 10.1002/ar.25327. Online ahead of print. Anat Rec (Hoboken). 2023. PMID: 37747411
77 results