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Page 1
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.
Foetal achondroplasia: Prenatal diagnosis, outcome and perspectives.
Vallin AL, Grévent D, Bessières B, Salomon LJ, Legeai-Mallet L, Cormier-Daire V, Baujat G, Ville Y, Faure-Bardon V. Vallin AL, et al. Among authors: cormier daire v. J Gynecol Obstet Hum Reprod. 2024 Dec 5;54(2):102891. doi: 10.1016/j.jogoh.2024.102891. Online ahead of print. J Gynecol Obstet Hum Reprod. 2024. PMID: 39643117
Genetic variability in proteoglycan biosynthetic genes reveals new facets of heparan sulfate diversity.
Ouidja MO, Biard DSF, Huynh MB, Laffray X, Gomez-Henao W, Chantepie S, Le Douaron G, Rebergue N, Maïza A, Merrick H, De Lichy A, Dady A, González-Velasco O, Rubio K, Barreto G, Baranger K, Cormier-Daire V, De Las Rivas J, Fernig DG, Papy-Garcia D. Ouidja MO, et al. Among authors: cormier daire v. Essays Biochem. 2024 Dec 4;68(4):555-578. doi: 10.1042/EBC20240106. Essays Biochem. 2024. PMID: 39630030 Free PMC article. Review.
Oral Infigratinib Therapy in Children with Achondroplasia.
Savarirayan R, De Bergua JM, Arundel P, Salles JP, Saraff V, Delgado B, Leiva-Gea A, McDevitt H, Nicolino M, Rossi M, Salcedo M, Cormier-Daire V, Skae M, Kannu P, Phillips J 3rd, Saal H, Harmatz P, Candler T, Hill D, Muslimova E, Weng R, Bai Y, Raj S, Hoover-Fong J, Irving M, Rogoff D. Savarirayan R, et al. Among authors: cormier daire v. N Engl J Med. 2024 Nov 18. doi: 10.1056/NEJMoa2411790. Online ahead of print. N Engl J Med. 2024. PMID: 39555818
Regulated N-glycosylation controls chaperone function and receptor trafficking.
Ma M, Dubey R, Jen A, Pusapati GV, Singal B, Shishkova E, Overmyer KA, Cormier-Daire V, Fedry J, Aravind L, Coon JJ, Rohatgi R. Ma M, et al. Among authors: cormier daire v. Science. 2024 Nov 8;386(6722):667-672. doi: 10.1126/science.adp7201. Epub 2024 Nov 7. Science. 2024. PMID: 39509507
RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront.
Vanlerberghe C, Frénois F, Smol T, Jourdain AS, Escande F, Aït-Yahya E, Aldeeri AA, Yu TW, Cormier-Daire V, Ghoumid J, Jacob M, Newbury-Ecob R, Manouvrier S, Platon J, Sailer S, Brunelle P, Da Costa L, Petit F. Vanlerberghe C, et al. Among authors: cormier daire v. Genet Med. 2024 Dec;26(12):101266. doi: 10.1016/j.gim.2024.101266. Epub 2024 Sep 10. Genet Med. 2024. PMID: 39268718
Correction: Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.
Vanbelleghem E, Van Damme T, Beyens A, Symoens S, Claes K, De Backer J, Meerschaut I, Vanommeslaeghe F, Delanghe SE, van den Ende J, Beyltjens T, Scimone ER, Lindsay ME, Schimmenti LA, Hinze AM, Dunn E, Gomez-Ospina N, Vandernoot I, Delguste T, Coppens S, Cormier-Daire V, Tartaglia M, Garavelli L, Shieh J, Demir Ş, Arslan Ateş E, Zenker M, Rohanizadegan M, Rivera-Cruz G, Douzgou S; Myhre Syndrome Foundation; Lin AE, Callewaert B. Vanbelleghem E, et al. Among authors: cormier daire v. Eur J Hum Genet. 2024 Sep 10. doi: 10.1038/s41431-024-01690-z. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39256535 No abstract available.
490 results