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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 2
2002 7
2003 6
2004 12
2005 16
2006 10
2007 12
2008 17
2009 16
2010 13
2011 23
2012 22
2013 23
2014 26
2015 23
2016 16
2017 14
2018 17
2019 26
2020 24
2021 16
2022 20
2023 19
2024 12

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333 results

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Page 1
Root resorptions induced by genetic disorders: A systematic review.
Dupre N, Riou MC, Isaac J, Ferre F, Cormier-Daire V, Kerner S, de La Dure-Molla M, Nowwarote N, Acevedo AC, Fournier BPJ. Dupre N, et al. Among authors: cormier daire v. Oral Dis. 2024 Apr 2. doi: 10.1111/odi.14942. Online ahead of print. Oral Dis. 2024. PMID: 38566363 Review.
Geleophysic Dysplasia.
Marzin P, Cormier-Daire V. Marzin P, et al. Among authors: cormier daire v. 2009 Sep 22 [updated 2024 Mar 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2009 Sep 22 [updated 2024 Mar 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301776 Free Books & Documents. Review.
Low-dose non-steroidal anti-inflammatory drugs: a promising approach for the treatment of symptomatic bone marrow failure in Ghosal hematodiaphyseal dysplasia.
Bordat J, Suarez F, Cormier-Daire V, De Latour RP, Soulier J, Meignin V, Doyard M, Larcher L, Vanderbecken S, De Fontbrune FS. Bordat J, et al. Among authors: cormier daire v. Haematologica. 2024 Mar 14. doi: 10.3324/haematol.2023.284098. Online ahead of print. Haematologica. 2024. PMID: 38497148 Free article.
Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment.
Dubail J, Rondeau S, Michot C, Baujat G, Capri Y, Thévenon J, Charpie M, Pejin Z, Phan G, Huber C, Cormier-Daire V. Dubail J, et al. Among authors: cormier daire v. J Bone Miner Res. 2024 Apr 19;39(3):287-297. doi: 10.1093/jbmr/zjad020. J Bone Miner Res. 2024. PMID: 38477767
ERN BOND: The key European network leveraging diagnosis, research, and treatment for rare bone conditions.
Casareto L, Appelman-Dijkstra NM, Brandi ML, Chapurlat R, Cormier-Daire V, Hamdy NAT, Heath KE, Horn J, Mantovani G, Mohnike K, Sousa SB, Travessa A, Wekre LL, Zillikens MC, Sangiorgi L; European Reference Network on rare BONe Diseases. Casareto L, et al. Among authors: cormier daire v. Eur J Med Genet. 2024 Apr;68:104916. doi: 10.1016/j.ejmg.2024.104916. Epub 2024 Feb 1. Eur J Med Genet. 2024. PMID: 38296035 Free article.
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Ruault V, Burger P, Gradels-Hauguel J, Ruiz N; Xtraordinaire; Jamra RA, Afenjar A, Alembik Y, Alessandri JL, Arpin S, Barcia G, Bendová Š, Bruel AL, Charles P, Chatron N, Chopra M, Conrad S, Daire VC, Cospain A, Coubes C, Coursimault J, Delahaye-Duriez A, Doco M, Dufour W, Durand B, Engel C, Faivre L, Ferroul F, Fradin M, Frenkiel H, Fusco C, Garavelli L, Garde A, Gerard B, Germanaud D, Goujon L, Gouronc A, Ginglinger E, Goldenberg A, Hancarova M, Havlovicová M, Heron D, Isidor B, Marçais NJ, Keren B, Koch-Hogrebe M, Kuentz P, Lamure V, Lebre AS, Lecoquierre F, Lehman N, Lesca G, Lyonnet S, Martin D, Mignot C, Neuhann TM, Nicolas G, Nizon M, Petit F, Philippe C, Piton A, Pollazzon M, Prchalová D, Putoux A, Rio M, Rondeau S, Rossi M, Sabbagh Q, Saugier-Veber P, Schmetz A, Steffann J, Thauvin-Robinet C, Toutain A, Them FTM, Trimarchi G, Vincent M, Vlčková M, Wieczorek D, Willems M, Yauy K, Zelinová M, Ziegler A; GENIDA Project; Chaumette B, Sadikovic B, Mandel JL, Geneviève D. Ruault V, et al. Among authors: daire vc. Mol Genet Genomic Med. 2024 Jan;12(1):e2363. doi: 10.1002/mgg3.2363. Mol Genet Genomic Med. 2024. PMID: 38284452 Free PMC article.
Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.
Hennocq Q, Willems M, Amiel J, Arpin S, Attie-Bitach T, Bongibault T, Bouygues T, Cormier-Daire V, Corre P, Dieterich K, Douillet M, Feydy J, Galliani E, Giuliano F, Lyonnet S, Picard A, Porntaveetus T, Rio M, Rouxel F, Shotelersuk V, Toutain A, Yauy K, Geneviève D, Khonsari RH, Garcelon N. Hennocq Q, et al. Among authors: cormier daire v. Sci Rep. 2024 Jan 28;14(1):2330. doi: 10.1038/s41598-024-52691-3. Sci Rep. 2024. PMID: 38282012 Free PMC article.
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Jedraszak G, Jobic F, Receveur A, Bilan F, Gilbert-Dussardier B, Tiffany B, Missirian C, Willems M, Odent S, Lucas J, Dubourg C, Schaefer E, Scheidecker S, Lespinasse J, Goldenberg A, Guerrot AM, Joly-Helas G, Chambon P, Le Caignec C, David A, Coutton C, Satre V, Vieville G, Amblard F, Harbuz R, Sanlaville D, Till M, Vincent-Delorme C, Colson C, Andrieux J, Naudion S, Toutain J, Rooryck C, de Fréminville B, Prieur F, Daire VC, Amram D, Kleinfinger P, Schulze MB, Raabe-Meyer G, Courage C, Lemke J, Stefanou EG, Loretta T, Emmanouil M, Tzeli SK, Sodowska H, Anderson J, Nandini A, Copin H, Garçon L, Liehr T, Morin G. Jedraszak G, et al. Among authors: daire vc. Am J Med Genet A. 2024 Apr;194(4):e63476. doi: 10.1002/ajmg.a.63476. Epub 2023 Nov 16. Am J Med Genet A. 2024. PMID: 37974505
Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice.
Semler O, Cormier-Daire V, Lausch E, Bober MB, Carroll R, Sousa SB, Deyle D, Faden M, Hartmann G, Huser AJ, Legare JM, Mohnike K, Rohrer TR, Rutsch F, Smith P, Travessa AM, Verardo A, White KK, Wilcox WR, Hoover-Fong J. Semler O, et al. Among authors: cormier daire v. Adv Ther. 2024 Jan;41(1):198-214. doi: 10.1007/s12325-023-02705-9. Epub 2023 Oct 26. Adv Ther. 2024. PMID: 37882884 Free PMC article.
333 results