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486 results

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Page 1
Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta.
Yamaguti PM, de La Dure-Molla M, Monnot S, Cardozo-Amaya YJ, Baujat G, Michot C, Fournier BPJ, Riou MC, Caldas Rosa ECC, Soares de Lima Y, Dos Santos PAC, Alcaraz G, Guerra ENS, Castro LC, de Oliveira SF, Pogue R, Berdal A, de Paula LM, Mazzeu JF, Cormier-Daire V, Acevedo AC. Yamaguti PM, et al. J Dent Res. 2023 Jun;102(6):616-625. doi: 10.1177/00220345231154569. Epub 2023 Mar 23. J Dent Res. 2023. PMID: 36951356
Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review.
Rhamati L, Marcolla A, Guerrot AM, Lerosey Y, Goldenberg A, Serey-Gaut M, Rio M, Cormier Daire V, Baujat G, Lyonnet S, Rubinato E, Jonard L, Rondeau S, Rouillon I, Couloignier V, Jacquemont ML, Dupin Deguine D, Moutton S, Vincent M, Isidor B, Ziegler A, Marie JP, Marlin S. Rhamati L, et al. Int J Pediatr Otorhinolaryngol. 2023 Aug;171:111606. doi: 10.1016/j.ijporl.2023.111606. Epub 2023 Jun 11. Int J Pediatr Otorhinolaryngol. 2023. PMID: 37336020
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. Sci Rep. 2024 Jan 28;14(1):2330. doi: 10.1038/s41598-024-52691-3. Sci Rep. 2024. PMID: 38282012 Free PMC article.
Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies.
Faviez C, Chen X, Garcelon N, Zaidan M, Billot K, Petzold F, Faour H, Douillet M, Rozet JM, Cormier-Daire V, Attié-Bitach T, Lyonnet S, Saunier S, Burgun A. Faviez C, et al. BMC Med Inform Decis Mak. 2024 May 24;24(1):134. doi: 10.1186/s12911-024-02538-8. BMC Med Inform Decis Mak. 2024. PMID: 38789985 Free PMC article.
AI-based diagnosis and phenotype - Genotype correlations in syndromic craniosynostoses.
Hennocq Q, Paternoster G, Collet C, Amiel J, Bongibault T, Bouygues T, Cormier-Daire V, Douillet M, Dunaway DJ, Jeelani NO, van de Lande LS, Lyonnet S, Ong J, Picard A, Rickart AJ, Rio M, Schievano S, Arnaud E, Garcelon N, Khonsari RH. Hennocq Q, et al. Among authors: cormier daire v. J Craniomaxillofac Surg. 2024 Oct;52(10):1172-1187. doi: 10.1016/j.jcms.2024.02.010. Epub 2024 Feb 5. J Craniomaxillofac Surg. 2024. PMID: 39187417 Free article.
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 Sep 10;26(12):101266. doi: 10.1016/j.gim.2024.101266. Online ahead of print. Genet Med. 2024. PMID: 39268718
486 results