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441 results

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Page 1
Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum.
Pingault V, Neiva-Vaz C, de Oliveira J, Martínez-Gil N, Lasa-Aranzasti A, Campos B, Lakeman IMM, Nibbeling EAR, Stoeva R, Jayakar P, Dabir T, Elloumi HZ, Strong A, Hanein S, Picard A, Ochsenbein F, Blanc P, Amiel J. Pingault V, et al. Among authors: picard a. Eur J Hum Genet. 2024 Sep 27. doi: 10.1038/s41431-024-01698-5. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39333427
An automatic facial landmarking for children with rare diseases.
Hennocq Q, Bongibault T, Bizière M, Delassus O, Douillet M, Cormier-Daire V, Amiel J, Lyonnet S, Marlin S, Rio M, Picard A, Khonsari RH, Garcelon N. Hennocq Q, et al. Among authors: picard a. Am J Med Genet A. 2023 May;191(5):1210-1221. doi: 10.1002/ajmg.a.63126. Epub 2023 Jan 30. Am J Med Genet A. 2023. PMID: 36714960
AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes.
Hennocq Q, Bongibault T, Marlin S, Amiel J, Attie-Bitach T, Baujat G, Boutaud L, Carpentier G, Corre P, Denoyelle F, Djate Delbrah F, Douillet M, Galliani E, Kamolvisit W, Lyonnet S, Milea D, Pingault V, Porntaveetus T, Touzet-Roumazeille S, Willems M, Picard A, Rio M, Garcelon N, Khonsari RH. Hennocq Q, et al. Among authors: picard a. Front Pediatr. 2023 Aug 17;11:1171277. doi: 10.3389/fped.2023.1171277. eCollection 2023. Front Pediatr. 2023. PMID: 37664547 Free PMC article.
Biallelic truncating variants in VGLL2 cause syngnathia in humans.
Agostini V, Tessier A, Djaziri N, Khonsari RH, Galliani E, Kurihara Y, Honda M, Kurihara H, Hidaka K, Tuncbilek G, Picard A, Konas E, Amiel J, Gordon CT. Agostini V, et al. Among authors: picard a. J Med Genet. 2023 Nov;60(11):1084-1091. doi: 10.1136/jmg-2022-109059. Epub 2023 Sep 4. J Med Genet. 2023. PMID: 37666660
Artificial intelligence-based diagnosis in fetal pathology using external ear shapes.
Hennocq Q, Garcelon N, Bongibault T, Bouygues T, Marlin S, Amiel J, Boutaud L, Douillet M, Lyonnet S, Pingault V, Picard A, Rio M, Attie-Bitach T, Khonsari RH, Roux N. Hennocq Q, et al. Among authors: picard a. Prenat Diagn. 2024 Sep;44(10):1150-1158. doi: 10.1002/pd.6577. Epub 2024 Apr 18. Prenat Diagn. 2024. PMID: 38635411
Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.
Hennocq Q, Lienhard O, Rao D, Amiel J, Benichou L, Bongibault T, Hidalgo AB, Cormier-Daire V, Lyonnet S, Picard A, Rio M, Zaiter A, Garcelon N, Tkemaladze T, Khonsari RH. Hennocq Q, et al. Among authors: picard a. Clin Genet. 2024 Dec 26. doi: 10.1111/cge.14682. Online ahead of print. Clin Genet. 2024. PMID: 39726094
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: picard a. 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.
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: picard a. Sci Rep. 2024 Jan 28;14(1):2330. doi: 10.1038/s41598-024-52691-3. Sci Rep. 2024. PMID: 38282012 Free PMC article.
Normative data on nasalance scores for French speaking children.
Barbier H, Redouloux L, Chapuis-Vandenbogaerde C, Picard A, Amelot A, Fougeron C, Sanquer E, Kadlub N. Barbier H, et al. Among authors: picard a. J Stomatol Oral Maxillofac Surg. 2024 Sep 21;126(3):102089. doi: 10.1016/j.jormas.2024.102089. Online ahead of print. J Stomatol Oral Maxillofac Surg. 2024. PMID: 39313155
441 results