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Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition.
Bayard C, Segna E, Taverne M, Fraissenon A, Hennocq Q, Periou B, Zerbib L, Ladraa S, Chapelle C, Hoguin C, Kaltenbach S, Villarese P, Asnafi V, Broissand C, Nemazanyy I, Autret G, Goudin N, Legendre C, Authier FJ, Viel T, Tavitian B, Gitiaux C, Fraitag S, Duong JP, Delcros C, Sergent B, Picard A, Dussiot M, Guibaud L, Khonsari R, Canaud G. Bayard C, et al. Among authors: khonsari r. J Exp Med. 2023 Nov 6;220(11):e20230926. doi: 10.1084/jem.20230926. Epub 2023 Sep 15. J Exp Med. 2023. PMID: 37712948 Free PMC article.
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. 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
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. 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
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.
Humanitarian Facial Recognition for Rare Craniofacial Malformations.
Hennocq Q, Bongibault T, Garcelon N, Khonsari RH. Hennocq Q, et al. Plast Reconstr Surg Glob Open. 2024 May 16;12(5):e5780. doi: 10.1097/GOX.0000000000005780. eCollection 2024 May. Plast Reconstr Surg Glob Open. 2024. PMID: 38756957 Free PMC article.
215 results