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191 results

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Page 1
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: khonsari rh. Sci Rep. 2024 Jan 28;14(1):2330. doi: 10.1038/s41598-024-52691-3. Sci Rep. 2024. PMID: 38282012 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. Among authors: khonsari rh. 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
Craniofacial growth and function in achondroplasia: a multimodal 3D study on 15 patients.
Morice A, Taverne M, Eché S, Griffon L, Fauroux B, Leboulanger N, Couloigner V, Baujat G, Cormier-Daire V, Picard A, Legeai-Mallet L, Kadlub N, Khonsari RH. Morice A, et al. Among authors: khonsari rh. Orphanet J Rare Dis. 2023 Apr 18;18(1):88. doi: 10.1186/s13023-023-02664-y. Orphanet J Rare Dis. 2023. PMID: 37072824 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: khonsari rh. 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
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. 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.
Genetic determinism and hemispheric influence in hair whorl formation.
Willems M, Hennocq Q, de Lara ST, Kogane N, Fleury V, Rayssiguier R, Santander JJC, Requena R, Stirnemann J, Khonsari RH. Willems M, et al. Among authors: khonsari rh. J Stomatol Oral Maxillofac Surg. 2024 Apr;125(2):101664. doi: 10.1016/j.jormas.2023.101664. Epub 2023 Oct 31. J Stomatol Oral Maxillofac Surg. 2024. PMID: 37913994
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: khonsari rh. Prenat Diagn. 2024 Apr 18. doi: 10.1002/pd.6577. Online ahead of print. Prenat Diagn. 2024. PMID: 38635411
Humanitarian Facial Recognition for Rare Craniofacial Malformations.
Hennocq Q, Bongibault T, Garcelon N, Khonsari RH. Hennocq Q, et al. Among authors: khonsari rh. 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.
191 results