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Page 1
Pediatric Tumors and Developmental Anomalies: A French Nationwide Cohort Study.
Semeraro M, Fouquet C, Vial Y, Amiel J, Galmiche L, Cretolle C, Blanc T, Jolaine V, Garcelon N, Entz-Werle N, Pellier I, Vérité C, Sophie Taque, Coulomb A, Petit A, Corradini N, Bouazza N, Lacour B, Clavel J, Brugières L, Bourdeaut F, Sarnacki S; members of the TED Consortium. Semeraro M, et al. Among authors: amiel j. J Pediatr. 2023 Aug;259:113451. doi: 10.1016/j.jpeds.2023.113451. Epub 2023 May 9. J Pediatr. 2023. PMID: 37169337
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: amiel j. 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
Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.
Tessier A, Roux N, Boutaud L, Lunel E, Hakkakian L, Parisot M, Garfa-Traoré M, Ichkou A, Elkhartoufi N, Bole C, Nitschke P, Amiel J, Martinovic J, Encha-Razavi F, Attié-Bitach T, Thomas S. Tessier A, et al. Among authors: amiel j. Acta Neuropathol Commun. 2023 Feb 20;11(1):29. doi: 10.1186/s40478-023-01519-8. Acta Neuropathol Commun. 2023. PMID: 36803301 Free PMC article.
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.
Werren EA, LaForce GR, Srivastava A, Perillo DR, Li S, Johnson K, Baris S, Berger B, Regan SL, Pfennig CD, de Munnik S, Pfundt R, Hebbar M, Jimenez-Heredia R, Karakoc-Aydiner E, Ozen A, Dmytrus J, Krolo A, Corning K, Prijoles EJ, Louie RJ, Lebel RR, Le TL, Amiel J, Gordon CT, Boztug K, Girisha KM, Shukla A, Bielas SL, Schaffer AE. Werren EA, et al. Among authors: amiel j. Nat Commun. 2024 Feb 22;15(1):1640. doi: 10.1038/s41467-024-45948-y. Nat Commun. 2024. PMID: 38388531 Free PMC article.
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Dodd DO, Mechaussier S, Yeyati PL, McPhie F, Anderson JR, Khoo CJ, Shoemark A, Gupta DK, Attard T, Zariwala MA, Legendre M, Bracht D, Wallmeier J, Gui M, Fassad MR, Parry DA, Tennant PA, Meynert A, Wheway G, Fares-Taie L, Black HA, Mitri-Frangieh R, Faucon C, Kaplan J, Patel M, McKie L, Megaw R, Gatsogiannis C, Mohamed MA, Aitken S, Gautier P, Reinholt FR, Hirst RA, O'Callaghan C, Heimdal K, Bottier M, Escudier E, Crowley S, Descartes M, Jabs EW, Kenia P, Amiel J, Bacci GM, Calogero C, Palazzo V, Tiberi L, Blümlein U, Rogers A, Wambach JA, Wegner DJ, Fulton AB, Kenna M, Rosenfeld M, Holm IA, Quigley A, Hall EA, Murphy LC, Cassidy DM, von Kriegsheim A; Scottish Genomes Partnership16; Genomics England Research Consortium45; Undiagnosed Diseases Network46; Papon JF, Pasquier L, Murris MS, Chalmers JD, Hogg C, Macleod KA, Urquhart DS, Unger S, Aitman TJ, Amselem S, Leigh MW, Knowles MR, Omran H, Mitchison HM, Brown A, Marsh JA, Welburn JPI, Ti SC, Horani A, Rozet JM, Perrault I, Mill P. Dodd DO, et al. Among authors: amiel j. Science. 2024 Apr 26;384(6694):eadf5489. doi: 10.1126/science.adf5489. Epub 2024 Apr 26. Science. 2024. PMID: 38662826
[Exome, genome and incidental findings].
Amiel J, Héron D, Isidor B. Amiel J, et al. Med Sci (Paris). 2024 Apr;40(4):377-380. doi: 10.1051/medsci/2024029. Epub 2024 Apr 23. Med Sci (Paris). 2024. PMID: 38651963 French. No abstract available.
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: amiel j. Prenat Diagn. 2024 Apr 18. doi: 10.1002/pd.6577. Online ahead of print. Prenat Diagn. 2024. PMID: 38635411
932 results