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Page 1
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Ruault V, Burger P, Gradels-Hauguel J, Ruiz N; Xtraordinaire; Jamra RA, Afenjar A, Alembik Y, Alessandri JL, Arpin S, Barcia G, Bendová Š, Bruel AL, Charles P, Chatron N, Chopra M, Conrad S, Daire VC, Cospain A, Coubes C, Coursimault J, Delahaye-Duriez A, Doco M, Dufour W, Durand B, Engel C, Faivre L, Ferroul F, Fradin M, Frenkiel H, Fusco C, Garavelli L, Garde A, Gerard B, Germanaud D, Goujon L, Gouronc A, Ginglinger E, Goldenberg A, Hancarova M, Havlovicová M, Heron D, Isidor B, Marçais NJ, Keren B, Koch-Hogrebe M, Kuentz P, Lamure V, Lebre AS, Lecoquierre F, Lehman N, Lesca G, Lyonnet S, Martin D, Mignot C, Neuhann TM, Nicolas G, Nizon M, Petit F, Philippe C, Piton A, Pollazzon M, Prchalová D, Putoux A, Rio M, Rondeau S, Rossi M, Sabbagh Q, Saugier-Veber P, Schmetz A, Steffann J, Thauvin-Robinet C, Toutain A, Them FTM, Trimarchi G, Vincent M, Vlčková M, Wieczorek D, Willems M, Yauy K, Zelinová M, Ziegler A; GENIDA Project; Chaumette B, Sadikovic B, Mandel JL, Geneviève D. Ruault V, et al. Among authors: germanaud d. Mol Genet Genomic Med. 2024 Jan;12(1):e2363. doi: 10.1002/mgg3.2363. Mol Genet Genomic Med. 2024. PMID: 38284452 Free PMC article.
Mapping corpus callosum surface reduction in fetal alcohol spectrum disorders with sulci and connectivity-based parcellation.
Fraize J, Convert G, Leprince Y, Sylvestre-Marconville F, Kerdreux E, Auzias G, Lefèvre J, Delorme R, Elmaleh-Bergès M, Hertz-Pannier L, Germanaud D. Fraize J, et al. Among authors: germanaud d. Front Neurosci. 2023 Jun 9;17:1188367. doi: 10.3389/fnins.2023.1188367. eCollection 2023. Front Neurosci. 2023. PMID: 37360177 Free PMC article.
Tackling hypo and hyper sensory processing heterogeneity in autism: From clinical stratification to genetic pathways.
Lefebvre A, Tillmann J, Cliquet F, Amsellem F, Maruani A, Leblond C, Beggiato A, Germanaud D, Amestoy A, Ly-Le Moal M, Umbricht D, Chatham C, Murtagh L, Bouvard M, Leboyer M, Charman T, Bourgeron T, Delorme R, Dumas G; and the EU-AIMS LEAP group. Lefebvre A, et al. Among authors: germanaud d. Autism Res. 2023 Feb;16(2):364-378. doi: 10.1002/aur.2861. Epub 2022 Dec 4. Autism Res. 2023. PMID: 36464763 Free article.
Enhancing fetal alcohol spectrum disorders diagnosis with a classifier based on the intracerebellar gradient of volumetric undersizing.
Fraize J, Fischer C, Elmaleh-Bergès M, Kerdreux E, Beggiato A, Ntorkou A, Duchesnay E, Bekha D, Boespflug-Tanguy O, Delorme R, Hertz-Pannier L, Germanaud D. Fraize J, et al. Among authors: germanaud d. Hum Brain Mapp. 2023 Aug 1;44(11):4321-4336. doi: 10.1002/hbm.26348. Epub 2023 May 20. Hum Brain Mapp. 2023. PMID: 37209313 Free PMC article.
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.
Dentici ML, Niceta M, Lepri FR, Mancini C, Priolo M, Bonnard AA, Cappelletti C, Leoni C, Ciolfi A, Pizzi S, Cordeddu V, Rossi C, Ferilli M, Mucciolo M, Colona VL, Fauth C, Bellini M, Biasucci G, Sinibaldi L, Briuglia S, Gazzin A, Carli D, Memo L, Trevisson E, Schiavariello C, Luca M, Novelli A, Michot C, Sweertvaegher A, Germanaud D, Scarano E, De Luca A, Zampino G, Zenker M, Mussa A, Dallapiccola B, Cavé H, Digilio MC, Tartaglia M. Dentici ML, et al. Among authors: germanaud d. Eur J Hum Genet. 2024 Aug;32(8):954-963. doi: 10.1038/s41431-024-01642-7. Epub 2024 Jun 1. Eur J Hum Genet. 2024. PMID: 38824261
Exploring the multidimensional nature of repetitive and restricted behaviors and interests (RRBI) in autism: neuroanatomical correlates and clinical implications.
Lefebvre A, Traut N, Pedoux A, Maruani A, Beggiato A, Elmaleh M, Germanaud D, Amestoy A, Ly-Le Moal M, Chatham C, Murtagh L, Bouvard M, Alisson M, Leboyer M, Bourgeron T, Toro R, Dumas G, Moreau C, Delorme R. Lefebvre A, et al. Among authors: germanaud d. Mol Autism. 2023 Nov 27;14(1):45. doi: 10.1186/s13229-023-00576-z. Mol Autism. 2023. PMID: 38012709 Free PMC article.
Questioning cognitive heterogeneity and intellectual functioning in fetal alcohol spectrum disorders from the Wechsler Intelligence Scale for Children.
Kerdreux E, Fraize J, Garzón P, Chalain E, Etchebarren L, Sitbon D, Maruani A, Boespflug-Tanguy O, Hertz-Pannier L, Noulhiane M, Pinabiaux C, Germanaud D. Kerdreux E, et al. Among authors: germanaud d. Clin Neuropsychol. 2024 Jul;38(5):1109-1132. doi: 10.1080/13854046.2023.2281703. Epub 2023 Nov 16. Clin Neuropsychol. 2024. PMID: 37974061
[Use of neurodevelopmental disorder screening tool in primary care : A multicenter observational study].
Chastang J, Bruneau M, Mallick L, Gavet A, Hamidi Y, Roger E, Diaby A, Galvao E, Desportes V, Germanaud D, Desgrez V, Saldanha-Gomes C, Ibanez G. Chastang J, et al. Among authors: germanaud d. Rev Epidemiol Sante Publique. 2023 Jun;71(3):101595. doi: 10.1016/j.respe.2023.101595. Epub 2023 Apr 15. Rev Epidemiol Sante Publique. 2023. PMID: 37068363 French.
42 results