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Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal recessive syndrome.
Mégarbané A, Hana S, El-Hayek S, Gambarini A, Al-Ali MT, Delague V. Mégarbané A, et al. Among authors: gambarini a. Am J Med Genet A. 2020 Aug;182(8):1865-1872. doi: 10.1002/ajmg.a.61730. Epub 2020 Jul 2. Am J Med Genet A. 2020. PMID: 32618096
Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review.
Nair P, El-Bazzal L, Mansour H, Sabbagh S, Al-Ali MT, Gambarini A, Delague V, El-Hayek S, Mégarbané A. Nair P, et al. Among authors: gambarini a. J Pediatr Genet. 2019 Dec;8(4):252-256. doi: 10.1055/s-0039-1693664. Epub 2019 Jul 30. J Pediatr Genet. 2019. PMID: 31687267 Free PMC article.
SOX11-related syndrome: report on a new case and review.
Wakim V, Nair P, Delague V, Bizzari S, Al-Ali MT, Castro C, Gambarini A, El-Hayek S, Megarbane A. Wakim V, et al. Among authors: gambarini a. Clin Dysmorphol. 2021 Jan;30(1):44-49. doi: 10.1097/MCD.0000000000000348. Clin Dysmorphol. 2021. PMID: 33086258 Review. No abstract available.
Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial.
Mircher C, Sacco S, Bouis C, Gallard J, Pichot A, Le Galloudec E, Cieuta C, Marey I, Greiner-Mahler O, Dorison N, Gambarini A, Stora S, Durand S, Polak M, Baruchel A, Schlumberger E, Dewailly J, Azar-Kolakez A, Guéant-Rodriguez RM, Guéant JL, Borderie D, Bonnefont-Rousselot D, Blondiaux E, Ravel A, Sturtz FG. Mircher C, et al. Among authors: gambarini a. Genet Med. 2020 Jan;22(1):44-52. doi: 10.1038/s41436-019-0597-8. Epub 2019 Jul 8. Genet Med. 2020. PMID: 31281181 Free article. Clinical Trial.
Safety and preliminary efficacy on cognitive performance and adaptive functionality of epigallocatechin gallate (EGCG) in children with Down syndrome. A randomized phase Ib clinical trial (PERSEUS study).
Cieuta-Walti C, Cuenca-Royo A, Langohr K, Rakic C, López-Vílchez MÁ, Lirio J, González-Lamuño Leguina D, González TB, García JG, Roure MR, Aldea-Perona A, Forcano L, Gomis-Gonzalez M, Cés SV, Lacaille F, Ravel A, Mircher C, Walti H, Janel N, Dairou J, Lévy M, Durand S, Dierssen M, Sacco S, Fornell RT; PERSEUS Study Group. Cieuta-Walti C, et al. Genet Med. 2022 Oct;24(10):2004-2013. doi: 10.1016/j.gim.2022.06.011. Epub 2022 Aug 11. Genet Med. 2022. PMID: 35951014 Free article. Clinical Trial.
46 results