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Journal Abstract Search

187 related items for PubMed ID: 32517662

  • 21. Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1.
    Bacrot S, Mechler C, Talhi N, Martin-Coignard D, Roth P, Michot C, Ichkou A, Alibeu O, Nitschke P, Thomas S, Vekemans M, Razavi F, Boutaud L, Attie-Bitach T.
    Birth Defects Res; 2018 Apr 03; 110(6):538-542. PubMed ID: 29316359
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  • 22. Modeling Bainbridge-Ropers Syndrome in Xenopus laevis Embryos.
    Lichtig H, Artamonov A, Polevoy H, Reid CD, Bielas SL, Frank D.
    Front Physiol; 2020 Apr 03; 11():75. PubMed ID: 32132929
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  • 24. ASXL3 De Novo Variant-Related Neurodevelopmental Disorder Presenting as Dystonic Cerebral Palsy.
    Švantnerová J, Minár M, Radová S, Kolníková M, Vlkovič P, Zech M.
    Neuropediatrics; 2022 Oct 03; 53(5):361-365. PubMed ID: 35863334
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  • 25. Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome.
    Myers KA, White SM, Mohammed S, Metcalfe KA, Fry AE, Wraige E, Vasudevan PC, Balasubramanian M, Scheffer IE.
    Epilepsy Res; 2018 Feb 03; 140():166-170. PubMed ID: 29367179
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  • 28. Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3.
    Chinen Y, Nakamura S, Ganaha A, Hayashi S, Inazawa J, Yanagi K, Nakanishi K, Kaname T, Naritomi K.
    Clin Case Rep; 2018 Feb 03; 6(2):330-336. PubMed ID: 29445472
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  • 29. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
    Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM, Undiagnosed Diseases NetworkNIH Common Fund, Bethesda, MD 20892, USA., Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CT, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortüm F.
    Am J Hum Genet; 2016 Oct 06; 99(4):991-999. PubMed ID: 27693232
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  • 32. Novel Nonsense Mutation in ASXL3 causing Bainbridge-Ropers Syndrome.
    Qiao L, Liu Y, Ge J, Li T.
    Indian Pediatr; 2019 Sep 15; 56(9):792-794. PubMed ID: 31638014
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  • 37. Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay.
    Wayhelova M, Oppelt J, Smetana J, Hladilkova E, Filkova H, Makaturova E, Nikolova P, Beharka R, Gaillyova R, Kuglik P.
    Mol Med Rep; 2019 Jul 15; 20(1):505-512. PubMed ID: 31180560
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  • 38. Global developmental delay and postnatal microcephaly: Bainbridge-Ropers syndrome with a new mutation in ASXL3.
    Contreras-Capetillo SN, Vilchis-Zapata ZH, Ribbón-Conde J, Pinto-Escalante D.
    Neurologia (Engl Ed); 2018 Sep 15; 33(7):484-486. PubMed ID: 28431838
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  • 39. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.
    Bainbridge MN, Hu H, Muzny DM, Musante L, Lupski JR, Graham BH, Chen W, Gripp KW, Jenny K, Wienker TF, Yang Y, Sutton VR, Gibbs RA, Ropers HH.
    Genome Med; 2013 Sep 15; 5(2):11. PubMed ID: 23383720
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  • 40. [A case of Okur-Chung syndrome caused by CSNK2A1 gene variation and review of literature].
    Duan HL, Peng J, Pang N, Chen SM, Xiong J, Guang SQ, Yin F.
    Zhonghua Er Ke Za Zhi; 2019 May 02; 57(5):368-372. PubMed ID: 31060130
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