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Journal Abstract Search

183 related items for PubMed ID: 27075689

  • 21. [Analysis of ASXL3 gene variant in a child with Bainbridge-Ropers syndrome].
    Duan F, Zhai Y, Kong X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Mar 10; 38(3):275-277. PubMed ID: 33751541
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  • 22. Bainbridge-Ropers Syndrome in a Texan Boy: A Case Report and Review of the Literature.
    Siu Xiao T, Colombari Arce G, Rojas Marron A, Benitez GA, Schwanecke R.
    Cureus; 2022 Dec 10; 14(12):e32902. PubMed ID: 36699804
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  • 23. [A case of Bainbridge-Ropers syndrome with autism in conjunct with ASXL3 gene variant and its clinical analysis].
    Zheng S, Chen H, Mo M.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jul 10; 38(7):671-673. PubMed ID: 34247375
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  • 24. 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 10; 140():166-170. PubMed ID: 29367179
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  • 25. 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 10; 53(5):361-365. PubMed ID: 35863334
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  • 26. 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
    [Abstract] [Full Text] [Related]

  • 27. ASXL3-related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism.
    Woods E, Holmes N, Albaba S, Evans IR, Balasubramanian M.
    Clin Genet; 2024 May 03; 105(5):470-487. PubMed ID: 38420660
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  • 28. Examining the neurodevelopmental and motor phenotypes of Bohring-Opitz syndrome (ASXL1) and Bainbridge-Ropers syndrome (ASXL3).
    Ayoub MC, Anderson JT, Russell BE, Wilson RB.
    Front Neurosci; 2023 May 03; 17():1244176. PubMed ID: 38027485
    [Abstract] [Full Text] [Related]

  • 29. Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.
    Urreizti R, Roca-Ayats N, Trepat J, Garcia-Garcia F, Aleman A, Orteschi D, Marangi G, Neri G, Opitz JM, Dopazo J, Cormand B, Vilageliu L, Balcells S, Grinberg D.
    Am J Med Genet A; 2016 Jan 03; 170A(1):24-31. PubMed ID: 26768331
    [Abstract] [Full Text] [Related]

  • 30. 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 03; 33(7):484-486. PubMed ID: 28431838
    [No Abstract] [Full Text] [Related]

  • 31. [Report of a child with Bainbridge-Ropers syndrome due to a novel variant of ASXL3 gene and a literature review].
    Jiang Y, Li R, Li X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Aug 10; 41(8):966-972. PubMed ID: 39097281
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  • 34. Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders.
    Ropers HH, Wienker T.
    Eur J Med Genet; 2015 Dec 10; 58(12):715-8. PubMed ID: 26506440
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  • 38. Bohring-Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother.
    Bedoukian E, Copenheaver D, Bale S, Deardorff M.
    Am J Med Genet A; 2018 May 10; 176(5):1249-1252. PubMed ID: 29681100
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  • 40. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
    Machol K, Rousseau J, Ehresmann S, Garcia T, Nguyen TTM, Spillmann RC, Sullivan JA, Shashi V, Jiang YH, Stong N, Fiala E, Willing M, Pfundt R, Kleefstra T, Cho MT, McLaughlin H, Rosello Piera M, Orellana C, Martínez F, Caro-Llopis A, Monfort S, Roscioli T, Nixon CY, Buckley MF, Turner A, Jones WD, van Hasselt PM, Hofstede FC, van Gassen KLI, Brooks AS, van Slegtenhorst MA, Lachlan K, Sebastian J, Madan-Khetarpal S, Sonal D, Sakkubai N, Thevenon J, Faivre L, Maurel A, Petrovski S, Krantz ID, Tarpinian JM, Rosenfeld JA, Lee BH, Undiagnosed Diseases Network, Campeau PM.
    Am J Hum Genet; 2019 Jan 03; 104(1):164-178. PubMed ID: 30580808
    [Abstract] [Full Text] [Related]

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