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Journal Abstract Search

367 related items for PubMed ID: 34886823

  • 1. Case report : a novel ASXL3 gene variant in a Sudanese boy.
    Wu K, Cong Y.
    BMC Pediatr; 2021 Dec 09; 21(1):557. PubMed ID: 34886823
    [Abstract] [Full Text] [Related]

  • 2. [Bainbridge-Ropers syndrome with ASXL3 gene variation in a child and literature review].
    Zhang R, He XH, Lin HY, Yang XH.
    Zhonghua Er Ke Za Zhi; 2018 Feb 02; 56(2):138-141. PubMed ID: 29429203
    [Abstract] [Full Text] [Related]

  • 3. Novel mutation in the ASXL3 gene in a Chinese boy with microcephaly and speech impairment: A case report.
    Li JR, Huang Z, Lu Y, Ji QY, Jiang MY, Yang F.
    World J Clin Cases; 2020 Dec 26; 8(24):6465-6472. PubMed ID: 33392332
    [Abstract] [Full Text] [Related]

  • 4. [Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Bainbridge-Ropers syndrome].
    Li J, Xu J, She M, Shi P, Kong X, Wang L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Nov 10; 39(11):1228-1232. PubMed ID: 36317208
    [Abstract] [Full Text] [Related]

  • 5. De novo nonsense variant in ASXL3 in a Chinese girl causing Bainbridge-Ropers syndrome: A case report and review of literature.
    Wang Q, Zhang J, Jiang N, Xie J, Yang J, Zhao X.
    Mol Genet Genomic Med; 2022 May 10; 10(5):e1924. PubMed ID: 35276034
    [Abstract] [Full Text] [Related]

  • 6. Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions.
    Yu KP, Luk HM, Fung JLF, Chung BH, Lo IF.
    Eur J Med Genet; 2021 Jan 10; 64(1):104107. PubMed ID: 33242595
    [Abstract] [Full Text] [Related]

  • 7. Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.
    Balasubramanian M, Willoughby J, Fry AE, Weber A, Firth HV, Deshpande C, Berg JN, Chandler K, Metcalfe KA, Lam W, Pilz DT, Tomkins S.
    J Med Genet; 2017 Aug 10; 54(8):537-543. PubMed ID: 28100473
    [Abstract] [Full Text] [Related]

  • 8. A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome.
    Koboldt DC, Mihalic Mosher T, Kelly BJ, Sites E, Bartholomew D, Hickey SE, McBride K, Wilson RK, White P.
    Cold Spring Harb Mol Case Stud; 2018 Jun 10; 4(3):. PubMed ID: 29305346
    [Abstract] [Full Text] [Related]

  • 9. [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
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
    Kuechler A, Czeschik JC, Graf E, Grasshoff U, Hüffmeier U, Busa T, Beck-Woedl S, Faivre L, Rivière JB, Bader I, Koch J, Reis A, Hehr U, Rittinger O, Sperl W, Haack TB, Wieland T, Engels H, Prokisch H, Strom TM, Lüdecke HJ, Wieczorek D.
    Eur J Hum Genet; 2017 Feb 10; 25(2):183-191. PubMed ID: 27901041
    [Abstract] [Full Text] [Related]

  • 12. Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report.
    Yang L, Guo B, Zhu W, Wang L, Han B, Che Y, Guo L.
    BMC Pediatr; 2020 Jun 09; 20(1):287. PubMed ID: 32517662
    [Abstract] [Full Text] [Related]

  • 13. Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
    Hori I, Miya F, Ohashi K, Negishi Y, Hattori A, Ando N, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S.
    Am J Med Genet A; 2016 Jul 09; 170(7):1863-7. PubMed ID: 27075689
    [Abstract] [Full Text] [Related]

  • 14. [Diagnosis of Bainbridge-Ropers syndrome due to de novo ASXL3 variant by high throughput sequencing].
    Lyu Y, Zhao D, Zhang K, Gao M, Ma J, Wang D, Gai Z, Liu Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Apr 10; 37(4):452-454. PubMed ID: 32219835
    [Abstract] [Full Text] [Related]

  • 15. De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.
    Srivastava A, Ritesh KC, Tsan YC, Liao R, Su F, Cao X, Hannibal MC, Keegan CE, Chinnaiyan AM, Martin DM, Bielas SL.
    Hum Mol Genet; 2016 Feb 01; 25(3):597-608. PubMed ID: 26647312
    [Abstract] [Full Text] [Related]

  • 16. Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype.
    Schirwani S, Woods E, Koolen DA, Ockeloen CW, Lynch SA, Kavanagh K, Graham JM, Grand K, Pierson TM, Chung JM, Balasubramanian M.
    Am J Med Genet A; 2023 Jan 01; 191(1):29-36. PubMed ID: 36177608
    [Abstract] [Full Text] [Related]

  • 17. Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
    Schirwani S, Albaba S, Carere DA, Guillen Sacoto MJ, Milan Zamora F, Si Y, Rabin R, Pappas J, Renaud DL, Hauser N, Reid E, Blanchet P, Foulds N, Dixit A, Fisher R, Armstrong R, Isidor B, Cogne B, Schrier Vergano S, Demirdas S, Dykzeul N, Cohen JS, Grand K, Morel D, Slavotinek A, Albassam HF, Naik S, Dean J, Ragge N, Costa C, Tedesco MG, Harrison RE, Bouman A, Palen E, Challman TD, Willemsen MH, Vogt J, Cunniff C, Bergstrom K, Walia JS, Bruel AL, Kini U, Alkuraya FS, Slegesky V, Meeks N, Girotto P, Johnson D, DDD StudyWelcome Trust Sanger Institute, Cambridge, UK., Newbury-Ecob R, Ockeloen CW, Prontera P, Lynch SA, Li D, Graham JM, Pierson TM, Balasubramanian M.
    Am J Med Genet A; 2021 Nov 01; 185(11):3446-3458. PubMed ID: 34436830
    [Abstract] [Full Text] [Related]

  • 18. [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
    [Abstract] [Full Text] [Related]

  • 19. [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
    [Abstract] [Full Text] [Related]

  • 20. 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 10; 105(5):470-487. PubMed ID: 38420660
    [Abstract] [Full Text] [Related]

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