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Journal Abstract Search

144 related items for PubMed ID: 29445472

  • 21.
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  • 22. 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
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  • 23. A case of Bainbridge-Ropers syndrome with breath holding spells and intractable epilepsy: challenges in diagnosis and management.
    Khan TR, Dolce A, Goodspeed K.
    BMC Neurol; 2022 Feb 16; 22(1):60. PubMed ID: 35172777
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  • 24. 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 16; 191(1):29-36. PubMed ID: 36177608
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  • 27. Comorbid Psychiatric Aspects of Bainbridge-Ropers Syndrome.
    Ikekwere JC, Osuagwu FC, LePlatte D, Ghaziuddin M.
    Prim Care Companion CNS Disord; 2021 Jun 03; 23(3):. PubMed ID: 34086428
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  • 28. 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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  • 30. 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
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  • 31. Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome.
    Dad R, Walker S, Scherer SW, Hassan MJ, Kang SY, Minassian BA.
    Neurol Genet; 2017 Oct 03; 3(5):e189. PubMed ID: 28955728
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  • 32. [Analysis of clinical feature and genetic variants in two Chinese pedigrees affected with Bainbridge-Ropers syndrome].
    Tie X, Yang Y, He C, Zhang L, Che F.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Aug 10; 39(8):836-841. PubMed ID: 35929932
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  • 34. Anatomical relationships between Sylvian fissure and the sphenoid ridge.
    Lin J, Nauta HJ, Olivero W.
    Neurol Res; 2001 Sep 10; 23(6):645-6. PubMed ID: 11547935
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  • 35. Mosaicism in ASXL3-related syndrome: Description of five patients from three families.
    Schirwani S, Hauser N, Platt A, Punj S, Prescott K, Canham N, Study DDD, Mansour S, Balasubramanian M.
    Eur J Med Genet; 2020 Jun 10; 63(6):103925. PubMed ID: 32240826
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  • 40. Sylvian Fissure Meningioma in Childhood: Report of 3 Cases and Review of the Literature.
    Amirjamshidi A, Khalatbari MR, Abbasioun K, Ghasemi B.
    Pediatr Neurosurg; 2019 Jun 10; 54(4):270-276. PubMed ID: 31238311
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