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Journal Abstract Search

144 related items for PubMed ID: 29445472

  • 1. 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; 6(2):330-336. PubMed ID: 29445472
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  • 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
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  • 3. 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 02; 10(5):e1924. PubMed ID: 35276034
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  • 6. 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
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  • 7. 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 26; 170(7):1863-7. PubMed ID: 27075689
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  • 8. 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 26; 25(2):183-191. PubMed ID: 27901041
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  • 9. Modeling Bainbridge-Ropers Syndrome in Xenopus laevis Embryos.
    Lichtig H, Artamonov A, Polevoy H, Reid CD, Bielas SL, Frank D.
    Front Physiol; 2020 Feb 26; 11():75. PubMed ID: 32132929
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  • 10. Novel compound heterozygous ASXL3 mutation causing Bainbridge-ropers like syndrome and primary IGF1 deficiency.
    Giri D, Rigden D, Didi M, Peak M, McNamara P, Senniappan S.
    Int J Pediatr Endocrinol; 2017 Feb 26; 2017():8. PubMed ID: 28785287
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  • 11. 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 26; 64(1):104107. PubMed ID: 33242595
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  • 15. 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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  • 17. 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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  • 18. 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
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  • 19. [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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