These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

198 related items for PubMed ID: 35276034

  • 1. 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(5):e1924. PubMed ID: 35276034
    [Abstract] [Full Text] [Related]

  • 2. 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; 170(7):1863-7. PubMed ID: 27075689
    [Abstract] [Full Text] [Related]

  • 3. 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; 25(2):183-191. PubMed ID: 27901041
    [Abstract] [Full Text] [Related]

  • 4. [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]

  • 5. 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 02; 64(1):104107. PubMed ID: 33242595
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. [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]

  • 9. 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]

  • 10.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 12.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 13. [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]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16. [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]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18. Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.
    Cuddapah VA, Dubbs HA, Adang L, Kugler SL, McCormick EM, Zolkipli-Cunningham Z, Ortiz-González XR, McCormack S, Zackai E, Licht DJ, Falk MJ, Marsh ED.
    Am J Med Genet A; 2021 Jun 10; 185(6):1700-1711. PubMed ID: 33751773
    [Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 10.