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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

166 related articles for article (PubMed ID: 38027485)

  • 1. 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; 17():1244176. PubMed ID: 38027485
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Modeling Bainbridge-Ropers Syndrome in
    Lichtig H; Artamonov A; Polevoy H; Reid CD; Bielas SL; Frank D
    Front Physiol; 2020; 11():75. PubMed ID: 32132929
    [TBL] [Abstract][Full Text] [Related]  

  • 3. DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes.
    Awamleh Z; Chater-Diehl E; Choufani S; Wei E; Kianmahd RR; Yu A; Chad L; Costain G; Tan WH; Scherer SW; Arboleda VA; Russell BE; Weksberg R
    Eur J Hum Genet; 2022 Jun; 30(6):695-702. PubMed ID: 35361921
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 64(1):104107. PubMed ID: 33242595
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 185(6):1700-1711. PubMed ID: 33751773
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
    Shashi V; Pena LD; Kim K; Burton B; Hempel M; Schoch K; Walkiewicz M; McLaughlin HM; Cho M; Stong N; Hickey SE; Shuss CM; ; Freemark MS; Bellet JS; Keels MA; Bonner MJ; El-Dairi M; Butler M; Kranz PG; Stumpel CT; Klinkenberg S; Oberndorff K; Alawi M; Santer R; Petrovski S; Kuismin O; Korpi-Heikkilä S; Pietilainen O; Aarno P; Kurki MI; Hoischen A; Need AC; Goldstein DB; Kortüm F
    Am J Hum Genet; 2016 Oct; 99(4):991-999. PubMed ID: 27693232
    [TBL] [Abstract][Full Text] [Related]  

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

  • 10. [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; 56(2):138-141. PubMed ID: 29429203
    [No Abstract]   [Full Text] [Related]  

  • 11. 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; 25(3):597-608. PubMed ID: 26647312
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; ; Newbury-Ecob R; Ockeloen CW; Prontera P; Lynch SA; Li D; Graham JM; Pierson TM; Balasubramanian M
    Am J Med Genet A; 2021 Nov; 185(11):3446-3458. PubMed ID: 34436830
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A de novo nonsense mutation in
    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; 4(3):. PubMed ID: 29305346
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 170A(1):24-31. PubMed ID: 26768331
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 191(1):29-36. PubMed ID: 36177608
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 20(1):287. PubMed ID: 32517662
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders.
    Ropers HH; Wienker T
    Eur J Med Genet; 2015 Dec; 58(12):715-8. PubMed ID: 26506440
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 53(5):361-365. PubMed ID: 35863334
    [No Abstract]   [Full Text] [Related]  

  • 19. 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; 105(5):470-487. PubMed ID: 38420660
    [TBL] [Abstract][Full Text] [Related]  

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

    [Next]    [New Search]
    of 9.