BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

218 related articles for article (PubMed ID: 28100473)

  • 1. Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with
    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; 54(8):537-543. PubMed ID: 28100473
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 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. Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.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]  

  • 6. 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]  

  • 7. [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]  

  • 8. 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]  

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

  • 10. 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]  

  • 11. [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; 39(11):1228-1232. PubMed ID: 36317208
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in
    Verhoeven W; Egger J; Räkers E; van Erkelens A; Pfundt R; Willemsen MH
    Neuropsychiatr Dis Treat; 2018; 14():867-870. PubMed ID: 29628764
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel mutation in the
    Li JR; Huang Z; Lu Y; Ji QY; Jiang MY; Yang F
    World J Clin Cases; 2020 Dec; 8(24):6465-6472. PubMed ID: 33392332
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 11.