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 *

128 related articles for article (PubMed ID: 29628764)

  • 1. 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]  

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

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. [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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. Novel compound heterozygous
    Giri D; Rigden D; Didi M; Peak M; McNamara P; Senniappan S
    Int J Pediatr Endocrinol; 2017; 2017():8. PubMed ID: 28785287
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Bainbridge-Ropers Syndrome in a Texan Boy: A Case Report and Review of the Literature.
    Siu Xiao T; Colombari Arce G; Rojas Marron A; Benitez GA; Schwanecke R
    Cureus; 2022 Dec; 14(12):e32902. PubMed ID: 36699804
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 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. 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]  

  • 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; 110(6):538-542. PubMed ID: 29316359
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in
    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
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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; 140():166-170. PubMed ID: 29367179
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Comorbid Psychiatric Aspects of Bainbridge-Ropers Syndrome.
    Ikekwere JC; Osuagwu FC; LePlatte D; Ghaziuddin M
    Prim Care Companion CNS Disord; 2021 Jun; 23(3):. PubMed ID: 34086428
    [No Abstract]   [Full Text] [Related]  

  • 20. [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]  

    [Next]    [New Search]
    of 7.