BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

124 related articles for article (PubMed ID: 38382213)

  • 1. Generation of a human induced pluripotent stem cell line (FDCHi012-A) from a patient with DYRK1A-related intellectual disability syndrome carrying DYRK1A mutation (c.1024G > T).
    Ge Y; Cheng Y; Yin T; Peng X; Xiong Z; Wu B; Wang H; Xiong M; Zhou W
    Stem Cell Res; 2024 Apr; 76():103345. PubMed ID: 38382213
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Generation of an induced pluripotent stem cell line from a patient with global development delay carrying DYRK1A mutation (c.1730T>A) and a gene correction isogenic iPSC line.
    Ma L; Wu Z; Tang Q; Ji X; Mei Y; Peng T; Xu Q; Zhou W; Xiong M
    Stem Cell Res; 2021 May; 53():102305. PubMed ID: 33813175
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency and autism.
    Widowati EW; Ernst S; Hausmann R; Müller-Newen G; Becker W
    Biol Open; 2018 Apr; 7(4):. PubMed ID: 29700199
    [TBL] [Abstract][Full Text] [Related]  

  • 4. DYRK1A mutations in two unrelated patients.
    Ruaud L; Mignot C; Guët A; Ohl C; Nava C; Héron D; Keren B; Depienne C; Benoit V; Maystadt I; Lederer D; Amsallem D; Piard J
    Eur J Med Genet; 2015 Mar; 58(3):168-74. PubMed ID: 25641759
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
    Courcet JB; Faivre L; Malzac P; Masurel-Paulet A; Lopez E; Callier P; Lambert L; Lemesle M; Thevenon J; Gigot N; Duplomb L; Ragon C; Marle N; Mosca-Boidron AL; Huet F; Philippe C; Moncla A; Thauvin-Robinet C
    J Med Genet; 2012 Dec; 49(12):731-6. PubMed ID: 23099646
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Generation of an iPSC line (CHWi001-A) from peripheral blood mononuclear cells in a patient with intellectual disability and haploinsufficiency of PLPPR4.
    Wan R; Zhang Q; Li H; Xu X; Tang S
    Stem Cell Res; 2020 May; 45():101811. PubMed ID: 32388443
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Generation of an iPSC line (CRICKi001-A) from an individual with a germline SMARCA4 missense mutation and autism spectrum disorder.
    Devito LG; Healy L; Mohammed S; Guillemot F; Dias C
    Stem Cell Res; 2021 May; 53():102304. PubMed ID: 33799280
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Characterization of phenotypic range in DYRK1A haploinsufficiency syndrome using standardized behavioral measures.
    Fenster R; Ziegler A; Kentros C; Geltzeiler A; Green Snyder L; Brooks E; Chung WK
    Am J Med Genet A; 2022 Jul; 188(7):1954-1963. PubMed ID: 35285131
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.
    Luco SM; Pohl D; Sell E; Wagner JD; Dyment DA; Daoud H
    BMC Med Genet; 2016 Feb; 17():15. PubMed ID: 26922654
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.
    Bronicki LM; Redin C; Drunat S; Piton A; Lyons M; Passemard S; Baumann C; Faivre L; Thevenon J; Rivière JB; Isidor B; Gan G; Francannet C; Willems M; Gunel M; Jones JR; Gleeson JG; Mandel JL; Stevenson RE; Friez MJ; Aylsworth AS
    Eur J Hum Genet; 2015 Nov; 23(11):1482-7. PubMed ID: 25920557
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Generation of induced pluripotent stem cell line, NIMHi009-A, from PBMCs of an adult healthy male.
    Arunachal G; Milind Nimonkar M; Raghavendra K; Chetan GK; Mehta B; Markandeya YS
    Stem Cell Res; 2024 Apr; 76():103349. PubMed ID: 38368738
    [TBL] [Abstract][Full Text] [Related]  

  • 12. DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.
    Meissner LE; Macnamara EF; D'Souza P; Yang J; Vezina G; ; Ferreira CR; Zein WM; Tifft CJ; Adams DR
    Mol Genet Genomic Med; 2020 Dec; 8(12):e1544. PubMed ID: 33159716
    [TBL] [Abstract][Full Text] [Related]  

  • 13. DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
    Ji J; Lee H; Argiropoulos B; Dorrani N; Mann J; Martinez-Agosto JA; Gomez-Ospina N; Gallant N; Bernstein JA; Hudgins L; Slattery L; Isidor B; Le Caignec C; David A; Obersztyn E; Wiśniowiecka-Kowalnik B; Fox M; Deignan JL; Vilain E; Hendricks E; Horton Harr M; Noon SE; Jackson JR; Wilkens A; Mirzaa G; Salamon N; Abramson J; Zackai EH; Krantz I; Innes AM; Nelson SF; Grody WW; Quintero-Rivera F
    Eur J Hum Genet; 2015 Nov; 23(11):1473-81. PubMed ID: 25944381
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Derivation of an induced pluripotent stem cell line (FDCHi014-A) from PBMCs of a seven-year-old patient with a truncating NOVA2 variant (c.625del).
    Yin T; Qian Y; Zhang X; Liao Y; Wu B; Wang S; Wang H
    Stem Cell Res; 2024 Apr; 76():103369. PubMed ID: 38430735
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Ocular findings of albinism in
    Ernst J; Alabek ML; Eldib A; Madan-Khetarpal S; Sebastian J; Bhatia A; Liasis A; Nischal KK
    Ophthalmic Genet; 2020 Dec; 41(6):650-655. PubMed ID: 32838606
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Establishment of human induced pluripotent stem cell line (SDQLCHi060-A) from a patient with AUTS2 syndrome carrying a heterozygous mutation in AUTS2 gene.
    Gao C; Liu Y; Liu N; Li Z; Yang X; Yang Y; Xi Y; Tian J; Gai Z
    Stem Cell Res; 2023 Dec; 73():103242. PubMed ID: 37948839
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Generation of an iPSC line (SMCPGi001-A) from a patient with Bain type X-linked mental retardation syndrome carrying HNRNPH2 gene mutation.
    Ma X; Zhu L; Chen W; Sheng M; Peng F; Liang M; Zhao Y; Wang Y; Feng Z
    Stem Cell Res; 2021 Dec; 57():102571. PubMed ID: 34763229
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in
    Cattelani C; Battistella I; Di Leva F; Fioravanti G; Benedicenti F; Stanzial F; Schwienbacher C; Fanelli F; Pramstaller PP; Hicks AA; Conti L; Corti C
    Int J Mol Sci; 2022 Oct; 23(21):. PubMed ID: 36361881
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Case report: A novel
    Zhou C; Zhu H; Xiang Q; Mai J; Wang X; Wang J; Liu S
    Front Neurosci; 2023; 17():1174925. PubMed ID: 37274198
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Zebrafish knockout of Down syndrome gene,
    Kim OH; Cho HJ; Han E; Hong TI; Ariyasiri K; Choi JH; Hwang KS; Jeong YM; Yang SY; Yu K; Park DS; Oh HW; Davis EE; Schwartz CE; Lee JS; Kim HG; Kim CH
    Mol Autism; 2017; 8():50. PubMed ID: 29021890
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.