BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

191 related articles for article (PubMed ID: 37872450)

  • 21. The cytogenetic constitution of human blastocysts: insights from comprehensive chromosome screening strategies.
    Fragouli E; Munne S; Wells D
    Hum Reprod Update; 2019 Jan; 25(1):15-33. PubMed ID: 30395265
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
    Pirozzi F; Berkseth M; Shear R; Gonzalez L; Timms AE; Sulc J; Pao E; Oyama N; Forzano F; Conti V; Guerrini R; Doherty ES; Saitta SC; Lockwood CM; Pritchard CC; Dobyns WB; Novotny E; Wright JNN; Saneto RP; Friedman S; Hauptman J; Ojemann J; Kapur RP; Mirzaa GM
    Brain; 2022 Apr; 145(3):925-938. PubMed ID: 35355055
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome.
    Rodríguez-Santiago B; Malats N; Rothman N; Armengol L; Garcia-Closas M; Kogevinas M; Villa O; Hutchinson A; Earl J; Marenne G; Jacobs K; Rico D; Tardón A; Carrato A; Thomas G; Valencia A; Silverman D; Real FX; Chanock SJ; Pérez-Jurado LA
    Am J Hum Genet; 2010 Jul; 87(1):129-38. PubMed ID: 20598279
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Brain somatic mutations in MTOR reveal translational dysregulations underlying intractable focal epilepsy.
    Kim JK; Cho J; Kim SH; Kang HC; Kim DS; Kim VN; Lee JH
    J Clin Invest; 2019 Oct; 129(10):4207-4223. PubMed ID: 31483294
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Mosaic deletion of 20pter due to rescue by somatic recombination.
    Martin MM; Vanzo RJ; Sdano MR; Baxter AL; South ST
    Am J Med Genet A; 2016 Jan; 170A(1):243-8. PubMed ID: 26436922
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Buccal cell FISH and blood PCR-Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with Turner syndrome.
    Freriks K; Timmers HJ; Netea-Maier RT; Beerendonk CC; Otten BJ; van Alfen-van der Velden JA; Traas MA; Mieloo H; van de Zande GW; Hoefsloot LH; Hermus AR; Smeets DF
    Eur J Med Genet; 2013 Sep; 56(9):497-501. PubMed ID: 23933507
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Constitutional partial 1q trisomy mosaicism and Wilms tumor.
    Mark HF; Wyandt H; Pan A; Milunsky JM
    Cancer Genet Cytogenet; 2005 Oct; 162(2):166-71. PubMed ID: 16213366
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Single-nuclei transcriptomics enable detection of somatic variants in patient brain tissue.
    Townsend SE; Westfall JJ; Navarro JB; Koboldt DC; Mardis ER; Miller KE; Bedrosian TA
    Sci Rep; 2023 Jan; 13(1):527. PubMed ID: 36631516
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Birth of a child with trisomy 9 mosaicism syndrome associated with paternal isodisomy 9: case of a positive noninvasive prenatal test result unconfirmed by invasive prenatal diagnosis.
    Ma J; Cram DS; Zhang J; Shang L; Yang H; Pan H
    Mol Cytogenet; 2015; 8():44. PubMed ID: 26120364
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.
    Lai D; Gade M; Yang E; Koh HY; Lu J; Walley NM; Buckley AF; Sands TT; Akman CI; Mikati MA; McKhann GM; Goldman JE; Canoll P; Alexander AL; Park KL; Von Allmen GK; Rodziyevska O; Bhattacharjee MB; Lidov HGW; Vogel H; Grant GA; Porter BE; Poduri AH; Crino PB; Heinzen EL
    Brain; 2022 Aug; 145(8):2704-2720. PubMed ID: 35441233
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Sequential comprehensive chromosome analysis on polar bodies, blastomeres and trophoblast: insights into female meiotic errors and chromosomal segregation in the preimplantation window of embryo development.
    Capalbo A; Bono S; Spizzichino L; Biricik A; Baldi M; Colamaria S; Ubaldi FM; Rienzi L; Fiorentino F
    Hum Reprod; 2013 Feb; 28(2):509-18. PubMed ID: 23148203
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Mosaicism for GNAS methylation defects associated with pseudohypoparathyroidism type 1B arose in early post-zygotic phases.
    Elli FM; Bordogna P; Arosio M; Spada A; Mantovani G
    Clin Epigenetics; 2018; 10():16. PubMed ID: 29445425
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implications.
    Rydzanicz M; Olszewski P; Kedra D; Davies H; Filipowicz N; Bruhn-Olszewska B; Cavalli M; Szczałuba K; Młynek M; Machnicki MM; Stawiński P; Kostrzewa G; Krajewski P; Śladowski D; Chrzanowska K; Dumanski JP; Płoski R
    Mol Genet Genomic Med; 2021 Jan; 9(1):e1526. PubMed ID: 33319479
    [TBL] [Abstract][Full Text] [Related]  

  • 34. The Incidence of Mosaicism for Individual Chromosome in Human Blastocysts Is Correlated With Chromosome Length.
    Chuang TH; Chang YP; Lee MJ; Wang HL; Lai HH; Chen SU
    Front Genet; 2020; 11():565348. PubMed ID: 33488666
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Multicolor detection of every chromosome as a means of detecting mosaicism and nuclear organization in human embryonic nuclei.
    Turner K; Fowler K; Fonseka G; Griffin D; Ioannou D
    Panminerva Med; 2016 Jun; 58(2):175-90. PubMed ID: 26982524
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations.
    Baulac S; Ishida S; Marsan E; Miquel C; Biraben A; Nguyen DK; Nordli D; Cossette P; Nguyen S; Lambrecq V; Vlaicu M; Daniau M; Bielle F; Andermann E; Andermann F; Leguern E; Chassoux F; Picard F
    Ann Neurol; 2015 Apr; 77(4):675-83. PubMed ID: 25623524
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Clinical utility of chromosomal microarray analysis of DNA from buccal cells: detection of mosaicism in three patients.
    Sdano MR; Vanzo RJ; Martin MM; Baldwin EE; South ST; Rope AF; Allen WP; Kearney H
    J Genet Couns; 2014 Dec; 23(6):922-7. PubMed ID: 25120037
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Confined trisomy 8 mosaicism of meiotic origin: a rare cause of aneuploidy in childhood cancer.
    Valind A; Pal N; Asmundsson J; Gisselsson D; Holmquist Mengelbier L
    Genes Chromosomes Cancer; 2014 Jul; 53(7):634-8. PubMed ID: 24729308
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Post-zygotic breakage of a dicentric chromosome results in mosaicism for a telocentric 9p marker chromosome in a boy with developmental delay.
    Pedurupillay CR; Misceo D; Gamage TH; Dissanayake VH; Frengen E
    Gene; 2014 Jan; 533(1):403-10. PubMed ID: 24095780
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Independent post-zygotic breaks of a dicentric chromosome result in mosaicism for an inverted duplication deletion 9p and terminal deletion 9p.
    Schlade-Bartusiak K; Tucker T; Safavi H; Livingston J; van Allen MI; Eydoux P; Armstrong L
    Eur J Med Genet; 2013 May; 56(5):229-35. PubMed ID: 23416622
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.