BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

251 related articles for article (PubMed ID: 32430359)

  • 1. Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome.
    Baker SW; Duffy KA; Richards-Yutz J; Deardorff MA; Kalish JM; Ganguly A
    J Med Genet; 2021 Mar; 58(3):178-184. PubMed ID: 32430359
    [TBL] [Abstract][Full Text] [Related]  

  • 2. High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.
    Baskin B; Choufani S; Chen YA; Shuman C; Parkinson N; Lemyre E; Micheil Innes A; Stavropoulos DJ; Ray PN; Weksberg R
    Hum Genet; 2014 Mar; 133(3):321-30. PubMed ID: 24154661
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith-Wiedemann syndrome.
    Lin HY; Chuang CK; Tu RY; Fang YY; Su YN; Chen CP; Chang CY; Liu HC; Chu TH; Niu DM; Lin SP
    Mol Genet Metab; 2016 Sep; 119(1-2):8-13. PubMed ID: 27436784
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.
    Russo S; Calzari L; Mussa A; Mainini E; Cassina M; Di Candia S; Clementi M; Guzzetti S; Tabano S; Miozzo M; Sirchia S; Finelli P; Prontera P; Maitz S; Sorge G; Calcagno A; Maghnie M; Divizia MT; Melis D; Manfredini E; Ferrero GB; Pecile V; Larizza L
    Clin Epigenetics; 2016; 8():23. PubMed ID: 26933465
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome.
    Bilgin B; Kabaçam S; Taşkıran E; Şimşek-Kiper PÖ; Alanay Y; Boduroğlu K; Utine GE
    Turk J Pediatr; 2018; 60(5):506-513. PubMed ID: 30968633
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.
    Brioude F; Netchine I; Praz F; Le Jule M; Calmel C; Lacombe D; Edery P; Catala M; Odent S; Isidor B; Lyonnet S; Sigaudy S; Leheup B; Audebert-Bellanger S; Burglen L; Giuliano F; Alessandri JL; Cormier-Daire V; Laffargue F; Blesson S; Coupier I; Lespinasse J; Blanchet P; Boute O; Baumann C; Polak M; Doray B; Verloes A; Viot G; Le Bouc Y; Rossignol S
    Hum Mutat; 2015 Sep; 36(9):894-902. PubMed ID: 26077438
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance.
    Fontana L; Tabano S; Maitz S; Colapietro P; Garzia E; Gerli AG; Sirchia SM; Miozzo M
    Int J Mol Sci; 2021 Mar; 22(7):. PubMed ID: 33810554
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and management.
    Duffy KA; Cielo CM; Cohen JL; Gonzalez-Gandolfi CX; Griff JR; Hathaway ER; Kupa J; Taylor JA; Wang KH; Ganguly A; Deardorff MA; Kalish JM
    Am J Med Genet C Semin Med Genet; 2019 Dec; 181(4):693-708. PubMed ID: 31469230
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Investigation of (epi)genotype causes and follow-up manifestations in the patients with classical and atypical phenotype of Beckwith-Wiedemann spectrum.
    Tüysüz B; Güneş N; Geyik F; Yeşil G; Celkan T; Vural M
    Am J Med Genet A; 2021 Jun; 185(6):1721-1731. PubMed ID: 33704912
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important.
    Eggermann T; Brück J; Knopp C; Fekete G; Kratz C; Tasic V; Kurth I; Elbracht M; Eggermann K; Begemann M
    J Mol Med (Berl); 2020 Oct; 98(10):1447-1455. PubMed ID: 32839827
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Familial Beckwith-Wiedemann syndrome in a multigenerational family: Forty years of careful phenotyping.
    Best LG; Duffy KA; George AM; Ganguly A; Kalish JM
    Am J Med Genet A; 2023 Feb; 191(2):348-356. PubMed ID: 36322462
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Characteristics Associated with Tumor Development in Individuals Diagnosed with Beckwith-Wiedemann Spectrum: Novel Tumor-(epi)Genotype-Phenotype Associations in the BWSp Population.
    Duffy KA; Getz KD; Hathaway ER; Byrne ME; MacFarland SP; Kalish JM
    Genes (Basel); 2021 Nov; 12(11):. PubMed ID: 34828445
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Beckwith-Wiedemann syndrome: multiple molecular mechanisms.
    Enklaar T; Zabel BU; Prawitt D
    Expert Rev Mol Med; 2006 Jul; 8(17):1-19. PubMed ID: 16842655
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.
    Engel JR; Smallwood A; Harper A; Higgins MJ; Oshimura M; Reik W; Schofield PN; Maher ER
    J Med Genet; 2000 Dec; 37(12):921-6. PubMed ID: 11106355
    [TBL] [Abstract][Full Text] [Related]  

  • 15. (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome.
    Mussa A; Russo S; De Crescenzo A; Freschi A; Calzari L; Maitz S; Macchiaiolo M; Molinatto C; Baldassarre G; Mariani M; Tarani L; Bedeschi MF; Milani D; Melis D; Bartuli A; Cubellis MV; Selicorni A; Cirillo Silengo M; Larizza L; Riccio A; Ferrero GB
    Eur J Hum Genet; 2016 Feb; 24(2):183-90. PubMed ID: 25898929
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Brain abnormalities in patients with Beckwith-Wiedemann syndrome.
    Gardiner K; Chitayat D; Choufani S; Shuman C; Blaser S; Terespolsky D; Farrell S; Reiss R; Wodak S; Pu S; Ray PN; Baskin B; Weksberg R
    Am J Med Genet A; 2012 Jun; 158A(6):1388-94. PubMed ID: 22585446
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome.
    Gaston V; Le Bouc Y; Soupre V; Burglen L; Donadieu J; Oro H; Audry G; Vazquez MP; Gicquel C
    Eur J Hum Genet; 2001 Jun; 9(6):409-18. PubMed ID: 11436121
    [TBL] [Abstract][Full Text] [Related]  

  • 18. SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy.
    Keren B; Chantot-Bastaraud S; Brioude F; Mach C; Fonteneau E; Azzi S; Depienne C; Brice A; Netchine I; Le Bouc Y; Siffroi JP; Rossignol S
    Eur J Med Genet; 2013 Oct; 56(10):546-50. PubMed ID: 23892181
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family.
    Jurkiewicz D; Kugaudo M; Skórka A; Śmigiel R; Smyk M; Ciara E; Chrzanowska K; Krajewska-Walasek M
    Am J Med Genet A; 2017 Jan; 173(1):72-78. PubMed ID: 27612309
    [TBL] [Abstract][Full Text] [Related]  

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

    [Next]    [New Search]
    of 13.