BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

141 related articles for article (PubMed ID: 36322462)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to
    Cardoso LCA; Parra A; Gil CR; Arias P; Gallego N; Romanelli V; Kantaputra PN; Lima L; Llerena Júnior JC; Arberas C; Guillén-Navarro E; Nevado J; Spanish OverGrowth Registry Initiative ; Tenorio-Castano J; Lapunzina P
    Cancers (Basel); 2022 Aug; 14(15):. PubMed ID: 35954470
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 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. Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation.
    Lam WW; Hatada I; Ohishi S; Mukai T; Joyce JA; Cole TR; Donnai D; Reik W; Schofield PN; Maher ER
    J Med Genet; 1999 Jul; 36(7):518-23. PubMed ID: 10424811
    [TBL] [Abstract][Full Text] [Related]  

  • 8. (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]  

  • 9. Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of
    Sparago A; Cerrato F; Pignata L; Cammarata-Scalisi F; Garavelli L; Piscopo C; Vancini A; Riccio A
    Genes (Basel); 2021 May; 12(5):. PubMed ID: 34065128
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Isolated- and Beckwith-Wiedemann syndrome related- lateralised overgrowth (hemihypertrophy): Clinical and molecular correlations in 94 individuals.
    Radley JA; Connolly M; Sabir A; Kanani F; Carley H; Jones RL; Hyder Z; Gompertz L; Reardon W; Richardson R; McClelland L; Maher ER
    Clin Genet; 2021 Sep; 100(3):292-297. PubMed ID: 33993487
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization.
    Hol JA; Kuiper RP; van Dijk F; Waanders E; van Peer SE; Koudijs MJ; Bladergroen R; van Reijmersdal SV; Morgado LM; Bliek J; Lombardi MP; Hopman S; Drost J; de Krijger RR; van den Heuvel-Eibrink MM; Jongmans MCJ
    J Clin Oncol; 2022 Jun; 40(17):1892-1902. PubMed ID: 35230882
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques.
    Carli D; Operti M; Russo S; Cocchi G; Milani D; Leoni C; Prada E; Melis D; Falco M; Spina J; Uliana V; Sara O; Sirchia F; Tarani L; Macchiaiolo M; Cerrato F; Sparago A; Pignata L; Tannorella P; Cardaropoli S; Bartuli A; Riccio A; Ferrero GB; Mussa A
    Clin Genet; 2022 Oct; 102(4):314-323. PubMed ID: 35842840
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. [Beckwith-Wiedemann Syndrome (BWS) Current Status of Diagnosis and Clinical Management: Summary of the First International Consensus Statement].
    Elbracht M; Prawitt D; Nemetschek R; Kratz C; Eggermann T
    Klin Padiatr; 2018 Apr; 230(3):151-159. PubMed ID: 29660755
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?
    Maas SM; Krzyzewska IM; Lombardi MPR; Mannens MMA; Vos N; Bliek J
    Eur J Hum Genet; 2023 Jun; 31(6):615-616. PubMed ID: 37012326
    [No Abstract]   [Full Text] [Related]  

  • 18. Beckwith-Wiedemann syndrome: clinical and etiopathogenic aspects of a model genomic imprinting entity.
    Cammarata-Scalisi F; Avendaño A; Stock F; Callea M; Sparago A; Riccio A
    Arch Argent Pediatr; 2018 Oct; 116(5):368-373. PubMed ID: 30204990
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene.
    Jurkiewicz D; Skórka A; Ciara E; Kugaudo M; Pelc M; Chrzanowska K; Krajewska-Walasek M
    Clin Dysmorphol; 2020 Jan; 29(1):28-34. PubMed ID: 31804259
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.