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389 related items for PubMed ID: 30968633

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. (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
    [Abstract] [Full Text] [Related]

  • 7.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Shuman C, Kalish JM, Weksberg R.
    ; 1993 Feb. PubMed ID: 20301568
    [Abstract] [Full Text] [Related]

  • 8. Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.
    Calvello M, Tabano S, Colapietro P, Maitz S, Pansa A, Augello C, Lalatta F, Gentilin B, Spreafico F, Calzari L, Perotti D, Larizza L, Russo S, Selicorni A, Sirchia SM, Miozzo M.
    Epigenetics; 2013 Oct; 8(10):1053-60. PubMed ID: 23917791
    [Abstract] [Full Text] [Related]

  • 9. 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
    [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
    [Abstract] [Full Text] [Related]

  • 11. CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.
    Romanelli V, Belinchón A, Benito-Sanz S, Martínez-Glez V, Gracia-Bouthelier R, Heath KE, Campos-Barros A, García-Miñaur S, Fernandez L, Meneses H, López-Siguero JP, Guillén-Navarro E, Gómez-Puertas P, Wesselink JJ, Mercado G, Esteban-Marfil V, Palomo R, Mena R, Sánchez A, Del Campo M, Lapunzina P.
    Am J Med Genet A; 2010 Jun; 152A(6):1390-7. PubMed ID: 20503313
    [Abstract] [Full Text] [Related]

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

  • 13. Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith-Wiedemann Syndrome.
    Kim HY, Shin CH, Lee YA, Shin CH, Kim GH, Ko JM.
    Ann Lab Med; 2022 Nov 01; 42(6):668-677. PubMed ID: 35765875
    [Abstract] [Full Text] [Related]

  • 14. Fetal growth patterns 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, Silengo MC, Larizza L, Riccio A, Ferrero GB.
    Clin Genet; 2016 Jul 01; 90(1):21-7. PubMed ID: 26857110
    [Abstract] [Full Text] [Related]

  • 15. 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 01; 58(3):178-184. PubMed ID: 32430359
    [Abstract] [Full Text] [Related]

  • 16. 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 26; 22(7):. PubMed ID: 33810554
    [Abstract] [Full Text] [Related]

  • 17. Renal abnormalities in beckwith-wiedemann syndrome are associated with 11p15.5 uniparental disomy.
    Goldman M, Smith A, Shuman C, Caluseriu O, Wei C, Steele L, Ray P, Sadowski P, Squire J, Weksberg R, Rosenblum ND.
    J Am Soc Nephrol; 2002 Aug 26; 13(8):2077-84. PubMed ID: 12138139
    [Abstract] [Full Text] [Related]

  • 18. Syndromes and disorders associated with omphalocele (I): Beckwith-Wiedemann syndrome.
    Chen CP.
    Taiwan J Obstet Gynecol; 2007 Jun 26; 46(2):96-102. PubMed ID: 17638616
    [Abstract] [Full Text] [Related]

  • 19. Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.
    Soejima H, Higashimoto K.
    J Hum Genet; 2013 Jul 26; 58(7):402-9. PubMed ID: 23719190
    [Abstract] [Full Text] [Related]

  • 20. 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 Jul 26; 8():23. PubMed ID: 26933465
    [Abstract] [Full Text] [Related]

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