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Journal Abstract Search

324 related items for PubMed ID: 27419809

  • 1. Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups.
    Maas SM, Vansenne F, Kadouch DJ, Ibrahim A, Bliek J, Hopman S, Mannens MM, Merks JH, Maher ER, Hennekam RC.
    Am J Med Genet A; 2016 Sep; 170(9):2248-60. PubMed ID: 27419809
    [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
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  • 3. Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome.
    Cooper WN, Luharia A, Evans GA, Raza H, Haire AC, Grundy R, Bowdin SC, Riccio A, Sebastio G, Bliek J, Schofield PN, Reik W, Macdonald F, Maher ER.
    Eur J Hum Genet; 2005 Sep; 13(9):1025-32. PubMed ID: 15999116
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  • 4. (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
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  • 5. 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
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  • 6. 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 26; 37(12):921-6. PubMed ID: 11106355
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  • 7. Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour.
    Cerrato F, Sparago A, Verde G, De Crescenzo A, Citro V, Cubellis MV, Rinaldi MM, Boccuto L, Neri G, Magnani C, D'Angelo P, Collini P, Perotti D, Sebastio G, Maher ER, Riccio A.
    Hum Mol Genet; 2008 May 15; 17(10):1427-35. PubMed ID: 18245780
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  • 8. Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting.
    Eggermann T, Kraft F, Lausberg E, Ergezinger K, Kunstmann E.
    J Med Genet; 2021 Mar 15; 58(3):173-176. PubMed ID: 32447323
    [Abstract] [Full Text] [Related]

  • 9. The utility of alpha-fetoprotein screening in Beckwith-Wiedemann syndrome.
    Duffy KA, Deardorff MA, Kalish JM.
    Am J Med Genet A; 2017 Mar 15; 173(3):581-584. PubMed ID: 28160403
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  • 10. 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 15; 173(1):72-78. PubMed ID: 27612309
    [Abstract] [Full Text] [Related]

  • 11. Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.
    Tenorio J, Romanelli V, Martin-Trujillo A, Fernández GM, Segovia M, Perandones C, Pérez Jurado LA, Esteller M, Fraga M, Arias P, Gordo G, Dapía I, Mena R, Palomares M, Pérez de Nanclares G, Nevado J, García-Miñaur S, Santos-Simarro F, Martinez-Glez V, Vallespín E, SOGRI Consortium, Monk D, Lapunzina P.
    Am J Med Genet A; 2016 Oct 15; 170(10):2740-9. PubMed ID: 27480579
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  • 15. Concurrent Hepatoblastoma and Wilms Tumor Leading to Diagnosis of Beckwith-Wiedemann Syndrome.
    Wolfe DM, Webster Carrion A, Masukhani MM, Oberg JA, Pavisic J, El-Ali A, Gupta M, Weng K, Glasser CL.
    J Pediatr Hematol Oncol; 2023 May 01; 45(4):e525-e529. PubMed ID: 36730589
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  • 18. 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 01; 36(7):518-23. PubMed ID: 10424811
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  • 19. Epigenotyping as a tool for the prediction of tumor risk and tumor type in patients with Beckwith-Wiedemann syndrome (BWS).
    Bliek J, Gicquel C, Maas S, Gaston V, Le Bouc Y, Mannens M.
    J Pediatr; 2004 Dec 01; 145(6):796-9. PubMed ID: 15580204
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  • 20. Expression of KCNQ1OT1, CDKN1C, H19, and PLAGL1 and the methylation patterns at the KvDMR1 and H19/IGF2 imprinting control regions is conserved between human and bovine.
    Robbins KM, Chen Z, Wells KD, Rivera RM.
    J Biomed Sci; 2012 Nov 15; 19(1):95. PubMed ID: 23153226
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