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Journal Abstract Search

303 related items for PubMed ID: 21248736

  • 1. Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.
    Romanelli V, Meneses HN, Fernández L, Martínez-Glez V, Gracia-Bouthelier R, F Fraga M, Guillén E, Nevado J, Gean E, Martorell L, Marfil VE, García-Miñaur S, Lapunzina P.
    Eur J Hum Genet; 2011 Apr; 19(4):416-21. PubMed ID: 21248736
    [Abstract] [Full Text] [Related]

  • 2. Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.
    Slatter RE, Elliott M, Welham K, Carrera M, Schofield PN, Barton DE, Maher ER.
    J Med Genet; 1994 Oct; 31(10):749-53. PubMed ID: 7837249
    [Abstract] [Full Text] [Related]

  • 3.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Shuman C, Kalish JM, Weksberg R.
    ; 1993 Oct. PubMed ID: 20301568
    [Abstract] [Full Text] [Related]

  • 4. 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; 13(8):2077-84. PubMed ID: 12138139
    [Abstract] [Full Text] [Related]

  • 5. 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]

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  • 7. Mitotic recombination and uniparental disomy in Beckwith-Wiedemann syndrome.
    Cooper WN, Curley R, Macdonald F, Maher ER.
    Genomics; 2007 May; 89(5):613-7. PubMed ID: 17337339
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  • 9. Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15.
    Smith AC, Shuman C, Chitayat D, Steele L, Ray PN, Bourgeois J, Weksberg R.
    Am J Med Genet A; 2007 Dec 15; 143A(24):3010-5. PubMed ID: 18000906
    [Abstract] [Full Text] [Related]

  • 10. Molecular biology of Beckwith-Wiedemann syndrome.
    Weksberg R, Squire JA.
    Med Pediatr Oncol; 1996 Nov 15; 27(5):462-9. PubMed ID: 8827075
    [Abstract] [Full Text] [Related]

  • 11. (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 15; 24(2):183-90. PubMed ID: 25898929
    [Abstract] [Full Text] [Related]

  • 12. Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management.
    Sheppard SE, Lalonde E, Adzick NS, Beck AE, Bhatti T, De Leon DD, Duffy KA, Ganguly A, Hathaway E, Ji J, Linn R, Lord K, Randolph LM, Sajorda B, States L, Conlin LK, Kalish JM.
    Genet Med; 2019 Nov 15; 21(11):2644-2649. PubMed ID: 31147633
    [Abstract] [Full Text] [Related]

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  • 14. Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism.
    Christesen HT, Christensen LG, Löfgren ÅM, Brøndum-Nielsen K, Svensson J, Brusgaard K, Samuelsson S, Elfving M, Jonson T, Grønskov K, Rasmussen L, Backman T, Hansen LK, Larsen AR, Petersen H, Detlefsen S.
    Eur J Med Genet; 2020 Jan 15; 63(1):103632. PubMed ID: 30797057
    [Abstract] [Full Text] [Related]

  • 15. Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion.
    Gripp KW, Robbins KM, Sheffield BS, Lee AF, Patel MS, Yip S, Doyle D, Stabley D, Sol-Church K.
    Am J Med Genet A; 2016 Mar 15; 170(3):559-64. PubMed ID: 26572961
    [Abstract] [Full Text] [Related]

  • 16. A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith-Wiedemann syndrome.
    De Crescenzo A, Coppola F, Falco P, Bernardo I, Ausanio G, Cerrato F, Falco L, Riccio A.
    Eur J Med Genet; 2011 Mar 15; 54(4):e451-4. PubMed ID: 21571108
    [Abstract] [Full Text] [Related]

  • 17. Allelic methylation of H19 and IGF2 in the Beckwith-Wiedemann syndrome.
    Reik W, Brown KW, Slatter RE, Sartori P, Elliott M, Maher ER.
    Hum Mol Genet; 1994 Aug 15; 3(8):1297-301. PubMed ID: 7987305
    [Abstract] [Full Text] [Related]

  • 18. 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 15; 9(6):409-18. PubMed ID: 11436121
    [Abstract] [Full Text] [Related]

  • 19. 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 Jun 15; 8():23. PubMed ID: 26933465
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