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Journal Abstract Search

233 related items for PubMed ID: 14692643

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  • 3. 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
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  • 4. Fibroadenoma in Beckwith-Wiedemann syndrome with paternal uniparental disomy of chromosome 11p15.5.
    Takama Y, Kubota A, Nakayama M, Higashimoto K, Jozaki K, Soejima H.
    Pediatr Int; 2014 Dec 15; 56(6):931-934. PubMed ID: 25521982
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  • 5. 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
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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 15; 89(5):613-7. PubMed ID: 17337339
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  • 8. Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.
    Catchpoole D, Lam WW, Valler D, Temple IK, Joyce JA, Reik W, Schofield PN, Maher ER.
    J Med Genet; 1997 May 15; 34(5):353-9. PubMed ID: 9152830
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  • 14. 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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  • 19. 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 May 01; 54(4):e451-4. PubMed ID: 21571108
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