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Journal Abstract Search

195 related items for PubMed ID: 23239666

  • 1. Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: diagnostic and management issues.
    Inbar-Feigenberg M, Choufani S, Cytrynbaum C, Chen YA, Steele L, Shuman C, Ray PN, Weksberg R.
    Am J Med Genet A; 2013 Jan; 161A(1):13-20. PubMed ID: 23239666
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  • 6. Rapid Diagnosis of Imprinting Disorders Involving Copy Number Variation and Uniparental Disomy Using Genome-Wide SNP Microarrays.
    Liu W, Zhang R, Wei J, Zhang H, Yu G, Li Z, Chen M, Sun X.
    Cytogenet Genome Res; 2015 Jan; 146(1):9-18. PubMed ID: 26184742
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  • 7. The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: two new reports.
    Wilson M, Peters G, Bennetts B, McGillivray G, Wu ZH, Poon C, Algar E.
    Am J Med Genet A; 2008 Jan 15; 146A(2):137-48. PubMed ID: 18033734
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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
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  • 10. Case Report of Infant With Features of Beckwith-Wiedemann Syndrome Diagnosed With Genome-wide Uniparental Disomy.
    Reed JA, Crotwell PL, Stein Q, Mroch A, Davis-Keppen L, Khan A.
    S D Med; 2017 Nov 15; 70(11):505-509. PubMed ID: 29088522
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  • 12. Mosaic genome-wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells.
    Mastromoro G, Guadagnolo D, Marchionni E, Torres B, Goldoni M, Onori A, Bernardini L, De Luca A, Torrente I, Pizzuti A.
    Am J Med Genet A; 2023 Apr 15; 191(4):1101-1106. PubMed ID: 36598152
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  • 13. Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy.
    Kalish JM, Conlin LK, Mostoufi-Moab S, Wilkens AB, Mulchandani S, Zelley K, Kowalski M, Bhatti TR, Russo P, Mattei P, Mackenzie WG, LiVolsi V, Nichols KE, Biegel JA, Spinner NB, Deardorff MA.
    Am J Med Genet A; 2013 May 15; 161A(5):993-1001. PubMed ID: 23532898
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  • 16. 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
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  • 19. 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 15; 19(4):416-21. PubMed ID: 21248736
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  • 20. 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 15; 31(10):749-53. PubMed ID: 7837249
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