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Journal Abstract Search

132 related items for PubMed ID: 36598152

  • 1. 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; 191(4):1101-1106. PubMed ID: 36598152
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  • 6. Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour.
    Gogiel M, Begemann M, Spengler S, Soellner L, Göretzlehner U, Eggermann T, Strobl-Wildemann G.
    Eur J Hum Genet; 2013 Jul; 21(7):788-91. PubMed ID: 23188046
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  • 10. Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome.
    Ohtsuka Y, Higashimoto K, Sasaki K, Jozaki K, Yoshinaga H, Okamoto N, Takama Y, Kubota A, Nakayama M, Yatsuki H, Nishioka K, Joh K, Mukai T, Yoshiura KI, Soejima H.
    Clin Genet; 2015 Sep; 88(3):261-6. PubMed ID: 25171146
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  • 11. Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith-Wiedemann spectrum.
    Lee CT, Tung YC, Hwu WL, Shih JC, Lin WH, Wu MZ, Kuo KT, Yang YL, Chen HL, Chen M, Su YN, Jong YJ, Liu SY, Tsai WY, Lee NC.
    Am J Med Genet A; 2019 Sep; 179(9):1878-1883. PubMed ID: 31231953
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  • 12. Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype.
    Spier I, Engels H, Stutte S, Reutter H, Bartels E, Matos Meder S, Begemann M, Mangold E, Eggermann T.
    Am J Med Genet A; 2019 Nov; 179(11):2252-2256. PubMed ID: 31373173
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  • 13. Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic trisomy 18 at amniocentesis in a pregnancy with a favorable fetal outcome and maternal uniparental disomy 18.
    Chen CP, Su JW, Chern SR, Wu PS, Chen SW, Wu FT, Chen WL, Lee MS, Pan CW, Chen YY, Wang W.
    Taiwan J Obstet Gynecol; 2022 Jul; 61(4):684-689. PubMed ID: 35779922
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  • 14. Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype-genotype correlations in Beckwith-Wiedemann syndrome.
    Grati FR, Turolla L, D'Ajello P, Ruggeri A, Miozzo M, Bracalente G, Baldo D, Laurino L, Boldorini R, Frate E, Surico N, Larizza L, Maggi F, Simoni G.
    J Med Genet; 2007 Apr; 44(4):257-63. PubMed ID: 17259293
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  • 15. 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; 63(1):103632. PubMed ID: 30797057
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  • 20. Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome.
    Choufani S, Ko JM, Lou Y, Shuman C, Fishman L, Weksberg R.
    Genes (Basel); 2021 Jan 27; 12(2):. PubMed ID: 33513760
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