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12. 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 [TBL] [Abstract][Full Text] [Related]
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17. Coexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy. Kocaay P; Şiklar Z; Ellard S; Yagmurlu A; Çamtosun E; Erden E; Berberoglu M; Flanagan SE Horm Res Paediatr; 2016; 85(6):421-5. PubMed ID: 27173951 [TBL] [Abstract][Full Text] [Related]
18. 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 [TBL] [Abstract][Full Text] [Related]
19. 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 [TBL] [Abstract][Full Text] [Related]
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