These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
6. Congenital hyperinsulinism in an infant with paternal uniparental disomy on chromosome 11p15: few clinical features suggestive of Beckwith-Wiedemann syndrome. Adachi H; Takahashi I; Higashimoto K; Tsuchida S; Noguchi A; Tamura H; Arai H; Ito T; Masue M; Nishibori H; Takahashi T; Soejima H Endocr J; 2013; 60(4):403-8. PubMed ID: 23197114 [TBL] [Abstract][Full Text] [Related]
7. 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 [TBL] [Abstract][Full Text] [Related]
8. 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; 146A(2):137-48. PubMed ID: 18033734 [TBL] [Abstract][Full Text] [Related]
9. Detection of altered methylation status at 11p15.5 and 7q32 in placental mesenchymal dysplasia. Chen CP; Su YN; Lin MH; Wang TY; Chern SR; Kuo YL; Chen YT; Wang W Taiwan J Obstet Gynecol; 2014 Mar; 53(1):68-73. PubMed ID: 24767650 [TBL] [Abstract][Full Text] [Related]
10. Proportion of cells with paternal 11p15 uniparental disomy correlates with organ enlargement in Wiedemann-beckwith syndrome. Itoh N; Becroft DM; Reeve AE; Morison IM Am J Med Genet; 2000 May; 92(2):111-6. PubMed ID: 10797434 [TBL] [Abstract][Full Text] [Related]
11. Androgenetic/biparental mosaicism in an infant with hepatic mesenchymal hamartoma and placental mesenchymal dysplasia. Reed RC; Beischel L; Schoof J; Johnson J; Raff ML; Kapur RP Pediatr Dev Pathol; 2008; 11(5):377-83. PubMed ID: 18260692 [TBL] [Abstract][Full Text] [Related]
12. 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 [TBL] [Abstract][Full Text] [Related]
13. Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype. South ST; Whitby H; Maxwell T; Aston E; Brothman AR; Carey JC Am J Med Genet A; 2008 Oct; 146A(20):2691-7. PubMed ID: 18798325 [TBL] [Abstract][Full Text] [Related]
14. Maternal GRB10 microdeletion is a novel cause of cystic placenta: Spectrum of genomic changes in the etiology of enlarged cystic placenta. Surti U; Yatsenko S; Hu J; Bellissimo D; Parks WT; Hoffner L Placenta; 2017 Sep; 57():33-41. PubMed ID: 28864017 [TBL] [Abstract][Full Text] [Related]
15. Systematic review of sonographic findings of placental mesenchymal dysplasia and subsequent pregnancy outcome. Nayeri UA; West AB; Grossetta Nardini HK; Copel JA; Sfakianaki AK Ultrasound Obstet Gynecol; 2013 Apr; 41(4):366-74. PubMed ID: 23239538 [TBL] [Abstract][Full Text] [Related]
16. 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; 9(6):409-18. PubMed ID: 11436121 [TBL] [Abstract][Full Text] [Related]
17. Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report. Lekszas C; Nanda I; Vona B; Böck J; Ashrafzadeh F; Donyadideh N; Ebrahimzadeh F; Ahangari N; Maroofian R; Karimiani EG; Haaf T BMC Med Genomics; 2019 Jun; 12(1):83. PubMed ID: 31174542 [TBL] [Abstract][Full Text] [Related]
18. Localized Placental Mesenchymal Dysplasia in Monochorionic Diamniotic Twin Placenta with Beckwith-Wiedemann Syndrome. Eren Karanis MI; Zamani AG Fetal Pediatr Pathol; 2022 Aug; 41(4):657-664. PubMed ID: 33356737 [No Abstract] [Full Text] [Related]
19. Placental mesenchymal dysplasia and fetal renal-hepatic-pancreatic dysplasia: androgenetic-biparental mosaicism and pathogenesis of an autosomal recessive disorder. Kapur RP; Cole B; Zhang M; Lin J; Fligner CL Pediatr Dev Pathol; 2013; 16(3):191-200. PubMed ID: 23438674 [TBL] [Abstract][Full Text] [Related]
20. Uniparental disomy for chromosome 16 in humans. Kalousek DK; Langlois S; Barrett I; Yam I; Wilson DR; Howard-Peebles PN; Johnson MP; Giorgiutti E Am J Hum Genet; 1993 Jan; 52(1):8-16. PubMed ID: 8434609 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]