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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

461 related articles for article (PubMed ID: 7837249)

  • 1. 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]  

  • 2. 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; 34(5):353-9. PubMed ID: 9152830
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 19(4):416-21. PubMed ID: 21248736
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Allelic methylation of H19 and IGF2 in the Beckwith-Wiedemann syndrome.
    Reik W; Brown KW; Slatter RE; Sartori P; Elliott M; Maher ER
    Hum Mol Genet; 1994 Aug; 3(8):1297-301. PubMed ID: 7987305
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 143A(24):3010-5. PubMed ID: 18000906
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mosaic paternal genome-wide uniparental isodisomy with down syndrome.
    Darcy D; Atwal PS; Angell C; Gadi I; Wallerstein R
    Am J Med Genet A; 2015 Oct; 167A(10):2463-9. PubMed ID: 26219535
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.
    Engel JR; Smallwood A; Harper A; Higgins MJ; Oshimura M; Reik W; Schofield PN; Maher ER
    J Med Genet; 2000 Dec; 37(12):921-6. PubMed ID: 11106355
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Renal abnormalities in beckwith-wiedemann syndrome are associated with 11p15.5 uniparental disomy.
    Goldman M; Smith A; Shuman C; Caluseriu O; Wei C; Steele L; Ray P; Sadowski P; Squire J; Weksberg R; Rosenblum ND
    J Am Soc Nephrol; 2002 Aug; 13(8):2077-84. PubMed ID: 12138139
    [TBL] [Abstract][Full Text] [Related]  

  • 10. High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.
    Baskin B; Choufani S; Chen YA; Shuman C; Parkinson N; Lemyre E; Micheil Innes A; Stavropoulos DJ; Ray PN; Weksberg R
    Hum Genet; 2014 Mar; 133(3):321-30. PubMed ID: 24154661
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mitotic recombination and uniparental disomy in Beckwith-Wiedemann syndrome.
    Cooper WN; Curley R; Macdonald F; Maher ER
    Genomics; 2007 May; 89(5):613-7. PubMed ID: 17337339
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: a post-fertilization event.
    Henry I; Puech A; Riesewijk A; Ahnine L; Mannens M; Beldjord C; Bitoun P; Tournade MF; Landrieu P; Junien C
    Eur J Hum Genet; 1993; 1(1):19-29. PubMed ID: 8069648
    [TBL] [Abstract][Full Text] [Related]  

  • 13. (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome.
    Mussa A; Russo S; De Crescenzo A; Freschi A; Calzari L; Maitz S; Macchiaiolo M; Molinatto C; Baldassarre G; Mariani M; Tarani L; Bedeschi MF; Milani D; Melis D; Bartuli A; Cubellis MV; Selicorni A; Cirillo Silengo M; Larizza L; Riccio A; Ferrero GB
    Eur J Hum Genet; 2016 Feb; 24(2):183-90. PubMed ID: 25898929
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 56(6):931-934. PubMed ID: 25521982
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome.
    Cooper WN; Luharia A; Evans GA; Raza H; Haire AC; Grundy R; Bowdin SC; Riccio A; Sebastio G; Bliek J; Schofield PN; Reik W; Macdonald F; Maher ER
    Eur J Hum Genet; 2005 Sep; 13(9):1025-32. PubMed ID: 15999116
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation.
    Lam WW; Hatada I; Ohishi S; Mukai T; Joyce JA; Cole TR; Donnai D; Reik W; Schofield PN; Maher ER
    J Med Genet; 1999 Jul; 36(7):518-23. PubMed ID: 10424811
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular biology of Beckwith-Wiedemann syndrome.
    Weksberg R; Squire JA
    Med Pediatr Oncol; 1996 Nov; 27(5):462-9. PubMed ID: 8827075
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 24.