BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

367 related articles for article (PubMed ID: 26572961)

  • 1. Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion.
    Gripp KW; Robbins KM; Sheffield BS; Lee AF; Patel MS; Yip S; Doyle D; Stabley D; Sol-Church K
    Am J Med Genet A; 2016 Mar; 170(3):559-64. PubMed ID: 26572961
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma.
    Robbins KM; Stabley DL; Holbrook J; Sahraoui R; Sadreameli A; Conard K; Baker L; Gripp KW; Sol-Church K
    Am J Med Genet A; 2016 Dec; 170(12):3197-3206. PubMed ID: 27589201
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Fatal congenital hypertrophic cardiomyopathy and a pancreatic nodule morphologically identical to focal lesion of congenital hyperinsulinism in an infant with costello syndrome: case report and review of the literature.
    Sheffield BS; Yip S; Ruchelli ED; Dunham CP; Sherwin E; Brooks PA; Sur A; Singh A; Human DG; Patel MS; Lee AF
    Pediatr Dev Pathol; 2015; 18(3):237-44. PubMed ID: 25668678
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann syndrome due to defects in the function of pancreatic beta-cell adenosine triphosphate-sensitive potassium channels.
    Hussain K; Cosgrove KE; Shepherd RM; Luharia A; Smith VV; Kassem S; Gregory JW; Sivaprasadarao A; Christesen HT; Jacobsen BB; Brusgaard K; Glaser B; Maher EA; Lindley KJ; Hindmarsh P; Dattani M; Dunne MJ
    J Clin Endocrinol Metab; 2005 Jul; 90(7):4376-82. PubMed ID: 15811927
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Uniparental disomy at chromosome 11p15.5 followed by HRAS mutations in embryonal rhabdomyosarcoma: lessons from Costello syndrome.
    Kratz CP; Steinemann D; Niemeyer CM; Schlegelberger B; Koscielniak E; Kontny U; Zenker M
    Hum Mol Genet; 2007 Feb; 16(4):374-9. PubMed ID: 17164262
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. Beckwith-Wiedemann syndrome-associated hepatoblastoma: wnt signal activation occurs later in tumorigenesis in patients with 11p15.5 uniparental disomy.
    Fukuzawa R; Hata J; Hayashi Y; Ikeda H; Reeve AE
    Pediatr Dev Pathol; 2003; 6(4):299-306. PubMed ID: 14692643
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.
    Verkarre V; Fournet JC; de Lonlay P; Gross-Morand MS; Devillers M; Rahier J; Brunelle F; Robert JJ; Nihoul-Fékété C; Saudubray JM; Junien C
    J Clin Invest; 1998 Oct; 102(7):1286-91. PubMed ID: 9769320
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Diffuse infantile hepatic hemangiomas in a patient with Beckwith-Wiedemann syndrome: A new association?
    Macchiaiolo M; Markowich AH; Diociaiuti A; Gonfiantini MV; Buonuomo PS; Rana I; Monti L; El Hachem M; Bartuli A
    Am J Med Genet A; 2020 Aug; 182(8):1972-1976. PubMed ID: 32573107
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations.
    Li M; Squire J; Shuman C; Fei YL; Atkin J; Pauli R; Smith A; Nishikawa J; Chitayat D; Weksberg R
    Genomics; 2001 Jun; 74(3):370-6. PubMed ID: 11414765
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism.
    Wieland I; Schanze I; Felgendreher IM; Barthlen W; Vogelgesang S; Mohnike K; Zenker M
    Front Endocrinol (Lausanne); 2022; 13():1015244. PubMed ID: 36339418
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome.
    Kalish JM; Boodhansingh KE; Bhatti TR; Ganguly A; Conlin LK; Becker SA; Givler S; Mighion L; Palladino AA; Adzick NS; De León DD; Stanley CA; Deardorff MA
    J Med Genet; 2016 Jan; 53(1):53-61. PubMed ID: 26545876
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.