145 related articles for article (PubMed ID: 22654821)
1. Paternal Uniparental Isodisomy of Chromosome 11p15.5 within the Pancreas Causes Isolated Hyperinsulinemic Hypoglycemia.
Flanagan SE; Kapoor RR; Smith VV; Hussain K; Ellard S
Front Endocrinol (Lausanne); 2011; 2():66. PubMed ID: 22654821
[TBL] [Abstract][Full Text] [Related]
2. 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]
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 uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy.
Shield JP; Flanagan SE; Mackay DJ; Harries LW; Proks P; Girard C; Ashcroft FM; Temple IK; Ellard S
Diabetes; 2008 Jan; 57(1):255-8. PubMed ID: 17942821
[TBL] [Abstract][Full Text] [Related]
5. 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]
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. 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]
8. 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]
9. Severe Hyperinsulinaemic Hypoglycaemia in Beckwith-Wiedemann Syndrome due to Paternal Uniparental Disomy of 11p15.5 Managed with Sirolimus Therapy.
Güemes M; Shah P; Roženková K; Gilbert C; Morgan K; Hussain K
Horm Res Paediatr; 2016; 85(5):353-7. PubMed ID: 26863215
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. Genomic profiles of a hepatoblastoma from a patient with Beckwith-Wiedemann syndrome with uniparental disomy on chromosome 11p15 and germline mutation of APC and PALB2.
Kim SY; Jung SH; Kim MS; Han MR; Park HC; Jung ES; Lee SH; Lee SH; Chung YJ
Oncotarget; 2017 Nov; 8(54):91950-91957. PubMed ID: 29190888
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. 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]
18. Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region.
Russo S; Finelli P; Recalcati MP; Ferraiuolo S; Cogliati F; Dalla Bernardina B; Tibiletti MG; Agosti M; Sala M; Bonati MT; Larizza L
J Med Genet; 2006 Aug; 43(8):e39. PubMed ID: 16882733
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome.
Pignata L; Sparago A; Palumbo O; Andreucci E; Lapi E; Tenconi R; Carella M; Riccio A; Cerrato F
Genes (Basel); 2021 Apr; 12(4):. PubMed ID: 33923683
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
