200 related articles for article (PubMed ID: 24756053)
1. Persistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11p.
Zarate YA; Shur N; Robin A; Garnica AD; Quintos JB; Schaefer GB
J Pediatr Endocrinol Metab; 2014 Sep; 27(9-10):951-5. PubMed ID: 24756053
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. Genome-wide androgenetic mosaicism.
Johnson JP; Waterson J; Schwanke C; Schoof J
Clin Genet; 2014 Mar; 85(3):282-5. PubMed ID: 23509941
[TBL] [Abstract][Full Text] [Related]
7. SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy.
Keren B; Chantot-Bastaraud S; Brioude F; Mach C; Fonteneau E; Azzi S; Depienne C; Brice A; Netchine I; Le Bouc Y; Siffroi JP; Rossignol S
Eur J Med Genet; 2013 Oct; 56(10):546-50. PubMed ID: 23892181
[TBL] [Abstract][Full Text] [Related]
8. Pancreatic surgery in infants with Beckwith-Wiedemann syndrome and hyperinsulinism.
Laje P; Palladino AA; Bhatti TR; States LJ; Stanley CA; Adzick NS
J Pediatr Surg; 2013 Dec; 48(12):2511-6. PubMed ID: 24314195
[TBL] [Abstract][Full Text] [Related]
9. Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism.
Calton EA; Temple IK; Mackay DJ; Lever M; Ellard S; Flanagan SE; Davies JH; Hussain K; Gray JC
Eur J Med Genet; 2013 Feb; 56(2):114-7. PubMed ID: 23261959
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. 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]
14. Methylation analysis in tongue tissue of BWS patients identifies the (EPI)genetic cause in 3 patients with normal methylation levels in blood.
Alders M; Maas SM; Kadouch DJ; van der Lip K; Bliek J; van der Horst CM; Mannens MM
Eur J Med Genet; 2014; 57(6):293-7. PubMed ID: 24704790
[TBL] [Abstract][Full Text] [Related]
15. Genome-wide paternal uniparental disomy as a cause of Beckwith-Wiedemann syndrome associated with recurrent virilizing adrenocortical tumors.
Bertoin F; Letouzé E; Grignani P; Patey M; Rossignol S; Libé R; Pasqual C; Lardière-Deguelte S; Hoeffel-Fornes C; Gaillard D; Previderè C; Delemer B; Lalli E
Horm Metab Res; 2015 Jun; 47(7):497-503. PubMed ID: 25365508
[TBL] [Abstract][Full Text] [Related]
16. Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management.
Sheppard SE; Lalonde E; Adzick NS; Beck AE; Bhatti T; De Leon DD; Duffy KA; Ganguly A; Hathaway E; Ji J; Linn R; Lord K; Randolph LM; Sajorda B; States L; Conlin LK; Kalish JM
Genet Med; 2019 Nov; 21(11):2644-2649. PubMed ID: 31147633
[TBL] [Abstract][Full Text] [Related]
17. Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects.
DeBaun MR; Niemitz EL; McNeil DE; Brandenburg SA; Lee MP; Feinberg AP
Am J Hum Genet; 2002 Mar; 70(3):604-11. PubMed ID: 11813134
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
