Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 138

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. doi: 10.1515/jpem-2013-0484.

PMID:
24756053
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. Epub 2012 Nov 30.

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. doi: 10.1136/jmedgenet-2015-103394. Epub 2015 Nov 6.

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. doi: 10.1002/ajmg.a.37187. Epub 2015 Jul 29.

PMID:
26219535
5.

Genome-wide androgenetic mosaicism.

Johnson JP, Waterson J, Schwanke C, Schoof J.

Clin Genet. 2014 Mar;85(3):282-5. doi: 10.1111/cge.12146. Epub 2013 Apr 23.

PMID:
23509941
6.

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. doi: 10.1002/ajmg.a.35651. Epub 2012 Dec 13.

PMID:
23239666
7.

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. doi: 10.1016/j.jpedsurg.2013.05.016.

8.

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. doi: 10.1038/ejhg.2010.236. Epub 2011 Jan 19.

9.

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 15;146A(2):137-48.

PMID:
18033734
10.

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. doi: 10.1038/ejhg.2012.259. Epub 2012 Nov 28.

11.

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. doi: 10.1016/j.ejmg.2013.06.005. Epub 2013 Jul 24.

PMID:
23892181
12.
13.

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. doi: 10.1016/j.ejmg.2012.12.001. Epub 2012 Dec 20.

PMID:
23261959
14.

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. doi: 10.1159/000446153. Epub 2016 May 14.

15.

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. Epub 2002 Jan 28.

16.

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. Epub 2005 Apr 5.

PMID:
15811927
17.

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.

18.

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 May-Jun;57(6):293-7. doi: 10.1016/j.ejmg.2014.03.011. Epub 2014 Apr 2.

PMID:
24704790
19.

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. doi: 10.1055/s-0034-1394371. Epub 2014 Nov 3.

PMID:
25365508
20.

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 15;143A(24):3010-5.

PMID:
18000906

Supplemental Content

Support Center