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Items: 1 to 20 of 131

1.

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
2.

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. Epub 2007 Oct 17.

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. Epub 2012 Nov 30.

4.

An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism.

Hussain K, Flanagan SE, Smith VV, Ashworth M, Day M, Pierro A, Ellard S.

Diabetes. 2008 Jan;57(1):259-63. Epub 2007 Oct 17.

5.

Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism.

Damaj L, le Lorch M, Verkarre V, Werl C, Hubert L, Nihoul-Fékété C, Aigrain Y, de Keyzer Y, Romana SP, Bellanne-Chantelot C, de Lonlay P, Jaubert F.

J Clin Endocrinol Metab. 2008 Dec;93(12):4941-7. doi: 10.1210/jc.2008-0673. Epub 2008 Sep 16.

PMID:
18796520
6.

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.

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. Epub 2005 Apr 5.

PMID:
15811927
8.

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
9.

Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11.

Fournet JC, Mayaud C, de Lonlay P, Gross-Morand MS, Verkarre V, Castanet M, Devillers M, Rahier J, Brunelle F, Robert JJ, Nihoul-Fékété C, Saudubray JM, Junien C.

Am J Pathol. 2001 Jun;158(6):2177-84.

10.

Congenital hyperinsulinism caused by mutations in ABCC8 (SUR1) gene.

Thakur S, Flanagan SE, Ellard S, Verma IC.

Indian Pediatr. 2011 Sep;48(9):733-4.

PMID:
21992908
11.

Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism.

Suchi M, MacMullen CM, Thornton PS, Adzick NS, Ganguly A, Ruchelli ED, Stanley CA.

Mod Pathol. 2006 Jan;19(1):122-9.

12.

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 1;102(7):1286-91.

13.

The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism.

Giurgea I, Sempoux C, Bellanné-Chantelot C, Ribeiro M, Hubert L, Boddaert N, Saudubray JM, Robert JJ, Brunelle F, Rahier J, Jaubert F, Nihoul-Fékété C, de Lonlay P.

J Clin Endocrinol Metab. 2006 Oct;91(10):4118-23. Epub 2006 Aug 1.

PMID:
16882742
14.
15.

Congenital hyperinsulinism: marked clinical heterogeneity in siblings with identical mutations in the ABCC8 gene.

Kapoor RR, Flanagan SE, Ellard S, Hussain K.

Clin Endocrinol (Oxf). 2012 Feb;76(2):312-3. doi: 10.1111/j.1365-2265.2011.04203.x. No abstract available.

PMID:
21851374
16.

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
17.

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

19.
20.

The heterogeneity of focal forms of congenital hyperinsulinism.

Ismail D, Kapoor RR, Smith VV, Ashworth M, Blankenstein O, Pierro A, Flanagan SE, Ellard S, Hussain K.

J Clin Endocrinol Metab. 2012 Jan;97(1):E94-9. doi: 10.1210/jc.2011-1628. Epub 2011 Oct 26.

PMID:
22031516

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