196 related articles for article (PubMed ID: 21716120)
1. ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia.
Glaser B; Blech I; Krakinovsky Y; Ekstein J; Gillis D; Mazor-Aronovitch K; Landau H; Abeliovich D
Genet Med; 2011 Oct; 13(10):891-4. PubMed ID: 21716120
[TBL] [Abstract][Full Text] [Related]
2. The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy.
Sandal T; Laborie LB; Brusgaard K; Eide SA; Christesen HB; Søvik O; Njølstad PR; Molven A
Clin Genet; 2009 May; 75(5):440-8. PubMed ID: 19475716
[TBL] [Abstract][Full Text] [Related]
3. ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.
Bellanné-Chantelot C; Saint-Martin C; Ribeiro MJ; Vaury C; Verkarre V; Arnoux JB; Valayannopoulos V; Gobrecht S; Sempoux C; Rahier J; Fournet JC; Jaubert F; Aigrain Y; Nihoul-Fékété C; de Lonlay P
J Med Genet; 2010 Nov; 47(11):752-9. PubMed ID: 20685672
[TBL] [Abstract][Full Text] [Related]
4. KATP channel mutations in congenital hyperinsulinism.
Saint-Martin C; Arnoux JB; de Lonlay P; Bellanné-Chantelot C
Semin Pediatr Surg; 2011 Feb; 20(1):18-22. PubMed ID: 21185999
[TBL] [Abstract][Full Text] [Related]
5. ABCC8 (SUR1) and KCNJ11 (KIR6.2) mutations in persistent hyperinsulinemic hypoglycemia of infancy and evaluation of different therapeutic measures.
Darendeliler F; Fournet JC; Baş F; Junien C; Gross MS; Bundak R; Saka N; Günöz H
J Pediatr Endocrinol Metab; 2002; 15(7):993-1000. PubMed ID: 12199344
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 21992908
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 11395395
[TBL] [Abstract][Full Text] [Related]
8. Clinical characteristics of recessive and dominant congenital hyperinsulinism due to mutation(s) in the ABCC8/KCNJ11 genes encoding the ATP-sensitive potasium channel in the pancreatic beta cell.
Oçal G; Flanagan SE; Hacihamdioğlu B; Berberoğlu M; Siklar Z; Ellard S; Savas Erdeve S; Okulu E; Akin IM; Atasay B; Arsan S; Yağmurlu A
J Pediatr Endocrinol Metab; 2011; 24(11-12):1019-23. PubMed ID: 22308858
[TBL] [Abstract][Full Text] [Related]
9. Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations.
Arya VB; Guemes M; Nessa A; Alam S; Shah P; Gilbert C; Senniappan S; Flanagan SE; Ellard S; Hussain K
Eur J Endocrinol; 2014 Dec; 171(6):685-95. PubMed ID: 25201519
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 16882742
[TBL] [Abstract][Full Text] [Related]
11. The genetic basis of congenital hyperinsulinism.
James C; Kapoor RR; Ismail D; Hussain K
J Med Genet; 2009 May; 46(5):289-99. PubMed ID: 19254908
[TBL] [Abstract][Full Text] [Related]
12. Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.
Pinney SE; MacMullen C; Becker S; Lin YW; Hanna C; Thornton P; Ganguly A; Shyng SL; Stanley CA
J Clin Invest; 2008 Aug; 118(8):2877-86. PubMed ID: 18596924
[TBL] [Abstract][Full Text] [Related]
13. Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism.
Park SE; Flanagan SE; Hussain K; Ellard S; Shin CH; Yang SW
Eur J Endocrinol; 2011 Jun; 164(6):919-26. PubMed ID: 21422196
[TBL] [Abstract][Full Text] [Related]
14. Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).
Fernández-Marmiesse A; Salas A; Vega A; Fernández-Lorenzo JR; Barreiro J; Carracedo A
Hum Mutat; 2006 Feb; 27(2):214. PubMed ID: 16429405
[TBL] [Abstract][Full Text] [Related]
15. Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: clinical and functional characterization of two novel ABCC8 mutations.
Faletra F; Snider K; Shyng SL; Bruno I; Athanasakis E; Gasparini P; Dionisi-Vici C; Ventura A; Zhou Q; Stanley CA; Burlina A
Gene; 2013 Mar; 516(1):122-5. PubMed ID: 23266803
[TBL] [Abstract][Full Text] [Related]
16. [Congenital hyperinsulinism in newborn and infant].
Giurgea I; Ribeiro MJ; Boddaert N; Touati G; Robert JJ; Saudubray JM; Jaubert F; Bellanné-Chantelot C; Brunelle F; Nihoul-Fékété C; de Lonlay P
Arch Pediatr; 2005 Nov; 12(11):1628-35. PubMed ID: 16198094
[TBL] [Abstract][Full Text] [Related]
17. Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia.
Flanagan S; Damhuis A; Banerjee I; Rokicki D; Jefferies C; Kapoor R; Hussain K; Ellard S
Pediatr Diabetes; 2012 May; 13(3):285-9. PubMed ID: 21978130
[TBL] [Abstract][Full Text] [Related]
18. Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies.
Muzyamba M; Farzaneh T; Behe P; Thomas A; Christesen HB; Brusgaard K; Hussain K; Tinker A
Clin Endocrinol (Oxf); 2007 Jul; 67(1):115-24. PubMed ID: 17466004
[TBL] [Abstract][Full Text] [Related]
19. Congenital hyperinsulinism due to a compound heterozygous ABCC8 mutation with spontaneous resolution at eight weeks.
Kumaran A; Kapoor RR; Flanagan SE; Ellard S; Hussain K
Horm Res Paediatr; 2010; 73(4):287-92. PubMed ID: 20215776
[TBL] [Abstract][Full Text] [Related]
20. Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycaemia of infancy.
Ohkubo K; Nagashima M; Naito Y; Taguchi T; Suita S; Okamoto N; Fujinaga H; Tsumura K; Kikuchi K; Ono J
Clin Endocrinol (Oxf); 2005 Apr; 62(4):458-65. PubMed ID: 15807877
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
