187 related articles for article (PubMed ID: 38033998)
1. Genotype-phenotype correlation in Taiwanese children with diazoxide-unresponsive congenital hyperinsulinism.
Lee CT; Tsai WH; Chang CC; Chen PC; Fann CS; Chang HK; Liu SY; Wu MZ; Chiu PC; Hsu WM; Yang WS; Lai LP; Tsai WY; Yang SB; Chen PL
Front Endocrinol (Lausanne); 2023; 14():1283907. PubMed ID: 38033998
[TBL] [Abstract][Full Text] [Related]
2. Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism.
Saint-Martin C; Zhou Q; Martin GM; Vaury C; Leroy G; Arnoux JB; de Lonlay P; Shyng SL; Bellanné-Chantelot C
Clin Genet; 2015 May; 87(5):448-54. PubMed ID: 24814349
[TBL] [Abstract][Full Text] [Related]
3. Diazoxide-unresponsive congenital hyperinsulinism in children with dominant mutations of the β-cell sulfonylurea receptor SUR1.
Macmullen CM; Zhou Q; Snider KE; Tewson PH; Becker SA; Aziz AR; Ganguly A; Shyng SL; Stanley CA
Diabetes; 2011 Jun; 60(6):1797-804. PubMed ID: 21536946
[TBL] [Abstract][Full Text] [Related]
4. Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations.
Demirbilek H; Arya VB; Ozbek MN; Akinci A; Dogan M; Demirel F; Houghton J; Kaba S; Guzel F; Baran RT; Unal S; Tekkes S; Flanagan SE; Ellard S; Hussain K
Eur J Endocrinol; 2014 Jun; 170(6):885-92. PubMed ID: 24686051
[TBL] [Abstract][Full Text] [Related]
5. Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11.
Hewat TI; Yau D; Jerome JCS; Laver TW; Houghton JAL; Shields BM; Flanagan SE; Patel KA
Eur J Endocrinol; 2021 Oct; 185(6):813-818. PubMed ID: 34633981
[TBL] [Abstract][Full Text] [Related]
6. Clinical and genetic characterization of congenital hyperinsulinism in Spain.
Martínez R; Fernández-Ramos C; Vela A; Velayos T; Aguayo A; Urrutia I; Rica I; Castaño L;
Eur J Endocrinol; 2016 Jun; 174(6):717-26. PubMed ID: 27188453
[TBL] [Abstract][Full Text] [Related]
7. Mutational analysis of ABCC8, KCNJ11, GLUD1, HNF4A and GCK genes in 30 Chinese patients with congenital hyperinsulinism.
Sang Y; Xu Z; Liu M; Yan J; Wu Y; Zhu C; Ni G
Endocr J; 2014; 61(9):901-10. PubMed ID: 25008049
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.
Snider KE; Becker S; Boyajian L; Shyng SL; MacMullen C; Hughes N; Ganapathy K; Bhatti T; Stanley CA; Ganguly A
J Clin Endocrinol Metab; 2013 Feb; 98(2):E355-63. PubMed ID: 23275527
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
Kapoor RR; Flanagan SE; Arya VB; Shield JP; Ellard S; Hussain K
Eur J Endocrinol; 2013 Apr; 168(4):557-64. PubMed ID: 23345197
[TBL] [Abstract][Full Text] [Related]
12. Functional characterization of inactivating ABCC8 variants causing congenital hyperinsulinism.
Wang P; Liao H; Wang Q; Xie H; Xu B; Xiang Q; Wang H; Yang M; Liu S
Clin Genet; 2024 May; 105(5):549-554. PubMed ID: 38225536
[TBL] [Abstract][Full Text] [Related]
13. Molecular mechanisms of congenital hyperinsulinism due to autosomal dominant mutations in ABCC8.
Nessa A; Aziz QH; Thomas AM; Harmer SC; Tinker A; Hussain K
Hum Mol Genet; 2015 Sep; 24(18):5142-53. PubMed ID: 26092864
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Genotype and phenotype analysis of a cohort of patients with congenital hyperinsulinism based on DOPA-PET CT scanning.
Ni J; Ge J; Zhang M; Hussain K; Guan Y; Cheng R; Xi L; Zheng Z; Ren S; Luo F
Eur J Pediatr; 2019 Aug; 178(8):1161-1169. PubMed ID: 31218401
[TBL] [Abstract][Full Text] [Related]
16. Clinical Management and Gene Mutation Analysis of Children with Congenital Hyperinsulinism in South China.
Xu A; Cheng J; Sheng H; Wen Z; Lin Y; Zhou Z; Zeng C; Shao Y; Li C; Liu L; Li X
J Clin Res Pediatr Endocrinol; 2019 Nov; 11(4):400-409. PubMed ID: 31208162
[TBL] [Abstract][Full Text] [Related]
17. Update of variants identified in the pancreatic β-cell K
De Franco E; Saint-Martin C; Brusgaard K; Knight Johnson AE; Aguilar-Bryan L; Bowman P; Arnoux JB; Larsen AR; Sanyoura M; Greeley SAW; Calzada-León R; Harman B; Houghton JAL; Nishimura-Meguro E; Laver TW; Ellard S; Del Gaudio D; Christesen HT; Bellanné-Chantelot C; Flanagan SE
Hum Mutat; 2020 May; 41(5):884-905. PubMed ID: 32027066
[TBL] [Abstract][Full Text] [Related]
18. Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia.
Senniappan S; Sadeghizadeh A; Flanagan SE; Ellard S; Hashemipour M; Hosseinzadeh M; Salehi M; Hussain K
BMC Res Notes; 2015 Aug; 8():350. PubMed ID: 26268944
[TBL] [Abstract][Full Text] [Related]
19. Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia.
Flanagan SE; Kapoor RR; Banerjee I; Hall C; Smith VV; Hussain K; Ellard S
Clin Genet; 2011 Jun; 79(6):582-7. PubMed ID: 20573158
[TBL] [Abstract][Full Text] [Related]
20. Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism?
Rozenkova K; Nessa A; Obermannova B; Elblova L; Dusatkova P; Sumnik Z; Lebl J; Hussain K; Pruhova S
J Pediatr Endocrinol Metab; 2017 Nov; 30(12):1311-1315. PubMed ID: 29127764
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]