HuGE Literature Finder
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Records 1-20
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Clinical, genetic characteristics, management and long-term follow up of Turkish patients with congenital hyperinsulinism.
Journal of clinical research in pediatric endocrinology 2015 Dec . Güven Ayla, Cebeci Ay?e Nurcan, Ellard Sian, Flanagan Sarah |
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High incidence of heterozygous ABCC8 and HNF1A mutations in Czech patients with congenital hyperinsulinism.
The Journal of clinical endocrinology and metabolism 2015 Oct jc20152763. Rozenkova Klara, Malikova Jana, Nessa Azizun, Dusatkova Lenka, Bjørkhaug Lise, Obermannova Barbora, Dusatkova Petra, Kytnarova Jitka, Aukrust Ingvild, Najmi Laeya, Rypackova Blanka, Sumnik Zdenek, Lebl Jan, Njølstad Pål R, Hussain Khalid, Pruhova Stepan |
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ABCC8 R1420H loss-of-function variant in a Southwest American Indian community: association with increased birth weight and doubled risk of type 2 diabetes.
Diabetes 2015 Aug . Baier Leslie J, Muller Yunhua Li, Remedi Maria Sara, Traurig Michael, Piaggi Paolo, Wiessner Gregory, Huang Ke, Stacy Alyssa, Kobes Sayuko, Krakoff Jonathan, Bennett Peter H, Nelson Robert G, Knowler William C, Hanson Robert L, Nichols Colin G, Bogardus Clift |
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Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases.
Pediatric diabetes 2015 Feb . Gong Chunxiu, Huang Shuyue, Su Chang, Qi Zhan, Liu Fang, Wu Di, Cao Bingyan, Gu Yi, Li Wenjin, Liang Xuejun, Liu M |
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Screening for Mutations in ABCC8 and KCNJ11 Genes in Saudi Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) Patients.
Genes 2015 6 (2): 206-15. Adi Ahmad, Abbas Bassam Bin, Hamed Mohamed Al, Tassan Nada Al, Bakheet Da |
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Three novel pathogenic mutations in KATP channel genes and somatic imprinting alterations of the 11p15 region in pancreatic tissue in patients with congenital hyperinsulinism.
Hormone research in pædiatrics 2015 83 (3): 204-10. Lee Beom Hee, Lee Jin, Kim Jae-Min, Kang Minji, Kim Gu-Hwan, Choi Jin-Ho, Kim Jihun, Kim Chong Jai, Kim Dae-Yeon, Kim Seong-Chul, Yoo Han-Wo |
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Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations.
European journal of endocrinology / European Federation of Endocrine Societies 2014 Dec 171 (6): 685-95. Arya Ved Bhushan, Guemes Maria, Nessa Azizun, Alam Syeda, Shah Pratik, Gilbert Clare, Senniappan Senthil, Flanagan Sarah E, Ellard Sian, Hussain Khal |
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Novel ABCC8 (SUR1) gene mutations in Asian Indian children with congenital hyperinsulinemic hypoglycemia.
Annals of human genetics 2014 Sep 78 (5): 311-9. Jahnavi Suresh, Poovazhagi Varadarajan, Kanthimathi Sekar, Balamurugan Kandasamy, Bodhini Dhanasekaran, Yadav Jaivinder, Jain Vandana, Khadgawat Rajesh, Sikdar Mahuya, Bhavatharini Ayurchelvan, Das Ashok Kumar, Kaur Tanvir, Mohan Viswanathan, Radha Venkates |
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Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations.
European journal of endocrinology / European Federation of Endocrine Societies 2014 Jun 170 (6): 885-92. Demirbilek Huseyin, Arya Ved Bhushan, Ozbek Mehmet Nuri, Akinci Aysehan, Dogan Murat, Demirel Fatma, Houghton Jayne, Kaba Sultan, Guzel Fatma, Baran Riza Taner, Unal Sevim, Tekkes Selahattin, Flanagan Sarah E, Ellard Sian, Hussain Khal |
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CYP2C9, KCNJ11 and ABCC8 polymorphisms and the response to sulphonylurea treatment in type 2 diabetes patients.
European journal of clinical pharmacology 2014 Apr 70 (4): 421-8. Klen Jasna, Dolžan Vita, Janež Andr |
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Clinical and Molecular Characterisation of 300 patients with Congenital Hyperinsulinism.
European journal of endocrinology / European Federation of Endocrine Societies 2013 Jan . Kapoor RR, Flanagan SE, Arya VB, Shield JP, Ellard S, Hussain K |
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Clinical and molecular characterisation of hyperinsulinaemic hypoglycaemia in infants born small-for-gestational age.
Archives of disease in childhood. Fetal and neonatal edition 2013 Jan . Arya VB, Flanagan SE, Kumaran A, Shield JP, Ellard S, Hussain K, Kapoor RR |
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Genotype and Phenotype Correlations in 417 Children With Congenital Hyperinsulinism.
The Journal of clinical endocrinology and metabolism 2012 Dec . Snider KE, Becker S, Boyajian L, Shyng SL, Macmullen C, Hughes N, Ganapathy K, Bhatti T, Stanley CA, Ganguly A |
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Association of KCNJ11 E23K gene polymorphism with hypoglycemia in sulfonylurea-treated type 2 diabetic patients.
Diabetes research and clinical practice 2012 Oct 98 (1): 119-24. Ragia Georgia, Tavridou Anna, Petridis Ioannis, Manolopoulos Vangelis |
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Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.
European journal of endocrinology / European Federation of Endocrine Societies 2010 May 162 (5): 987-92. Flanagan S E, Kapoor R R, Mali G, Cody D, Murphy N, Schwahn B, Siahanidou T, Banerjee I, Akcay T, Rubio-Cabezas O, Shield J P H, Hussain K, Ellard |
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The E23K variant of KCNJ11 and the risk for severe sulfonylurea-induced hypoglycemia in patients with type 2 diabetes.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et métabolisme 2009 May 41 (5): 387-90. Holstein A, Hahn M, Stumvoll M, Kovacs |
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The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy.
Clinical genetics 2009 May 75 (5): 440-8. Sandal T, Laborie L B, Brusgaard K, Eide S A, Christesen H B T, Søvik O, Njølstad P R, Molven |
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Alanine in HI: a silent mutation cries out!
Advances in experimental medicine and biology 2008 614 145-50. Shah J H, Maguire D J, Munce T B, Cotterill |
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The Glu23Lys polymorphism in KCNJ11 and impaired hypoglycaemia awareness in patients with type 1 diabetes.
Journal of human genetics 2005 50 (10): 530-3. Holstein Andreas, Plaschke Armin, Stumvoll Michael, Kovacs Pet |
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Genotype-phenotype associations in patients with severe hyperinsulinism of infancy.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 0 10 (1): 25-34. Greer Ristan M, Shah Janaki, Jeske Yvette W, Brown David, Walker Rosslyn M, Cowley David, Bowling Francis G, Liaskou Daphne, Harris Mark, Thomsett Michael J, Choong Catherine, Bell John R, Jack Michelle M, Cotterill Andrew |
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- Page last updated:Oct 10, 2019
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