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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 15, 2025. (Total: 235337Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Hypoglycemia and HNF4A[original query]
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
Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees.
The Journal of clinical endocrinology and metabolism 2011 1 96 (3): E498-502.
Flanagan Sarah E, Patch Ann-Marie, Locke Jonathan M, Akcay Teoman, Simsek Enver, Alaei Mohammadreza, Yekta Zeinab, Desai Meena, Kapoor Ritika R, Hussain Khalid, Ellard Si
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
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
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
The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes.
Diabetes 2016 Aug .
Laver Thomas W, Colclough Kevin, Shepherd Maggie, Patel Kashyap, Houghton Jayne Al, Dusatkova Petra, Pruhova Stepanka, Morris Andrew D, Palmer Colin N, McCarthy Mark I, Ellard Sian, Hattersley Andrew T, Weedon Michael
Clinical and genetic characteristics of congenital hyperinsulinism in Norway: A nationwide cohort study.
The Journal of clinical endocrinology and metabolism 2024 7 .
Christoffer Drabløs Velde, Janne Molnes, Siren Berland, Pål Rasmus Njølstad, Anders Molv
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