HuGE Literature Finder
Records 1-26
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Prolonged episodes of hypoglycaemia in HNF4A-MODY mutation carriers with IGT. Evidence of persistent hyperinsulinism into early adulthood.
Acta diabetologica 2016 Aug . Bacon S, Kyithar M P, Condron E M, Vizzard N, Burke M, Byrne M |
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Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk.
Diabetologia 2016 Apr . Vedovato Natascia, Cliff Edward, Proks Peter, Poovazhagi Varadarajan, Flanagan Sarah E, Ellard Sian, Hattersley Andrew T, Ashcroft Frances |
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Histologic and Molecular Profile of Pediatric Insulinomas: Evidence of a Paternal Parent-of-Origin Effect.
The Journal of clinical endocrinology and metabolism 2016 Jan jc20152914. Bhatti Tricia R, Ganapathy Karthik, Huppmann Alison R, Conlin Laura, Boodhansingh Kara E, MacMullen Courtney, Becker Susan, Ernst Linda M, Adzick N Scott, Ruchelli Eduardo D, Ganguly Arupa, Stanley Charles |
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Feeding Problems Are Persistent in Children with Severe Congenital Hyperinsulinism.
Frontiers in endocrinology 2016 7 8. Banerjee Indraneel, Forsythe Lynette, Skae Mars, Avatapalle Hima Bindu, Rigby Lindsey, Bowden Louise E, Craigie Ross, Padidela Raja, Ehtisham Sarah, Patel Leena, Cosgrove Karen E, Dunne Mark J, Clayton Peter |
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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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Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients.
Molecular genetics & genomic medicine 2015 Nov 3 (6): 526-36. Fan Zi-Chuan, Ni Jin-Wen, Yang Lin, Hu Li-Yuan, Ma Si-Min, Mei Mei, Sun Bi-Jun, Wang Hui-Jun, Zhou Wen-H |
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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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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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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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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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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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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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ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia.
Genetics in medicine : official journal of the American College of Medical Genetics 2011 Oct 13 (10): 891-4. Glaser Benjamin, Blech Ilana, Krakinovsky Yocheved, Ekstein Josef, Gillis David, Mazor-Aronovitch Kineret, Landau Heddy, Abeliovich Dvor |
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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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Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.
European journal of endocrinology / European Federation of Endocrine Societies 2008 Jul 159 (1): 27-34. Christesen Henrik B T, Tribble Nicholas D, Molven Anders, Siddiqui Juveria, Sandal Tone, Brusgaard Klaus, Ellard Sian, Njølstad Pål R, Alm Jan, Brock Jacobsen Bendt, Hussain Khalid, Gloyn Anna |
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- Page last updated:Jan 19, 2021
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