scholarly journals Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism

2019 ◽  
Vol 6 (1) ◽  
pp. 12-16 ◽  
Author(s):  
Jayne AL Houghton ◽  
Indraneel Banerjee ◽  
Guftar Shaikh ◽  
Shamila Jabbar ◽  
Thomas W Laver ◽  
...  
Keyword(s):  
Congenital Hyperinsulinism ◽  
Genetic Causes ◽  
Islet Morphology

Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism?

2017 ◽  
Vol 30 (12) ◽  
Author(s):  
Klara Rozenkova ◽  
Azizun Nessa ◽  
Barbora Obermannova ◽  
Lenka Elblova ◽  
Petra Dusatkova ◽  
...  
Keyword(s):  
Pathogenic Mechanism ◽  
Congenital Hyperinsulinism ◽  
Genetic Causes

AbstractBackground:Congenital hyperinsulinism (CHI) is frequently caused by mutations in one of the KMethods:As a model, we used a patient with transient CHI that paternally inherited novel heterozygous mutations inResults:We showed that the activation of the mutated KConclusions:Our findings may widen the spectrum of genetic causes of CHI and suggest a novel pathogenic mechanism of CHI that must however, be further investigated.

Genetic Causes of Joint Laxity

2008 ◽  
Vol 41 (7) ◽  
pp. 19
Author(s):  
HOWARD P. LEVY
Keyword(s):  
Joint Laxity ◽  
Genetic Causes

Lanreotide therapy for congenital hyperinsulinism

2014 ◽  
Author(s):  
Dinesh Giri ◽  
Zoe Yung ◽  
Mo Didi ◽  
Senthil Senniappan
Keyword(s):  
Congenital Hyperinsulinism

Congenital hyperinsulinism due to SUR1 (ABCC8) mutation in newborn twins: improvement of clinical outcome after eight years follow-up

2015 ◽  
Author(s):  
Betul Ersoy ◽  
Nermin Tansug ◽  
Abdulkadir Genc ◽  
Deniz Kizilay ◽  
Semiha Kiremitci ◽  
...  
Keyword(s):  
Clinical Outcome ◽  
Congenital Hyperinsulinism

Assessing impact of the provision of accessible information to families with Congenital Hyperinsulinism (CHI)

2016 ◽  
Author(s):  
Lauren Trimarco ◽  
Indi Banerjee ◽  
Lindsey Rigby ◽  
Louise Bowden ◽  
Maria Salomon Estebanez ◽  
...  
Keyword(s):  
Congenital Hyperinsulinism ◽  
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