TheHNF4AR76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype

Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia

(2013) Kevin Colclough et al.   HUMAN MUTATION

Multidomain integration in the structure of the HNF-4α nuclear receptor complex

(2013) Vikas Chandra et al.   NATURE

Novel Presentations of Congenital Hyperinsulinism due to Mutations in the MODY genes:HNF1AandHNF4A

(2012) Diana E. Stanescu et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

NOTCH2mutations in Alagille syndrome

(2011) Binita Maya Kamath et al.   JOURNAL OF MEDICAL GENETICS

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

(2011) Bertrand Isidor et al.   NATURE GENETICS

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

(2011) Michael A Simpson et al.   NATURE GENETICS

Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations

(2010) S E Flanagan et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

The spectrum ofABCC8mutations in Norwegian patients with congenital hyperinsulinism of infancy

(2009) T Sandal et al.   CLINICAL GENETICS

The Diabetic Phenotype in HNF4A Mutation Carriers Is Moderated By the Expression of HNF4A Isoforms From the P1 Promoter During Fetal Development

(2008) L. W. Harries et al.   DIABETES