Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann, Sotos, and Kabuki syndromes: A nationwide survey in Japan

(2016) Naoko Toda et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutation Update for Kabuki Syndrome GenesKMT2DandKDM6Aand Further Delineation of X-Linked Kabuki Syndrome Subtype 2

(2016) Nina Bögershausen et al.   HUMAN MUTATION

Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders

(2016) Charles A. Stanley   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Biomarkers of Insulin for the Diagnosis of Hyperinsulinemic Hypoglycemia in Infants and Children

(2016) Christine Ferrara et al.   JOURNAL OF PEDIATRICS

Neonatal case of novelKMT2Dmutation in Kabuki syndrome with severe hypoglycemia

(2015) Yuji Gohda et al.   PEDIATRICS INTERNATIONAL

NovelKDM6A(UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)

(2014) S. Banka et al.   CLINICAL GENETICS

Phenotypic heterogeneity in monogenic diabetes: The clinical and diagnostic utility of a gene panel-based next-generation sequencing approach

(2014) G. Alkorta-Aranburu et al.   MOLECULAR GENETICS AND METABOLISM

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

(2014) Laura C. Tegtmeyer et al.   NEW ENGLAND JOURNAL OF MEDICINE

Hypoglycemia in Kabuki syndrome

(2013) Anbezhil Subbarayan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel mutation in SOX3 polyalanine tract: a case of kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3

(2013) Masaki Takagi et al.   Pituitary

Unmasking Kabuki syndrome

(2012) N Bögershausen et al.   CLINICAL GENETICS

KDM6A Point Mutations Cause Kabuki Syndrome

(2012) Noriko Miyake et al.   HUMAN MUTATION

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

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

Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome

(2011) Damien Lederer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

(2011) Siddharth Banka et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A mutation screen in patients with Kabuki syndrome

(2011) Yun Li et al.   HUMAN GENETICS

Congenital hyperinsulinism: current trends in diagnosis and therapy

(2011) Jean-Baptiste Arnoux et al.   Orphanet Journal of Rare Diseases

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

(2010) Aimée D. C. Paulussen et al.   HUMAN MUTATION

Mechanism of Hyperinsulinism in Short-chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Involves Activation of Glutamate Dehydrogenase

(2010) Changhong Li et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

Mutations in UCP2 in Congenital Hyperinsulinism Reveal a Role for Regulation of Insulin Secretion

(2008) M. Mar González-Barroso et al.   PLoS One