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

[1]  C. Lintas,et al.  Unraveling molecular pathways shared by Kabuki and Kabuki‐like syndromes , 2018, Clinical genetics.

[2]  K. Ihara,et al.  Hyperinsulinemic hypoglycemia in Beckwith–Wiedemann, Sotos, and Kabuki syndromes: A nationwide survey in Japan , 2017, American journal of medical genetics. Part A.

[3]  T. Meitinger,et al.  Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2 , 2016, Human mutation.

[4]  D. Coman,et al.  Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review , 2016, Clinics and practice.

[5]  C. Stanley.  Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders. , 2016, The Journal of clinical endocrinology and metabolism.

[6]  K. Yoshiura,et al.  Neonatal case of novel KMT2D mutation in Kabuki syndrome with severe hypoglycemia , 2015, Pediatrics international : official journal of the Japan Pediatric Society.

[7]  K. Hussain,et al.  Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X) , 2015, Case reports in pediatrics.

[8]  B. Grisart,et al.  Novel KDM6A (UTX) mutations and a clinical and molecular review of the X‐linked Kabuki syndrome (KS2) , 2015, Clinical genetics.

[9]  Soma Das,et al.  Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach. , 2014, Molecular genetics and metabolism.

[10]  K. Kosaki,et al.  A novel mutation in SOX3 polyalanine tract: a case of kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3 , 2014, Pituitary.

[11]  Y. Wada,et al.  Multiple phenotypes in phosphoglucomutase 1 deficiency. , 2014, The New England journal of medicine.

[12]  K. Hussain,et al.  Hypoglycemia in Kabuki syndrome , 2014, American journal of medical genetics. Part A.

[13]  M. Polak,et al.  Management strategies for neonatal hypoglycemia. , 2013, The journal of pediatric pharmacology and therapeutics : JPPT : the official journal of PPAG.

[14]  B. Wollnik,et al.  Unmasking Kabuki syndrome , 2013, Clinical genetics.

[15]  N. Niikawa,et al.  KDM6A Point Mutations Cause Kabuki Syndrome , 2013, Human mutation.

[16]  C. Stanley,et al.  Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A. , 2012, The Journal of clinical endocrinology and metabolism.

[17]  M. Digilio,et al.  Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. , 2012, American journal of human genetics.

[18]  W. Reardon,et al.  How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum , 2011, European Journal of Human Genetics.

[19]  F. Brunelle,et al.  Congenital hyperinsulinism: current trends in diagnosis and therapy , 2011, Orphanet journal of rare diseases.

[20]  D. Wieczorek,et al.  A mutation screen in patients with Kabuki syndrome , 2011, Human Genetics.

[21]  H. Smeets,et al.  MLL2 mutation spectrum in 45 patients with Kabuki syndrome , 2011, Human mutation.

[22]  Emily H Turner,et al.  Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome , 2010, Nature Genetics.

[23]  C. Stanley,et al.  Mechanism of Hyperinsulinism in Short-chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Involves Activation of Glutamate Dehydrogenase* , 2010, The Journal of Biological Chemistry.

[24]  C. Bellanné-Chantelot,et al.  Mutations in UCP2 in Congenital Hyperinsulinism Reveal a Role for Regulation of Insulin Secretion , 2008, PloS one.

[25]  J. Kere,et al.  Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells. , 2007, American journal of human genetics.

[26]  K. Hussain,et al.  Costello syndrome and hyperinsulinemic hypoglycemia , 2005, American journal of medical genetics. Part A.

[27]  L. Hudgins,et al.  Kabuki syndrome: a review , 2004, Clinical genetics.

[28]  A. Munnich,et al.  Atypical findings in Kabuki syndrome: Report of 8 patients in a series of 20 and review of the literature , 2004, American journal of medical genetics. Part A.

[29]  T. Hansen,et al.  A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene. , 2004, Diabetes.

[30]  E. Haan,et al.  Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa–Kuroki) syndrome , 2004, American journal of medical genetics. Part A.

[31]  C. Stanley,et al.  Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. , 1998, The New England journal of medicine.

[32]  F M Matschinsky,et al.  Familial hyperinsulinism caused by an activating glucokinase mutation. , 1998, The New England journal of medicine.

[33]  C. Stanley,et al.  Hyperinsulinism in infants and children. , 1997, Pediatric clinics of North America.

[34]  J. Bryan,et al.  Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. , 1995, Science.

[35]  J. Opitz,et al.  Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. , 1988, American journal of medical genetics.

[36]  C. Stanley,et al.  Biomarkers of Insulin for the Diagnosis of Hyperinsulinemic Hypoglycemia in Infants and Children. , 2016, The Journal of pediatrics.

[37]  K. Hussain,et al.  Hyperinsulinism in developmental syndromes. , 2009, Endocrine development.

[38]  F. Yau,et al.  Isolated Adrenocorticotropin Deficiency in a Child with Kabuki syndrome , 2005, Journal of pediatric endocrinology & metabolism : JPEM.

[39]  G. Cote,et al.  The molecular basis for familial persistent hyperinsulinemic hypoglycemia of infancy. , 1996, Proceedings of the Association of American Physicians.