| scholarly article | Q13442814 |
| P50 | author | Diva D De León | Q79716162 |
| P2093 | author name string | Arupa Ganguly | |
| Changhong Li | |||
| Charles A Stanley | |||
| Pan Chen | |||
| Tricia Bhatti | |||
| N Scott Adzick | |||
| Vaneeta Bamba | |||
| Susan A Becker | |||
| Laura Conlin | |||
| Kara E Boodhansingh | |||
| Christopher E Gibson | |||
| P2860 | cites work | Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome | Q24622470 |
| Identification of JmjC domain-containing UTX and JMJD3 as histone H3 lysine 27 demethylases | Q24676547 | ||
| A histone H3 lysine 27 demethylase regulates animal posterior development | Q28248320 | ||
| Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome | Q28256091 | ||
| The histone demethylase UTX enables RB-dependent cell fate control | Q28272073 | ||
| The H3K27me3 demethylase dUTX is a suppressor of Notch- and Rb-dependent tumors in Drosophila | Q33826493 | ||
| Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase | Q34181596 | ||
| Unmasking Kabuki syndrome | Q34310239 | ||
| Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group | Q34574609 | ||
| Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark | Q34618515 | ||
| Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients | Q34685121 | ||
| Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis | Q35135033 | ||
| Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X). | Q35598895 | ||
| How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum | Q35837668 | ||
| GLP-1 receptor antagonist exendin-(9-39) elevates fasting blood glucose levels in congenital hyperinsulinism owing to inactivating mutations in the ATP-sensitive K+ channel | Q36249759 | ||
| Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome. | Q36542924 | ||
| Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders | Q36716020 | ||
| Turner's syndrome in Italy: familial characteristics, neonatal data, standards for birth weight and for height and weight from infancy to adulthood | Q36734958 | ||
| Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate | Q36770275 | ||
| X-chromosome gene dosage and the risk of diabetes in Turner syndrome | Q37341881 | ||
| Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review | Q37345141 | ||
| Regulating a master regulator: establishing tissue-specific gene expression in skeletal muscle | Q37780648 | ||
| Low-level hyperinsulinism with hypoglycemic spells in an infant with mosaic Turner syndrome and mild Kabuki-like phenotype: a case report and review of the literature | Q38129372 | ||
| Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2). | Q38188009 | ||
| Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting | Q39433677 | ||
| Gonadal dysgenesis and leucine-sensitive hypoglycemia | Q41635926 | ||
| Congenital Hypoglycemia Disorders: New Aspects of Etiology, Diagnosis, Treatment and Outcomes: Highlights of the Proceedings of the Congenital Hypoglycemia Disorders Symposium, Philadelphia April 2016. | Q41809055 | ||
| Functional and Metabolomic Consequences of KATP Channel Inactivation in Human Islets. | Q42508897 | ||
| Impaired insulin secretion in the Turner metabolic syndrome | Q44968825 | ||
| Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations | Q46759019 | ||
| Mosaic Turner syndrome and hyperinsulinaemic hypoglycaemia | Q48298110 | ||
| Current best practice in the management of Turner syndrome | Q49985296 | ||
| Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. | Q50504852 | ||
| EZH2 and KDM6A act as an epigenetic switch to regulate mesenchymal stem cell lineage specification. | Q50715828 | ||
| MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome. | Q50789773 | ||
| Further delineation of Kabuki syndrome in 48 well-defined new individuals. | Q51933516 | ||
| Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature. | Q51938985 | ||
| Hypoglycemia in Kabuki syndrome. | Q54482735 | ||
| Neonatal case of novel KMT2D mutation in Kabuki syndrome with severe hypoglycemia | Q87248919 | ||
| P433 | issue | 6 | |
| P921 | main subject | Turner syndrome | Q202849 |
| haploinsufficiency | Q852654 | ||
| monosomy X | Q56014434 | ||
| P304 | page(s) | 413-422 | |
| P577 | publication date | 2018-06-14 | |
| P1433 | published in | Hormone Research in Paediatrics | Q45126686 |
| P1476 | title | Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency | |
| P478 | volume | 89 |
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