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Cornea, ISSN 0277-3740, 09/2019, Volume 38, Issue 9, pp. 1182 - 1184
PURPOSE:Kabuki syndrome (KS) is a rare congenital disorder characterized by multiple systemic anomalies and unique facial characteristics. Here, we present the... 
congenital corneal opacity | OPHTHALMOLOGY | KMT2D | MLL2 | Kabuki syndrome
Journal Article
Neuropathology and applied neurobiology, ISSN 0305-1846, 2/2014, Volume 40, Issue 2, pp. 217 - 220
Journal Article
Immunologic Research, ISSN 0257-277X, 4/2016, Volume 64, Issue 2, pp. 345 - 359
Journal Article
Journal Article
SCIENCE TRANSLATIONAL MEDICINE, ISSN 1946-6234, 10/2014, Volume 6, Issue 256
Kabuki syndrome is caused by haploinsufficiency for either of two genes that promote the opening of chromatin. If an imbalance between open and closed... 
CHIP-SEQ | MEDICINE, RESEARCH & EXPERIMENTAL | METHYLTRANSFERASE MLL2 | MEMORY FORMATION | GENE-EXPRESSION | NEUROGENESIS | MICE | MUTATIONS | DENTATE GYRUS | SYNAPTIC PLASTICITY | DIFFERENTIAL EXPRESSION ANALYSIS | CELL BIOLOGY
Journal Article
Cancer Cell International, ISSN 1475-2867, 02/2018, Volume 18, Issue 1, pp. 26 - 10
Background: Chronic myeloid leukemia (CML) is a clonal myeloproliferative neoplasm whose pathogenesis is linked to the Philadelphia chromosome presence that... 
MLL3/KMT2C | Lysine methyltransferase | Chronic myeloid leukemia | Epigenetic | MLL2/KMT2D | Genetic alterations | CELLS | PROFILES | TRANSCRIPTION | INDUCTION | CANCER | P53 | FAMILY | ONCOLOGY | MALIGNANT HEMATOPOIESIS | GENE-EXPRESSION | TUMOR-SUPPRESSOR
Journal Article
Journal of Pediatric Hematology/Oncology, ISSN 1077-4114, 07/2018, p. 1
The ETV6-ABL1 fusion is a rare genetic aberration classified as Philadelphia chromosome-like high-risk B-cell precursor acute lymphoblastic leukemia. We... 
Philadelphia chromosome-like acute lymphoblastic leukemia | MLL2 | imatinib | ETV6-ABL fusion | integrative clinical sequencing
Journal Article
Journal Article
by Tam, HM and Leung, JY and Lo, IFM and Luk, HM
HONG KONG JOURNAL OF PAEDIATRICS, ISSN 1013-9923, 01/2017, Volume 22, Issue 1, pp. 54 - 54
Journal Article
Development (Cambridge), ISSN 0950-1991, 12/2018, Volume 145, Issue 23, p. dev169102
The mammalian male germline is sustained by a pool of spermatogonial stem cells (SSCs) that can transmit both genetic and epigenetic information to offspring.... 
Chromatin | Mouse | Spermatogenesis | Spermatogonia | Stem cells | Priming | Histone | RNA-POLYMERASE-II | MLL2 | METHYLATION | CHROMATIN SIGNATURES | PROTEIN | TRANSCRIPTION | DEVELOPMENTAL BIOLOGY | SPERM | GENES | HISTONE MODIFICATIONS
Journal Article
International Journal of Molecular Sciences, ISSN 1661-6596, 01/2018, Volume 19, Issue 1, p. 82
Journal Article
Genetics in Medicine, ISSN 1098-3600, 01/2019, Volume 21, Issue 1, pp. 233 - 242
Purpose: Describe the clinical and molecular findings of patients with Kabuki syndrome (KS) who present with hypoglycemia due to congenital hyperinsulinism... 
KMT2D | Kabuki syndrome | hyperinsulinism | Hypoglycemia | KDM6A | MLL2 | DIAGNOSIS | DEFICIENCY | INSULIN | GENE | INFANTS | GENETICS & HEREDITY | MUTATIONS
Journal Article
Journal of Cancer Research and Clinical Oncology, ISSN 0171-5216, 6/2018, Volume 144, Issue 6, pp. 1025 - 1035
Journal Article