| scholarly article | Q13442814 |
| P50 | author | James F. Gusella | Q1602688 |
| Colby Chiang | Q42290458 | ||
| Jill A Rosenfeld | Q55712565 | ||
| Carrie Hanscom | Q114432075 | ||
| Ian Blumenthal | Q114432076 | ||
| Shahrin Pereira | Q114579810 | ||
| Zehra Ordulu | Q114579850 | ||
| Joanne M Drautz | Q125306203 | ||
| P2093 | author name string | Carl Ernst | |
| Michael E Talkowski | |||
| Lisa G Shaffer | |||
| Carol Clericuzio | |||
| Cynthia C Morton | |||
| David J Harris | |||
| Amelia M Lindgren | |||
| Lea Velsher | |||
| Joris Vermeesch | |||
| Eric C Liao | |||
| Tania Pynn | |||
| Tatiana Hoyos | |||
| P2860 | cites work | Rare chromosomal deletions and duplications increase risk of schizophrenia | Q22337245 |
| Purification of the human NF-E2 complex: cDNA cloning of the hematopoietic cell-specific subunit and evidence for an associated partner | Q24311897 | ||
| Knockdown of ALR (MLL2) reveals ALR target genes and leads to alterations in cell adhesion and growth | Q24337427 | ||
| Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome | Q24607321 | ||
| Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome | Q24622470 | ||
| Genome-wide association study of bipolar disorder in European American and African American individuals | Q24628870 | ||
| Fast and accurate short read alignment with Burrows-Wheeler transform | Q24653853 | ||
| Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder | Q24655630 | ||
| Identification of JmjC domain-containing UTX and JMJD3 as histone H3 lysine 27 demethylases | Q24676547 | ||
| Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method | Q25938999 | ||
| Structural basis for histone H3 Lys 27 demethylation by UTX/KDM6A | Q27675100 | ||
| High-resolution profiling of histone methylations in the human genome | Q27860906 | ||
| The Sequence Alignment/Map format and SAMtools | Q27860966 | ||
| Chromatin modifications and their function | Q27861067 | ||
| The complex language of chromatin regulation during transcription | Q28131748 | ||
| UTX and JMJD3 are histone H3K27 demethylases involved in HOX gene regulation and development | Q28241669 | ||
| A histone H3 lysine 27 demethylase regulates animal posterior development | Q28248320 | ||
| Common polygenic variation contributes to risk of schizophrenia and bipolar disorder | Q28250609 | ||
| Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. | Q35923213 | ||
| Sex-specific differences in expression of histone demethylases Utx and Uty in mouse brain and neurons | Q37099137 | ||
| Dual role for the methyltransferase G9a in the maintenance of beta-globin gene transcription in adult erythroid cells | Q37416523 | ||
| Diverse ways to be specific: a novel Zn-binding domain confers substrate specificity to UTX/KDM6A histone H3 Lys 27 demethylase | Q39196459 | ||
| Histone H3K27me3 demethylases KDM6A and KDM6B modulate definitive endoderm differentiation from human ESCs by regulating WNT signaling pathway. | Q39294157 | ||
| Jmjd3 and UTX play a demethylase-independent role in chromatin remodeling to regulate T-box family member-dependent gene expression | Q39629008 | ||
| Interpretation of genomic copy number variants using DECIPHER. | Q42631920 | ||
| Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene | Q43074518 | ||
| Sex differences in sex chromosome gene expression in mouse brain | Q46717400 | ||
| Musculoskeletal patterning in the pharyngeal segments of the zebrafish embryo. | Q48652608 | ||
| A two-color acid-free cartilage and bone stain for zebrafish larvae. | Q50468807 | ||
| The H3K27 demethylase Utx regulates somatic and germ cell epigenetic reprogramming. | Q50568919 | ||
| Embryonic fate map of first pharyngeal arch structures in the sox10: kaede zebrafish transgenic model. | Q50786750 | ||
| De novo 5q35.5 duplication with clinical presentation of Sotos syndrome. | Q52617345 | ||
| 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 | ||
| KDM6A point mutations cause Kabuki syndrome | Q28277325 | ||
| Genome regulation by polycomb and trithorax proteins | Q28289984 | ||
| UTX and UTY demonstrate histone demethylase-independent function in mouse embryonic development | Q28484095 | ||
| UTX mediates demethylation of H3K27me3 at muscle-specific genes during myogenesis | Q28587655 | ||
| UTX, a histone H3-lysine 27 demethylase, acts as a critical switch to activate the cardiac developmental program | Q28591296 | ||
| Genomewide association for schizophrenia in the CATIE study: results of stage 1 | Q28659652 | ||
| Identification of loci associated with schizophrenia by genome-wide association and follow-up | Q29417130 | ||
| Active genes are tri-methylated at K4 of histone H3 | Q29547668 | ||
| The diverse functions of histone lysine methylation | Q29614523 | ||
| WDR5 associates with histone H3 methylated at K4 and is essential for H3 K4 methylation and vertebrate development | Q29614526 | ||
| Methylation of histone H3 Lys 4 in coding regions of active genes | Q29614680 | ||
| A copy number variation morbidity map of developmental delay | Q29616033 | ||
| High-resolution in situ hybridization to whole-mount zebrafish embryos | Q29617529 | ||
| Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration | Q30424800 | ||
| Sotos syndrome: a study of the diagnostic criteria and natural history | Q33672767 | ||
| Characterising and predicting haploinsufficiency in the human genome. | Q33728629 | ||
| The H3K27me3 demethylase dUTX is a suppressor of Notch- and Rb-dependent tumors in Drosophila | Q33826493 | ||
| Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research | Q33865401 | ||
| Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations | Q34015481 | ||
| Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency | Q34057213 | ||
| Global analysis of mRNA decay and abundance in Escherichia coli at single-gene resolution using two-color fluorescent DNA microarrays | Q34075213 | ||
| Haploinsufficiency of NSD1 causes Sotos syndrome | Q34118696 | ||
| MLL2 mutation spectrum in 45 patients with Kabuki syndrome | Q34161572 | ||
| A mutation screen in patients with Kabuki syndrome | Q34186982 | ||
| A new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation | Q34283519 | ||
| The UTX gene escapes X inactivation in mice and humans | Q34460028 | ||
| CEREBRAL GIGANTISM IN CHILDHOOD. A SYNDROME OF EXCESSIVELY RAPID GROWTH AND ACROMEGALIC FEATURES AND A NONPROGRESSIVE NEUROLOGIC DISORDER. | Q34540876 | ||
| Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. | Q34542269 | ||
| Demethylation of H3K27 regulates polycomb recruitment and H2A ubiquitination | Q34673352 | ||
| Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients | Q35121146 | ||
| Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder | Q35286605 | ||
| Histone lysine methylation: a signature for chromatin function | Q35571556 | ||
| Establishment of Stably EBV-Transformed Cell Lines from Residual Clinical Blood Samples for Use in Performance Evaluation and Quality Assurance in Molecular Genetic Testing | Q35870313 | ||
| P433 | issue | 5 | |
| P921 | main subject | haploinsufficiency | Q852654 |
| P304 | page(s) | 537-552 | |
| P577 | publication date | 2013-01-25 | |
| P1433 | published in | Human Genetics | Q5937167 |
| P1476 | title | Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate | |
| P478 | volume | 132 |
| Q36676795 | Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis† |
| Q89767558 | Cancer-derived UTX TPR mutations G137V and D336G impair interaction with MLL3/4 complexes and affect UTX subcellular localization |
| Q89105315 | Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency |
| Q49960138 | Conserved microRNA targeting reveals preexisting gene dosage sensitivities that shaped amniote sex chromosome evolution |
| Q52669948 | De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review. |
| Q34987350 | Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease |
| Q41035876 | Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature |
| Q55437091 | Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of KMT2D and KDM6A in Human Tooth Germs. |
| Q52715745 | Genetic Requirement of talin1 for Proliferation of Cranial Neural Crest Cells during Palate Development. |
| Q35821188 | Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development |
| Q35610421 | Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations |
| Q34070633 | Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators |
| Q34522233 | Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. |
| Q50504852 | Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. |
| Q55497837 | Neurobehavioral features in individuals with Kabuki syndrome. |
| Q38188009 | Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2). |
| Q47820674 | Ocular manifestations in the X-linked intellectual disability syndromes |
| Q29465800 | SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome |
| Q34613797 | Sex, epilepsy, and epigenetics |
| Q39272674 | Spermatogenic failure and the Y chromosome |
| Q36683908 | The necessity for in vivo functional analysis in human medical genetics |
| Q35976439 | The strong association of left-side heart anomalies with Kabuki syndrome |
| Q38437571 | Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes |
| Q33982880 | X chromosome regulation: diverse patterns in development, tissues and disease |
| Q36782721 | X-chromosome inactivation and escape |
| Q38631050 | Zebrafish models of orofacial clefts. |
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