| review article | Q7318358 |
| scholarly article | Q13442814 |
| P356 | DOI | 10.1002/AJMG.1320310312 |
| P698 | PubMed publication ID | 3067577 |
| P2093 | author name string | Yamada Y | |
| Fujita M | |||
| Niikawa N | |||
| Matsuura N | |||
| Kajii T | |||
| Ishikawa N | |||
| Tonoki H | |||
| Kuroki Y | |||
| Ishikiriyama S | |||
| Umemoto H | |||
| P433 | issue | 3 | |
| P304 | page(s) | 565-589 | |
| P577 | publication date | 1988-11-01 | |
| P1433 | published in | American Journal of Medical Genetics Part A | Q15755121 |
| P1476 | title | Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients | |
| P478 | volume | 31 |
| Q44363827 | A case showing an association between type 1 diabetes mellitus and Kabuki syndrome |
| Q33674547 | A comparison of the clinical and cytogenetic findings in nine patients with a ring (X) cell line and 16 45,X patients |
| Q55332038 | A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report. |
| Q34186982 | A mutation screen in patients with Kabuki syndrome |
| Q37297502 | A novel KMT2D mutation resulting in Kabuki syndrome: A case report |
| Q39353063 | A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome |
| Q80727938 | A novel constellation of cardiac findings for Kabuki syndrome: hypoplastic left heart syndrome and partial anomalous pulmonary venous drainage |
| Q50670904 | A novel mutation in SOX3 polyalanine tract: a case of Kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3. |
| Q50541809 | A sibship with unusual anomalies of the eye and skeleton (Michels' syndrome). |
| Q50748004 | Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome. |
| Q84476080 | Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome |
| Q24338294 | Arrangement and localization of the human GM-CSF receptor alpha chain gene CSF2RA within the X-Y pseudoautosomal region |
| Q33412879 | Autoimmune haematological disorders in two Italian children with Kabuki syndrome |
| Q34463345 | CHARGE syndrome: a review of the immunological aspects |
| Q30829917 | CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes |
| Q89767558 | Cancer-derived UTX TPR mutations G137V and D336G impair interaction with MLL3/4 complexes and affect UTX subcellular localization |
| Q24815429 | Cardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: case report |
| Q52115271 | Central nervous system abnormalities in Kabuki (Niikawa-Kuroki) syndrome. |
| Q24515408 | Coarctation of the aorta in Kabuki syndrome |
| Q37205070 | Concepts for the treatment of adolescent patients with missing permanent teeth |
| Q89105315 | Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency |
| Q34245051 | Congenital heart defects in Kabuki syndrome. |
| Q52517700 | Congenital heart defects in molecularly proven Kabuki syndrome patients. |
| Q89121472 | Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals |
| Q50782264 | Craniofacial and dental features in kabuki syndrome patients. |
| Q51847255 | Craniosynostosis in Kabuki syndrome |
| Q92631061 | Cystic biliary atresia with paucity of bile ducts and gene mutation in KDM6A: a case report |
| Q28240330 | De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome |
| Q52669948 | De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review. |
| Q43084995 | Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome |
| Q28256091 | Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome |
| Q51959913 | Dental findings in Kabuki make-up syndrome: a case report. |
| Q51935949 | Developmental outcome in Kabuki syndrome. |
| Q91585320 | Diagnosis and Management of Hip Dislocation in Patients with Kabuki Syndrome |
| Q41672051 | Ectodermal abnormalities in Kabuki syndrome |
| Q33426259 | Epigenetic control of the immune system: a lesson from Kabuki syndrome |
| Q38969132 | Epigenetic regulation of cognition: A circumscribed review of the field |
| Q41925489 | Epilepsy and polymicrogyria in Kabuki make-up (Niikawa-Kuroki) syndrome. |
| Q40440949 | Evidence for Ritscher‐Schinzel syndrome in Canadian native Indians |
| Q41156740 | Evidence for a Pseudo-autosomal Locus for Schizophrenia Using the Method of Affected Sibling Pairs |
| Q24622470 | Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome |
| Q55437091 | Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of KMT2D and KDM6A in Human Tooth Germs. |
| Q52085231 | Expressive language in children with Kabuki syndrome. |
| Q48892976 | Facial and skeletal malformations, mental retardation, aganglionosis, and neurogenic muscle weakness: a variant of Niikawa-Kuroki syndrome or a new syndrome? |
| Q51946739 | Favorable seizure outcome in Kabuki make-up syndrome associated with epilepsy. |
| Q34464556 | Fetal renal anomalies and genetic syndromes |
| Q51933516 | Further delineation of Kabuki syndrome in 48 well-defined new individuals. |
| Q74108623 | Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome |
| Q90669133 | Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association |
| Q47972594 | Growth Hormone Therapy in Children with Kabuki Syndrome: 1-year Treatment Results |
| Q52192843 | Hardikar syndrome: a new syndrome with cleft lip/palate, pigmentary retinopathy and cholestasis. |
| Q91809782 | High Fat Diet Triggers a Reduction in Body Fat Mass in Female Mice Deficient for Utx demethylase |
| Q90577544 | Hypermobility in individuals with Kabuki syndrome: The effect of growth hormone treatment |
| Q54482735 | Hypoglycemia in Kabuki syndrome. |
| Q51920938 | Hypoplastic left heart syndrome in patients with Kabuki syndrome. |
| Q49199829 | Hypospadias in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome |
| Q34204152 | Hypothalamic pituitary complications in Kabuki syndrome |
| Q38439221 | Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome. |
| Q52684712 | Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review. |
| Q47555415 | Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report |
| Q93073881 | Inhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome |
| Q50496447 | Inner ear abnormalities in Kabuki make-up syndrome: report of three cases. |
| Q51935951 | Intellectual abilities and adaptive behavior of children and adolescents with Kabuki syndrome: a preliminary study. |
| Q35749338 | Isochromosome X mosaicism in a child with Kabuki syndrome phenotype: A rare cytogenetic association |
| Q46617299 | Isolated adrenocorticotropin deficiency in a child with Kabuki syndrome |
| Q28277325 | KDM6A point mutations cause Kabuki syndrome |
| Q92560096 | KMT2C/D COMPASS complex-associated diseases [KCDCOM-ADs]: an emerging class of congenital regulopathies |
| Q34910692 | Kabuki Make-up Syndrome - A Case Report with Electromyographic study |
| Q35803771 | Kabuki Syndrome and Anorectal Malformations: Implications for Diagnosis and Treatment |
| Q41144241 | Kabuki make-up (Niikawa-Kuroki) syndrome: Clinical and radiological observations in two sicilian children |
| Q70232056 | Kabuki make-up syndrome (Niikawa-Kuroki syndrome) with cleft lip and palate |
| Q33496861 | Kabuki make-up syndrome associated with an acquired hypogammaglobulinemia and anti-IgA antibodies. |
| Q58333308 | Kabuki make-up syndrome associated with chronic idiopathic thrombocytopenic purpura |
| Q78247602 | Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41 |
| Q41009480 | Kabuki make-up syndrome with bilateral dislocation of the hip. |
| Q51937089 | Kabuki make-up syndrome. |
| Q38671155 | Kabuki syndrome and its anaesthetic management |
| Q35821188 | Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development |
| Q73740500 | Kabuki syndrome in a Haitian patient |
| Q52199382 | Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2. |
| Q52085233 | Kabuki syndrome is not caused by an 8p duplication: a cytogenetic study in 20 patients. |
| Q37995857 | Kabuki syndrome revisited |
| Q38492545 | Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression |
| Q33676134 | Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13. |
| Q52058585 | Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management. |
| Q35610421 | Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations |
| Q51774744 | Kabuki syndrome: a case report. |
| Q26778099 | Kabuki syndrome: clinical and molecular characteristics |
| Q38256639 | Kabuki syndrome: clinical and molecular diagnosis in the first year of life |
| Q51980991 | Kabuki syndrome: description of dental findings in 8 patients. |
| Q36078059 | Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort |
| Q48565049 | Kabuki syndrome: oral and general features seen in a 2-year-old Chinese boy. |
| Q97540232 | Large Angle Congenital Esotropia in a Child With Kabuki Syndrome: A Case Report |
| Q64039632 | Longitudinal Cognitive and Behavioral Presentation of Adult Female with Kabuki Syndrome |
| Q93069441 | Loss of function of Kmt2d, a gene mutated in Kabuki syndrome, affects heart development in Xenopus laevis |
| Q50687968 | Lower lip pits: van der woude or kabuki syndrome? |
| Q92088085 | Lysine demethylases KDM6A and UTY: The X and Y of histone demethylation |
| Q51737712 | Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome. |
| Q38907092 | Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations |
| Q35121146 | Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients |
| Q34715346 | Neonatal syndromes of polyendocrinopathy |
| Q55497837 | Neurobehavioral features in individuals with Kabuki syndrome. |
| Q59795036 | Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report |
| Q51741808 | Ocular manifestations in Kabuki syndrome: the first report from Saudi Arabia. |
| Q52861892 | On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant KMT2D mutation and 3.2 Mbp de novo 10q22.3q23.1 deletion. |
| Q41364767 | Otolaryngologic manifestations of Kabuki syndrome |
| Q98292753 | Overexpression of serotonin receptor 5b expression rescues neuronal and behavioral deficits in a mouse model of Kabuki syndrome |
| Q34156088 | Partial anomalous left pulmonary artery along with aortic coarctation in an infant with Kabuki syndrome |
| Q52123539 | Patellar dislocation in Kabuki syndrome. |
| Q51960780 | Pathologic aneurysmal dilation of the ascending aorta and dilation of the main pulmonary artery in patients with Kabuki syndrome: valve-sparing aortic root replacement. |
| Q51985916 | Phenotypic spectrum and management issues in Kabuki syndrome. |
| Q90305379 | Precocious chondrocyte differentiation disrupts skeletal growth in Kabuki syndrome mice |
| Q41886088 | Recurrent dislocation of the patella in kabuki make-up syndrome |
| Q36803036 | Report of the First Clinical Case of a Moroccan Kabuki Patient with a Novel MLL2 Mutation. |
| Q38542526 | Review Article: Chiari Type I Malformation with or Without Syringomyelia: Prevalence and Genetics |
| Q24607321 | Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome |
| Q49069321 | Speech patterns in Kabuki make-up syndrome: a case report |
| Q35765021 | Spinal ependymoma in a patient with Kabuki syndrome: a case report |
| Q34695022 | Strabismus and poor stereoacuity associated with Kabuki syndrome |
| Q33385702 | Successful treatment with rituximab of refractory idiopathic thrombocytopenic purpura in a patient with Kabuki syndrome |
| Q42288353 | Surgical treatment of hip dislocation in Kabuki syndrome: use of incomplete periacetabular osteotomy for posterior acetabular wall deficiency |
| Q52086012 | Symptomatic Chiari I malformation in Kabuki syndrome. |
| Q45423315 | Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples. |
| Q35621987 | Syndromic immunodeficiencies: genetic syndromes associated with immune abnormalities |
| Q48088306 | Temporo-occipital spikes: a typical EEG finding in Kabuki syndrome |
| Q28512053 | The C20orf133 gene is disrupted in a patient with Kabuki syndrome |
| Q34531748 | The C20orf133 gene is disrupted in a patient with Kabuki syndrome |
| Q33779153 | The H3K27me3 demethylase UTX in normal development and disease |
| Q40705101 | The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients |
| Q35976439 | The strong association of left-side heart anomalies with Kabuki syndrome |
| Q41926163 | Thirteen cases of Niikawa-Kuroki syndrome: report and review with emphasis on medical complications and preventive management |
| Q33595450 | Three patients with ring (X) chromosomes and a severe phenotype |
| Q74304206 | Unexpected life-threatening complications in Kabuki syndrome |
| Q34310239 | Unmasking Kabuki syndrome |
| Q104557165 | Using Xenopus to analyze neurocristopathies like Kabuki syndrome |
| Q36113695 | Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss |
| Q51984344 | What syndrome is this? Kabuki make-up syndrome. |
| Q50480518 | [Niikawa-Kuroki syndrome. Which characteristics must the HNO doctor consider in its diagnosis]. |
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