scholarly article | Q13442814 |
P50 | author | Chong Kun Cheon | Q47703410 |
Hyun-Seok Jin | Q56998629 | ||
Yeoun-Joo Lee | Q85315747 | ||
P2093 | author name string | Seon-Yong Jeong | |
Jung Min Ko | |||
Eun Jung Bae | |||
Young Bae Sohn | |||
Il Soo Ha | |||
Ji Sun Song | |||
Bo Kyoung Yang | |||
Jea Woo Moon | |||
P2860 | cites work | Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration | Q21261428 |
MLL2: A new mammalian member of the trx/MLL family of genes | Q22010267 | ||
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome | Q24607321 | ||
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome | Q24622470 | ||
The SET-domain protein superfamily: protein lysine methyltransferases | Q24811144 | ||
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 | ||
KDM6A point mutations cause Kabuki syndrome | Q28277325 | ||
A mutation screen in patients with Kabuki syndrome | Q34186982 | ||
High-throughput sequencing of microdissected chromosomal regions | Q34328777 | ||
The UTX gene escapes X inactivation in mice and humans | Q34460028 | ||
Kabuki syndrome: a review | Q34554794 | ||
Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients | Q34685121 | ||
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients | Q35121146 | ||
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum | Q35837668 | ||
Regulating a master regulator: establishing tissue-specific gene expression in skeletal muscle | Q37780648 | ||
Kabuki syndrome revisited | Q37995857 | ||
A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome | Q39353063 | ||
Exome sequencing: the expert view | Q42576049 | ||
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. | Q50237955 | ||
Patient with Kabuki syndrome and acute leukemia. | Q51946973 | ||
A case of Kabuki make-up syndrome with EBV+Burkitt's lymphoma. | Q52009407 | ||
High incidence of malformation syndromes in a series of 1,073 children with cancer. | Q55040281 | ||
Low-grade fibromyxoid sarcoma: yet another malignancy associated with Kabuki syndrome | Q81427589 | ||
Kabuki syndrome and cancer in two patients | Q84303082 | ||
P433 | issue | 6 | |
P304 | page(s) | 321-325 | |
P577 | publication date | 2014-04-17 | |
P1433 | published in | Journal of Human Genetics | Q6295302 |
P1476 | title | Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome | |
P478 | volume | 59 |
Q93252497 | A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population |
Q52517700 | Congenital heart defects in molecularly proven Kabuki syndrome patients. |
Q52669948 | De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review. |
Q33426259 | Epigenetic control of the immune system: a lesson from Kabuki syndrome |
Q34707985 | FLAGS, frequently mutated genes in public exomes |
Q35610421 | Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations |
Q26778099 | Kabuki syndrome: clinical and molecular characteristics |
Q50504852 | Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. |
Q33601252 | Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment |
Q49965794 | The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance. |
Q36683908 | The necessity for in vivo functional analysis in human medical genetics |
Q35976439 | The strong association of left-side heart anomalies with Kabuki syndrome |
Q47598047 | UTX-guided neural crest function underlies craniofacial features of Kabuki syndrome. |
Q99726393 | UTX/KDM6A suppresses AP-1 and a gliogenesis program during neural differentiation of human pluripotent stem cells |
Q38437571 | Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes |
Q104557165 | Using Xenopus to analyze neurocristopathies like Kabuki syndrome |
Q36113695 | Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss |
Q57691642 | Whole-exome sequencing in Tricho-rhino-phalangeal syndrome (TRPS) type I in a Korean family |
Search more.