Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations
Published 2015 View Full Article
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Title
Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations
Authors
Keywords
Kabuki syndrome, <em class=EmphasisTypeItalic >KMT2D</em>, Chinese, Series, Dandy-Walker syndrome, Spinal bifida
Journal
BMC Medical Genetics
Volume 16, Issue 1, Pages -
Publisher
Springer Nature
Online
2015-04-21
DOI
10.1186/s12881-015-0171-4
References
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Related references
Note: Only part of the references are listed.- A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation inKDM6A
- (2014) Damien Lederer et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Kabuki syndrome: clinical and molecular diagnosis in the first year of life
- (2014) Maria Lisa Dentici et al. ARCHIVES OF DISEASE IN CHILDHOOD
- NovelKDM6A(UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)
- (2014) S. Banka et al. CLINICAL GENETICS
- Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients
- (2014) Lucia Micale et al. HUMAN MUTATION
- Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome
- (2014) Chong Kun Cheon et al. JOURNAL OF HUMAN GENETICS
- MLL2 and KDM6A mutations in patients with Kabuki syndrome
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- MLL2mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study
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- Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate
- (2013) Amelia M. Lindgren et al. HUMAN GENETICS
- Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome
- (2013) Jean-Benoît Courcet et al. JOURNAL OF PEDIATRICS
- Analysis ofMLL2gene in the first Brazilian family with Kabuki syndrome
- (2012) Nancy Mizue Kokitsu-Nakata et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases
- (2012) N Bögershausen et al. CLINICAL GENETICS
- Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome
- (2011) Damien Lederer et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
- (2011) Mark C. Hannibal et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
- (2011) Siddharth Banka et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- A mutation screen in patients with Kabuki syndrome
- (2011) Yun Li et al. HUMAN GENETICS
- Cleft Hand in Kabuki Make-Up Syndrome: Case Report
- (2011) Jung Kyu Huh et al. JOURNAL OF HAND SURGERY-AMERICAN VOLUME
- Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients
- (2011) Lucia Micale et al. Orphanet Journal of Rare Diseases
- A Japanese patient with Kabuki syndrome and unilateral perisylvian cortical dysplasia
- (2010) Seiichiro Yoshioka et al. BRAIN & DEVELOPMENT
- MLL2 mutation spectrum in 45 patients with Kabuki syndrome
- (2010) Aimée D. C. Paulussen et al. HUMAN MUTATION
- Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
- (2010) Sarah B Ng et al. NATURE GENETICS
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
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