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Title
MLL2
and KDM6A
mutations in patients with Kabuki syndrome
Authors
Keywords
-
Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 161, Issue 9, Pages 2234-2243
Publisher
Wiley
Online
2013-08-03
DOI
10.1002/ajmg.a.36072
References
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Related references
Note: Only part of the references are listed.- MLL2mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study
- (2013) P Makrythanasis et al. CLINICAL GENETICS
- Aberrant patterns of H3K4 and H3K27 histone lysine methylation occur across subgroups in medulloblastoma
- (2012) Adrian M. Dubuc et al. ACTA NEUROPATHOLOGICA
- Congenital corneal staphyloma as a complication of Kabuki syndrome
- (2012) Ryuma Tanaka et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Analysis ofMLL2gene in the first Brazilian family with Kabuki syndrome
- (2012) Nancy Mizue Kokitsu-Nakata et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- MLL2mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome
- (2012) S Banka et al. CLINICAL GENETICS
- Unmasking Kabuki syndrome
- (2012) N Bögershausen et al. CLINICAL GENETICS
- KDM6A Point Mutations Cause Kabuki Syndrome
- (2012) Noriko Miyake et al. HUMAN MUTATION
- The diagnostic utility of exome sequencing in Joubert syndrome and related disorders
- (2012) Yoshinori Tsurusaki et al. JOURNAL OF HUMAN GENETICS
- Hypothalamic pituitary complications in Kabuki syndrome
- (2012) Naoko Ito et al. Pituitary
- UTX and UTY Demonstrate Histone Demethylase-Independent Function in Mouse Embryonic Development
- (2012) Karl B. Shpargel et al. PLoS 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
- Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients
- (2011) Lucia Micale et al. Orphanet Journal of Rare Diseases
- 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
- MutationTaster evaluates disease-causing potential of sequence alterations
- (2010) Jana Marie Schwarz et al. NATURE METHODS
- Successful treatment with rituximab of refractory idiopathic thrombocytopenic purpura in a patient with Kabuki syndrome
- (2009) Yuka Torii et al. INTERNATIONAL JOURNAL OF HEMATOLOGY
- Sex-Specific Differences in Expression of Histone Demethylases Utx and Uty in Mouse Brain and Neurons
- (2008) J. Xu et al. JOURNAL OF NEUROSCIENCE
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