MLL2 and KDM6A mutations in patients with Kabuki syndrome

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