Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring

Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature

(2015) Solveig Heide et al.   European Journal of Medical Genetics

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

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

Regulation of histone H3K4 methylation in brain development and disease

(2014) E. Shen et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

MLL2 and KDM6A mutations in patients with Kabuki syndrome

(2013) Noriko Miyake et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

MLL2mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study

(2013) P Makrythanasis et al.   CLINICAL 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

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

Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome

(2012) Manuela Priolo et al.   MOLECULAR GENETICS AND METABOLISM

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

Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature

(2010) Anne Behnecke et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome

(2009) Hideo Kuniba et al.   JOURNAL OF HUMAN GENETICS