Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

Atypical Autoimmune Hematological Disorders in a Patient With Kabuki Syndrome

(2018) Ara C. Almécija et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

VarSome: the human genomic variant search engine

(2018) Christos Kopanos et al.   BIOINFORMATICS

Advances in the Care of Primary Immunodeficiencies (PIDs): from Birth to Adulthood

(2017) Nizar Mahlaoui et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Identification and Characterization of a Nationwide Danish Adult Common Variable Immunodeficiency Cohort

(2017) L. Westh et al.   SCANDINAVIAN JOURNAL OF IMMUNOLOGY

Mutation Update for Kabuki Syndrome GenesKMT2DandKDM6Aand Further Delineation of X-Linked Kabuki Syndrome Subtype 2

(2016) Nina Bögershausen et al.   HUMAN MUTATION

Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome

(2016) Andrew W. Lindsley et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Childhood immune thrombocytopenia: A nationwide cohort study on condition management and outcomes

(2016) Lamiae Grimaldi-Bensouda et al.   PEDIATRIC BLOOD & CANCER

Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis

(2016) Fatih Gürbüz et al.   Journal of Clinical Research in Pediatric Endocrinology

The Prevalence of Vitiligo: A Meta-Analysis

(2016) Yuhui Zhang et al.   PLoS One

Epigenetic control of the immune system: a lesson from Kabuki syndrome

(2015) Stefano Stagi et al.   IMMUNOLOGIC RESEARCH

Epidemiology of incident immune thrombocytopenia: a nationwide population-based study in France

(2014) G. Moulis et al.   BLOOD

Immunologic assessment and KMT2D mutation detection in Kabuki syndrome

(2014) J.-L. Lin et al.   CLINICAL GENETICS

NovelKDM6A(UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)

(2014) S. Banka et al.   CLINICAL GENETICS

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

The MLL3/MLL4 Branches of the COMPASS Family Function as Major Histone H3K4 Monomethylases at Enhancers

(2013) D. Hu et al.   MOLECULAR AND CELLULAR BIOLOGY

Membranoproliferative glomerulonephritis Type 3 associated with Kabuki syndrome

(2012) Naoto Nishizaki et al.   CLINICAL NEPHROLOGY

A review of the worldwide prevalence of vitiligo in children/adolescents and adults

(2012) Christian Krüger et al.   INTERNATIONAL JOURNAL OF DERMATOLOGY

Pathogenesis of autoimmunity in common variable immunodeficiency

(2012) Klaus Warnatz et al.   Frontiers in Immunology

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

The super elongation complex (SEC) and MLL in development and disease

(2011) E. Smith et al.   GENES & DEVELOPMENT

New insights into childhood autoimmune hemolytic anemia: a French national observational study of 265 children

(2011) N. Aladjidi et al.   HAEMATOLOGICA

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

Kabuki Syndrome and Crohn Disease in a Child with Familial Hypocalciuric Hypercalcemia

(2010) Josephine Ho et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

Histone H2A and H2B Are Monoubiquitinated at AID-Targeted Loci

(2010) Glen M. Borchert et al.   PLoS One

Global Mapping of H3K4me3 and H3K27me3 Reveals Specificity and Plasticity in Lineage Fate Determination of Differentiating CD4+ T Cells

(2009) Gang Wei et al.   IMMUNITY

Recent insights in the epidemiology of autoimmune diseases: Improved prevalence estimates and understanding of clustering of diseases

(2009) Glinda S. Cooper et al.   JOURNAL OF AUTOIMMUNITY

Standardization of terminology, definitions and outcome criteria in immune thrombocytopenic purpura of adults and children: report from an international working group

(2008) F. Rodeghiero et al.   BLOOD