CHARGE syndrome: a review of the immunological aspects

Mouse Sertoli Cells Sustain De Novo Generation of Regulatory T Cells by Triggering the Notch Pathway Through Soluble JAGGED11

(2014) Antonio Francesco Campese et al.   BIOLOGY OF REPRODUCTION

CHARGE and Kabuki syndromes: a phenotypic and molecular link

(2014) Yvonne Schulz et al.   HUMAN MOLECULAR GENETICS

Non-Canonical Notch Signaling Drives Activation and Differentiation of Peripheral CD4+ T Cells

(2014) Anushka Dongre et al.   Frontiers in Immunology

CD4+ CD31+ recent thymic emigrants in CHD7 haploinsufficiency (CHARGE syndrome): A case

(2013) Kristian Assing et al.   HUMAN IMMUNOLOGY

Antibody deficiency in adults with 22q11.2 deletion syndrome

(2012) Aron H. Björk et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome

(2012) Jorieke E.H. Bergman et al.   HUMAN MUTATION

Mutation update on the CHD7 gene involved in CHARGE syndrome

(2012) Nicole Janssen et al.   HUMAN MUTATION

Immunoglobulin Deficiencies: The B-Lymphocyte Side of DiGeorge Syndrome

(2012) Kiran Patel et al.   JOURNAL OF PEDIATRICS

The CD46-Jagged1 interaction is critical for human TH1 immunity

(2012) Gaëlle Le Friec et al.   NATURE IMMUNOLOGY

Immunological aspects of 22q11.2 deletion syndrome

(2011) A. R. Gennery   CELLULAR AND MOLECULAR LIFE SCIENCES

Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome

(2011) W. S. Layman et al.   HUMAN MOLECULAR GENETICS

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype

(2011) J. E. H. Bergman et al.   JOURNAL OF MEDICAL GENETICS

Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)

(2011) Donna M. McDonald-McGinn et al.   MEDICINE

Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes

(2011) Erik Engelen et al.   NATURE GENETICS

Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome

(2010) Chikahiko Numakura et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecular and phenotypic aspects ofCHD7mutation in CHARGE syndrome

(2010) Gabriel E. Zentner et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency

(2010) Krystyna H Chrzanowska et al.   CLINICAL GENETICS

Thymus transplantation

(2010) M. Louise Markert et al.   CLINICAL IMMUNOLOGY

The ATP-dependent chromatin remodeling enzyme CHD7 regulates pro-neural gene expression and neurogenesis in the inner ear

(2010) E. A. Hurd et al.   DEVELOPMENT

Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome

(2010) Kelly Lammerts van Bueren et al.   DEVELOPMENTAL BIOLOGY

Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism

(2010) Hirosuke Inoue et al.   EUROPEAN JOURNAL OF PEDIATRICS

Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH

(2010) Marios Kaliakatsos et al.   JOURNAL OF HUMAN GENETICS

T-Cell Immunodeficiency in CHARGE syndrome

(2009) Charu Chopra et al.   ACTA PAEDIATRICA

Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome

(2009) P. L. Poliani et al.   BLOOD

CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome

(2009) J Wincent et al.   CLINICAL GENETICS

CHD7mutations in patients initially diagnosed with Kallmann syndrome - the clinical overlap with CHARGE syndrome

(2009) MCJ Jongmans et al.   CLINICAL GENETICS

CHARGE (Coloboma, Heart Defect, Atresia Choanae, Retarded Growth and Development, Genital Hypoplasia, Ear Anomalies/Deafness) Syndrome and Chromosome 22q11.2 Deletion Syndrome: A Comparison of Immunologic and Nonimmunologic Phenotypic Features

(2009) S. Jyonouchi et al.   PEDIATRICS

Mutations inCHD7in patients with CHARGE syndrome cause TBnatural killer cellsevere combined immune deficiency and may cause Omenn-like syndrome

(2008) A. R. Gennery et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Congenital T Cell Deficiency in a Patient with CHARGE Syndrome

(2008) Julie Hoover-Fong et al.   JOURNAL OF PEDIATRICS

Esophageal atresia and tracheo-esophageal fistula associated with coarctation of the aorta, CHARGE association, and DiGeorge syndrome: a case report and literature review

(2008) Kyeong Deok Lee et al.   PEDIATRIC SURGERY INTERNATIONAL