Mutation update on the CHD7 gene involved in CHARGE syndrome

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

The MOLGENIS toolkit: rapid prototyping of biosoftware at the push of a button

(2011) Morris A Swertz et al.   BMC BIOINFORMATICS

CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin

(2011) S Pauli et al.   CLINICAL GENETICS

Role of rare cases in deciphering the mechanisms of congenital anomalies: CHARGE syndrome research

(2011) Kenjiro Kosaki   CONGENITAL ANOMALIES

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

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

The international dystrophic epidermolysis bullosa patient registry: An online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations

(2011) Peter C. van den Akker et al.   HUMAN MUTATION

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

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

SOX2 and CHD7 cooperatively regulate human disease genes

(2011) Janusz Puc et al.   NATURE GENETICS

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

(2011) Erik Engelen et al.   NATURE GENETICS

Síndrome de CHARGE y mutación en el gen CHD7

(2011) A. de Arriba Muñoz et al.   NEUROLOGIA

Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland

(2011) Eeva-Maria Laitinen et al.   Orphanet Journal of Rare Diseases

Histology and synchrotron radiation-based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome

(2010) Rudolf Glueckert et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Characterization of a de novo balanced t(4;20)(q33;q12) translocation in a patient with mental retardation

(2010) Kenichiro Yamada 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

CHARGE syndrome as unusual cause of hypogonadism: endocrine and molecular evaluation

(2010) L. Foppiani et al.   ANDROLOGIA

Deletion in chromosome region 22q11 in a child with CHARGE association

(2010) Koen Devriendt et al.   CLINICAL GENETICS

Death in CHARGE syndrome after the neonatal period

(2010) JEH Bergman et al.   CLINICAL GENETICS

Chromodomain proteins in development: lessons from CHARGE syndrome

(2010) WS Layman et al.   CLINICAL GENETICS

Isolation of the left subclavian artery from the pulmonary artery in a patient with CHARGE association

(2010) Anneke P. Bech et al.   CONGENITAL ANOMALIES

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

A conserved function of the chromatin ATPase Kismet in the regulation of hedgehog expression

(2010) Ana Terriente-Félix et al.   DEVELOPMENTAL BIOLOGY

Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome

(2010) Kathrin Wessels et al.   European Journal of Medical Genetics

Terminal 4q deletion and 8q duplication in a patient with CHARGE-like features

(2010) Ola A. Khalifa et al.   European Journal of Medical Genetics

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

Mutations in the CHD7 Gene: The Experience of a Commercial Laboratory

(2010) Cynthia F. Bartels et al.   Genetic Testing and Molecular Biomarkers

Kismet/CHD7 regulates axon morphology, memory and locomotion in a Drosophila model of CHARGE syndrome

(2010) David J. Melicharek et al.   HUMAN MOLECULAR GENETICS

CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome

(2010) T. Batsukh et al.   HUMAN MOLECULAR GENETICS

CHD7 functions in the nucleolus as a positive regulator of ribosomal RNA biogenesis

(2010) Gabriel E. Zentner et al.   HUMAN MOLECULAR GENETICS

Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome

(2010) Angela Michelucci et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

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

Anosmia Predicts Hypogonadotropic Hypogonadism in CHARGE Syndrome

(2010) Jorieke E.H. Bergman et al.   JOURNAL OF PEDIATRICS

CHD7 cooperates with PBAF to control multipotent neural crest formation

(2010) Ruchi Bajpai et al.   NATURE

Delayed Puberty Due to a Novel Mutation in CHD7 Causing CHARGE Syndrome

(2010) A. Dauber et al.   PEDIATRICS

Unilateral Agenesis of the Internal Carotid Artery in CHARGE Syndrome

(2010) Tung-Ming Chang et al.   Pediatrics and Neonatology

CHD7 Targets Active Gene Enhancer Elements to Modulate ES Cell-Specific Gene Expression

(2010) Michael P. Schnetz et al.   PLoS Genetics

Chromatin Remodeling in Development and Disease: Focus on CHD7

(2010) Donna M. Martin   PLoS Genetics

Extending the phenotypic spectrum of CHARGE syndrome: a case with preaxial polydactyly

(2009) Andrew G.L. Douglas et al.   CLINICAL DYSMORPHOLOGY

CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome

(2009) J Wincent et al.   CLINICAL GENETICS

Clinical and genetic analysis of theCHD7gene in Korean patients with CHARGE syndrome

(2009)   CLINICAL GENETICS

Proven germline mosaicism in a father of two children with CHARGE syndrome

(2009) S Pauli 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

Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndrome

(2009) Eduardo Fernández-Rebollo et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Study of smell and reproductive organs in a mouse model for CHARGE syndrome

(2009) Jorieke EH Bergman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype

(2009) Josephine Wincent et al.   European Journal of Medical Genetics

Radial aplasia in CHARGE syndrome: A new association

(2009) E.M.M. Burkitt Wright et al.   European Journal of Medical Genetics

Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns

(2009) M. P. Schnetz et al.   GENOME RESEARCH

Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome

(2009) W.S. Layman et al.   HUMAN MOLECULAR GENETICS

Novel CHD7 and FBN1 mutations in an infant with multiple congenital anamolies

(2009) Chia-Hua Chiu et al.   INDIAN JOURNAL OF PEDIATRICS

Cardiac phenotyping inex vivomurine embryos usingµMRI

(2009) Jon O. Cleary et al.   NMR IN BIOMEDICINE

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 in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

(2008) Hyung-Goo Kim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Expanding the “E” in CHARGE

(2008) Anas M. Alazami et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Abnormal Basiocciput Development in CHARGE Syndrome

(2008) K. Fujita et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

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

A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features

(2008) Pia E. Vuorela et al.   CLINICAL DYSMORPHOLOGY

Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome

(2008) Jorieke E.H. Bergman et al.   European Journal of Medical Genetics

Congenital T Cell Deficiency in a Patient with CHARGE Syndrome

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

New Recognized Ophthalmic Morphologic Anomalies in CHARGE Syndrome Caused by the R2319C Mutation in theCHD7Gene

(2008) Heinrich M. Holak et al.   OPHTHALMIC GENETICS

Drosophila Kismet Regulates Histone H3 Lysine 27 Methylation and Early Elongation by RNA Polymerase II

(2008) Shrividhya Srinivasan et al.   PLoS Genetics

Endocrine and Radiological Studies in Patients with Molecularly Confirmed CHARGE Syndrome

(2007) Yumi Asakura et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM