(Q28263190)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22461308%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

title

Mutation update on the CHD7 gene involved in CHARGE syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22461308%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22461308%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Morris A Swertz

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22461308%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Robert Hofstra

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22461308%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

9

Lies H Hoefsloot

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22461308%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

author name string

Nicole Janssen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22461308%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Lisbeth Tranebjaerg

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22461308%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Marianne Lodahl

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22461308%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Jeroen Schoots

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22461308%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Conny M A van Ravenswaaij-Arts

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22461308%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

language of work or name

English

0 references

publication date

16 April 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22461308%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22461308%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

volume

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22461308%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22461308%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

page(s)

1149-1160

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22461308%20AND%20SRC:MED&resulttype=core&format=json

Temporal bone CT findings in the CHARGE association.

27 January 2020

cites work

1 reference

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Expanding the "E" in CHARGE.

21 January 2018

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Disease-causing mutations in the human genome

21 January 2018

1 reference

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Embryonic expression profile of chicken CHD7, the ortholog of the causative gene for CHARGE syndrome.

21 January 2018

1 reference

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Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.

21 January 2018

1 reference

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Interstitial deletion 8q11.2-q13 with congenital anomalies of CHARGE association.

21 January 2018

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CHD7 cooperates with PBAF to control multipotent neural crest formation

21 January 2018

1 reference

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Mutations in the CHD7 gene: the experience of a commercial laboratory

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

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

21 January 2018

1 reference

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Death in CHARGE syndrome after the neonatal period.

21 January 2018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome.

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

CHARGE association: an update and review for the primary pediatrician

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Multiple mutations in mouse Chd7 provide models for CHARGE syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Cardiac phenotyping in ex vivo murine embryos using microMRI.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

CHARGE association-related ocular pathology in a newborn with partial trisomy 19q and partial monosomy 21q, from a maternal translocation (19;21) (q13.1;q22.3).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Features of DiGeorge syndrome and CHARGE association in five patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

CHD7 gene and non-syndromic cleft lip and palate.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

CHD proteins: a diverse family with strong ties

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

New recognized ophthalmic morphologic anomalies in CHARGE syndrome caused by the R2319C mutation in the CHD7 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Congenital T cell deficiency in a patient with CHARGE syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Labyrinthine malformation in the 22q11.2 deletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Balanced t(6;8)(6p8p;6q8q) and the CHARGE association

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

SEMA3E mutation in a patient with CHARGE syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Chromodomain proteins in development: lessons from CHARGE syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Clinical and genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

CHARGE association in a child with de Novo chromosomal aberration 46, X,der(X)t(X;2)(p22.1;q33) detected by spectral karyotyping

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Kallmann syndrome in two sisters with other developmental anomalies also affecting their father.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

The Chd family of chromatin remodelers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Exclusion of PITX2 mutations as a major cause of CHARGE association.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Chromatin remodeling in development and disease: focus on CHD7.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Kallmann syndrome phenotype in a female patient with CHARGE syndrome and CHD7 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

A CGH study of 27 patients with CHARGE association

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

CHARGE syndrome: an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

CHD7 targets active gene enhancer elements to modulate ES cell-specific gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Pathologic features of the CHARGE association: support for involvement of the neural crest.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Drosophila Kismet regulates histone H3 lysine 27 methylation and early elongation by RNA polymerase II

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Beyond standardization: dynamic software infrastructures for systems biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Mechanisms of disease: Insights into X-linked and autosomal-dominant Kallmann syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Speculations on the pathogenesis of CHARGE syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Radial aplasia in CHARGE syndrome: a new association

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Immunological abnormalities in CHARGE syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Juvenile Muscular Atrophy of a Unilateral Upper Extremity (Hirayama Disease) in a Patient with CHARGE Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

CHARGE association in a child with de novo inverted duplication (14)(q22 → q24.3)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

A histone lysine methyltransferase activated by non-canonical Wnt signalling suppresses PPAR-gamma transactivation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

Defects in vestibular sensory epithelia and innervation in mice with loss ofChd7 function: Implications for human CHARGE syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

7 January 2021

Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

7 January 2021

Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

7 January 2021

Unilateral agenesis of the internal carotid artery in CHARGE syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

7 January 2021

Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

7 January 2021

CHARGE syndrome and CHD7 gene mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

7 January 2021

Scoliosis in CHARGE: a prospective survey and two case reports

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

7 January 2021

Abnormal basiocciput development in CHARGE syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

7 January 2021

CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

7 January 2021

SOX2 and CHD7 cooperatively regulate human disease genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

7 January 2021

Complete DiGeorge syndrome associated with CHD7 mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

7 January 2021

An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

7 January 2021

Updated diagnostic criteria for CHARGE syndrome: a proposal

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

7 January 2021

A patient with interstitial deletion of the short arm of chromosome 3 (pter-->p21.2::p12-->qter) and a CHARGE-like phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22086

7 January 2021

Identifiers

DOI

10.1002/HUMU.22086

2 references

Consolidated OpenCitations Corpus – April 2017

2425201

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22461308%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

2425201

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

2425201

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22461308%20AND%20SRC:MED&resulttype=core&format=json