(Q34328503)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19809474%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19809474%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19809474%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

4

Karen P Steel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19809474%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

author name string

Erika A Bosman

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19809474%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Conny M A van Ravenswaaij-Arts

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19809474%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

publication date

7 October 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19809474%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

9 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19809474%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19809474%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19809474%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

page(s)

171-177

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19809474%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ejhg.2009.158

9 February 2020

exact match

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987182

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987182

The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987182

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987182

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987182

The combined role of the main olfactory and vomeronasal systems in social communication in mammals

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987182

CHD proteins: a diverse family with strong ties

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987182

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987182

The Chd family of chromatin remodelers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987182

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987182

Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987182

Kallmann's syndrome, a neuronal migration defect

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987182

The vomeronasal system in mice: from the nose to the hypothalamus- and back!

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987182

Multiple mutations in mouse Chd7 provide models for CHARGE syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987182

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987182

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987182

Relationships between quantitative and reproductive fitness traits in animals

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987182

Targeted expression of a dominant-negative fibroblast growth factor (FGF) receptor in gonadotropin-releasing hormone (GnRH) neurons reduces FGF responsiveness and the size of GnRH neuronal population

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987182

Characterization of a new mouse mutant, flouncer, with a balance defect and inner ear malformation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987182

Emerging views on the distinct but related roles of the main and accessory olfactory systems in responsiveness to chemosensory signals in mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987182

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987182

Smad5 knockout mice die at mid-gestation due to multiple embryonic and extraembryonic defects.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987182

Mice deficient in G(olf) are anosmic

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987182

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987182

Cyclic guanosine monophosphate: elevation in degenerating photoreceptor cells of the C3H mouse retina

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987182

Counterstaining of Nauta-Gygax impregnated sections with cresyl violet.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987182

The major histocompatibility complex and the chemosensory recognition of individuality in rats.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987182

Olfactory evaluation in children: application to the CHARGE syndrome.

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.158

CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.158

Two new mouse mutants with vestibular defects that map to the highly mutable locus on chromosome 4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.158

Marked differences in olfactory sensitivity and apparent speed of forebrain neuroblast migration in three inbred strains of mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.158

Gonadotropin-releasing hormone neuron requirements for puberty, ovulation, and fertility.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.158

Effects of central and peripheral anosmia on reproduction of female mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.158

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

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19809474

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2009.158

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19809474%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19809474%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference