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Mutations in FEZF1 cause Kallmann syndrome
scientific article
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scholarly article
1 reference
stated in
Europe PubMed Central
PMCID
4157145
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25192046%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
title
Mutations in FEZF1 cause Kallmann syndrome
(English)
1 reference
stated in
Europe PubMed Central
PMCID
4157145
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25192046%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
main subject
Kallmann syndrome
1 reference
based on heuristic
inferred from title
author
Leman Damla Kotan
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
4157145
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25192046%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
B. Ian Hutchins
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMCID
4157145
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25192046%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
Paul J Cheng
series ordinal
6
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stated in
Europe PubMed Central
PMCID
4157145
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25192046%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
Fatih Gürbüz
series ordinal
8
1 reference
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Europe PubMed Central
PMCID
4157145
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25192046%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
Eda Mengen
series ordinal
10
1 reference
stated in
Europe PubMed Central
PMCID
4157145
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25192046%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
Bilgin Yüksel
series ordinal
11
1 reference
stated in
Europe PubMed Central
PMCID
4157145
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25192046%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
Susan Wray
series ordinal
12
1 reference
stated in
Europe PubMed Central
PMCID
4157145
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25192046%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
A Kemal Topaloglu
series ordinal
13
object named as
A Kemal Topaloglu
1 reference
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Europe PubMed Central
retrieved
16 February 2020
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25192046%20AND%20SRC:MED&resulttype=core&format=json
PMCID
4157145
author name string
Yusuf Ozkan
series ordinal
3
1 reference
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Europe PubMed Central
PMCID
4157145
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25192046%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
Fatma Demirel
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMCID
4157145
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25192046%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
Hudson Stoner
series ordinal
5
1 reference
stated in
Europe PubMed Central
PMCID
4157145
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25192046%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
Ihsan Esen
series ordinal
7
1 reference
stated in
Europe PubMed Central
PMCID
4157145
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25192046%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
Y Kenan Bicakci
series ordinal
9
1 reference
stated in
Europe PubMed Central
PMCID
4157145
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25192046%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
language of work or name
English
0 references
publication date
1 September 2014
1 reference
stated in
Europe PubMed Central
PMCID
4157145
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25192046%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
published in
American Journal of Human Genetics
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stated in
Europe PubMed Central
PMCID
4157145
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25192046%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
volume
95
1 reference
stated in
Europe PubMed Central
PMCID
4157145
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25192046%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
issue
3
1 reference
stated in
Europe PubMed Central
PMCID
4157145
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25192046%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
page(s)
326-331
1 reference
stated in
Europe PubMed Central
PMCID
4157145
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25192046%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
cites work
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism
1 reference
stated in
PubMed Central
reference URL
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5 July 2018
Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145
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5 July 2018
SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145
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5 July 2018
SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development
1 reference
stated in
PubMed Central
reference URL
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5 July 2018
Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145
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5 July 2018
Fezf1 and Fezf2 are required for olfactory development and sensory neuron identity
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145
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5 July 2018
CAMDI, a novel disrupted in schizophrenia 1 (DISC1)-binding protein, is required for radial migration
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145
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5 July 2018
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145
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5 July 2018
Molecular causes of hypogonadotropic hypogonadism.
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PubMed Central
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5 July 2018
Zinc finger genes Fezf1 and Fezf2 control neuronal differentiation by repressing Hes5 expression in the forebrain
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145
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5 July 2018
Human genetic disorders of axon guidance
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PubMed Central
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5 July 2018
Fezf1 is required for penetration of the basal lamina by olfactory axons to promote olfactory development
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145
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5 July 2018
Formation and patterning of the forebrain and olfactory system by zinc-finger genes Fezf1 and Fezf2.
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PubMed Central
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5 July 2018
The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al.
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PubMed Central
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5 July 2018
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145
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5 July 2018
Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice
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5 July 2018
From nose to fertility: the long migratory journey of gonadotropin-releasing hormone neurons.
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5 July 2018
Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145
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5 July 2018
The nonsense-mediated decay RNA surveillance pathway
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145
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5 July 2018
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145
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5 July 2018
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145
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5 July 2018
Zinc-finger gene Fez in the olfactory sensory neurons regulates development of the olfactory bulb non-cell-autonomously
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145
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5 July 2018
A window of opportunity: the diagnosis of gonadotropin deficiency in the male infant
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145
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5 July 2018
Zinc finger proteins: getting a grip on RNA
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145
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5 July 2018
Development of the University of Pennsylvania Smell Identification Test: a standardized microencapsulated test of olfactory function.
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PubMed Central
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5 July 2018
Axon guidance and the patterning of neuronal projections in vertebrates
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145
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5 July 2018
Evidence that cells expressing luteinizing hormone-releasing hormone mRNA in the mouse are derived from progenitor cells in the olfactory placode
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145
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5 July 2018
Origin of luteinizing hormone-releasing hormone neurons
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145
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5 July 2018
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145
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5 July 2018
The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145
retrieved
5 July 2018
Identification of an olfactory signal molecule that activates the central regulator of reproduction in goats.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145
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28 October 2018
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145
retrieved
28 October 2018
Emx1 and Emx2 functions in development of dorsal telencephalon.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4157145
retrieved
28 October 2018
Identifiers
DOI
10.1016/J.AJHG.2014.08.006
1 reference
stated in
Europe PubMed Central
PMCID
4157145
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25192046%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
PMCID
4157145
1 reference
stated in
Europe PubMed Central
PMCID
4157145
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25192046%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
PubMed ID
25192046
1 reference
stated in
Europe PubMed Central
PMCID
4157145
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25192046%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 February 2020
ResearchGate publication ID
265391192
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