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English
Complex phenotype associated with 17q21.31 microdeletion.
scientific article published on 21 August 2013
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMCID
3776469
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24167466%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 February 2020
title
Complex phenotype associated with 17q21.31 microdeletion
(English)
1 reference
stated in
Europe PubMed Central
PMCID
3776469
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24167466%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 February 2020
author
Aline Pic-Taylor
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMCID
3776469
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24167466%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 February 2020
Carla Rosenberg
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMCID
3776469
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24167466%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 February 2020
Ana Cristina Krepischi
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMCID
3776469
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24167466%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 February 2020
author name string
H Dornelles-Wawruk
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
3776469
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24167466%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 February 2020
H P N Safatle
series ordinal
5
1 reference
stated in
Europe PubMed Central
PMCID
3776469
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24167466%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 February 2020
I Ferrari
series ordinal
6
1 reference
stated in
Europe PubMed Central
PMCID
3776469
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24167466%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 February 2020
J F Mazzeu
series ordinal
7
1 reference
stated in
Europe PubMed Central
PMCID
3776469
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24167466%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 February 2020
publication date
21 August 2013
1 reference
stated in
Europe PubMed Central
PMCID
3776469
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24167466%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 February 2020
published in
Molecular syndromology
1 reference
stated in
Europe PubMed Central
PMCID
3776469
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24167466%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 February 2020
volume
4
1 reference
stated in
Europe PubMed Central
PMCID
3776469
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24167466%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 February 2020
issue
6
1 reference
stated in
Europe PubMed Central
PMCID
3776469
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24167466%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 February 2020
page(s)
297-301
1 reference
stated in
Europe PubMed Central
PMCID
3776469
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24167466%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 February 2020
cites work
Cutaneous features in 17q21.31 deletion syndrome: a differential diagnosis for cardio-facio-cutaneous 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=3776469
retrieved
26 October 2017
Clinical and molecular delineation of the 17q21.31 microdeletion 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=3776469
retrieved
26 October 2017
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
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=3776469
retrieved
26 October 2017
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
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=3776469
retrieved
26 October 2017
A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient.
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=3776469
retrieved
26 October 2017
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
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=3776469
retrieved
17 August 2018
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion 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=3776469
retrieved
17 August 2018
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation
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=3776469
retrieved
17 August 2018
Phenotypic expansion and further characterisation of the 17q21.31 microdeletion 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=3776469
retrieved
17 August 2018
Concurrent agenesis of the corpus callosum and ureteroceles in siblings
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24167466
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1159/000354120
1 reference
stated in
Europe PubMed Central
PMCID
3776469
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24167466%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 February 2020
PMCID
3776469
1 reference
stated in
Europe PubMed Central
PMCID
3776469
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24167466%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 February 2020
PubMed ID
24167466
1 reference
stated in
Europe PubMed Central
PMCID
3776469
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24167466%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 February 2020
ResearchGate publication ID
258117764
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