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Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.
scientific article published on 16 September 2013
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Europe PubMed Central
PMC publication ID
3880228
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038889%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 February 2020
title
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
3880228
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038889%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 February 2020
main subject
genotype-phenotype correlation
1 reference
based on heuristic
inferred from title
phenotype
1 reference
based on heuristic
inferred from title
author
Valentina Quarantotti
series ordinal
3
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Europe PubMed Central
PMC publication ID
3880228
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038889%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 February 2020
Antonio Musio
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5
1 reference
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Europe PubMed Central
PMC publication ID
3880228
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038889%20AND%20SRC:MED&resulttype=core&format=json
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21 February 2020
author name string
Linda Mannini
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1
1 reference
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Europe PubMed Central
PMC publication ID
3880228
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038889%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 February 2020
Francesco Cucco
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2
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Europe PubMed Central
PMC publication ID
3880228
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038889%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 February 2020
Ian D Krantz
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
3880228
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038889%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 February 2020
publication date
16 September 2013
1 reference
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Europe PubMed Central
PMC publication ID
3880228
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038889%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 February 2020
published in
Human Mutation
1 reference
stated in
Europe PubMed Central
PMC publication ID
3880228
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038889%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 February 2020
volume
34
1 reference
stated in
Europe PubMed Central
PMC publication ID
3880228
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038889%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 February 2020
issue
12
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stated in
Europe PubMed Central
PMC publication ID
3880228
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038889%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 February 2020
page(s)
1589-1596
1 reference
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Europe PubMed Central
PMC publication ID
3880228
reference URL
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retrieved
21 February 2020
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Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome
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Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome
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Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation
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Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients
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NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome
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Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene
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High rate of mosaicism in individuals with Cornelia de Lange syndrome.
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2 September 2018
Germline mosaicism in Cornelia de Lange syndrome.
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2 September 2018
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2 September 2018
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2 September 2018
Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome.
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2 September 2018
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2 September 2018
Recruitment of Xenopus Scc2 and cohesin to chromatin requires the pre-replication complex
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2 September 2018
Fetus with interstitial del(5)(p13.1p14.2) diagnosed postnatally with Cornelia de Lange syndrome
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reference URL
https://pubmed.ncbi.nlm.nih.gov/24038889
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12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24038889
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1002/HUMU.22430
1 reference
stated in
Europe PubMed Central
PMC publication ID
3880228
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038889%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 February 2020
PMC publication ID
3880228
1 reference
stated in
Europe PubMed Central
PMC publication ID
3880228
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038889%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 February 2020
PubMed publication ID
24038889
1 reference
stated in
Europe PubMed Central
PMC publication ID
3880228
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038889%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 February 2020
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