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Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature
scientific article
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
3491287
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23162289%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 February 2020
title
Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
3491287
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23162289%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 February 2020
main subject
Rubinstein-Taybi syndrome
1 reference
based on heuristic
inferred from title
author
Inusha Panigrahi
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
3491287
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23162289%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 February 2020
author name string
Suresh Kumar
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
3491287
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23162289%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 February 2020
Renu Suthar
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
3491287
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23162289%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 February 2020
Ram K Marwaha
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
3491287
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23162289%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 February 2020
publication date
1 May 2012
1 reference
stated in
Europe PubMed Central
PMC publication ID
3491287
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23162289%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 February 2020
published in
Indian Journal of Human Genetics
1 reference
stated in
Europe PubMed Central
PMC publication ID
3491287
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23162289%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 February 2020
volume
18
1 reference
stated in
Europe PubMed Central
PMC publication ID
3491287
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23162289%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 February 2020
issue
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
3491287
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23162289%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 February 2020
page(s)
161-166
1 reference
stated in
Europe PubMed Central
PMC publication ID
3491287
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23162289%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 February 2020
cites work
Thyroid hypoplasia as a cause of congenital hypothyroidism in monozygotic twins concordant for Rubinstein-Taybi 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=3491287
retrieved
20 June 2018
A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation
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=3491287
retrieved
20 June 2018
Rubinstein-Taybi syndrome (CREBBP, EP300).
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=3491287
retrieved
20 June 2018
Psychiatric profile in rubinstein-taybi syndrome. A review and case report.
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=3491287
retrieved
20 June 2018
Rubinstein-Taybi syndrome: clinical and molecular overview
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=3491287
retrieved
20 June 2018
Broad thumbs and toes and facial abnormalities. A possible mental retardation 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=3491287
retrieved
20 June 2018
Arched, clubbed thumb in strong abduction-extension & other concomitant symptoms
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=3491287
retrieved
20 June 2018
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
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=3491287
retrieved
20 June 2018
Tumors in Rubinstein-Taybi 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=3491287
retrieved
20 June 2018
Etiology and recurrence risk in Rubinstein-Taybi 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=3491287
retrieved
20 June 2018
Growth in the Rubinstein-Taybi 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=3491287
retrieved
20 June 2018
Oral aspects of Rubinstein-Taybi 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=3491287
retrieved
20 June 2018
Psychological and speech studies in Rubinstein-Taybi 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=3491287
retrieved
20 June 2018
Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi 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=3491287
retrieved
26 November 2018
The phenotype of Floating-Harbor syndrome in 10 patients.
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=3491287
retrieved
26 November 2018
Rubinstein-taybi syndrome: a female patient with a de novo reciprocal translocation t(2; 16)(q36.3; p13.3) and dysgranulopoiesis
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=3491287
retrieved
26 November 2018
Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG 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=3491287
retrieved
26 November 2018
Rubinstein-Taybi 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=3491287
retrieved
26 November 2018
Rubinstein‐Taybi syndrome medical guidelines
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=3491287
retrieved
26 November 2018
Spectrum of CREBBP gene dosage anomalies in Rubinstein–Taybi Syndrome patients
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23162289
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
[The Rubinstein-Taybi syndrome or a broad thumb-hallux syndrome]
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23162289
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.4103/0971-6866.100751
1 reference
stated in
Europe PubMed Central
PMC publication ID
3491287
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23162289%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 February 2020
PMC publication ID
3491287
1 reference
stated in
Europe PubMed Central
PMC publication ID
3491287
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23162289%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 February 2020
PubMed publication ID
23162289
1 reference
stated in
Europe PubMed Central
PMC publication ID
3491287
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23162289%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 February 2020
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