Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype. (Q34356739)

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English	Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype.	scientific article

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scholarly article

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7 March 2020

Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24518840%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Rothmund-Thomson syndrome

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Elisa A Colombo

1

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7 March 2020

author name string

Laura Fontana

2

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7 March 2020

Gaia Roversi

3

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7 March 2020

Gloria Negri

4

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7 March 2020

Daniele Castiglia

5

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7 March 2020

Mauro Paradisi

6

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7 March 2020

Giovanna Zambruno

7

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7 March 2020

Lidia Larizza

8

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7 March 2020

publication date

12 February 2014

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7 March 2020

European Journal of Human Genetics

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7 March 2020

22

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7 March 2020

11

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7 March 2020

1298-1304

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7 March 2020

https://scigraph.springernature.com/pub.10.1038/ejhg.2014.18

0 references

Clinical utility gene card for: Rothmund-Thomson syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200430

6 July 2018

RAPADILINO RECQL4 mutant protein lacks helicase and ATPase activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200430

6 July 2018

Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200430

6 July 2018

The diagnostic and clinical significance of café-au-lait macules

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200430

6 July 2018

Rothmund-Thomson syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200430

6 July 2018

The mutation spectrum in RECQL4 diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200430

6 July 2018

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200430

6 July 2018

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200430

6 July 2018

Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200430

6 July 2018

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200430

6 July 2018

Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200430

6 July 2018

Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200430

6 July 2018

Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200430

6 July 2018

Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation spectrum disorder

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.18

21 January 2018

RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.18

21 January 2018

Identification of new RECQL4 mutations in Caucasian Rothmund-Thomson patients and analysis of sensitivity to a wide range of genotoxic agents

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.18

21 January 2018

An unusual mutation in RECQ4 gene leading to Rothmund–Thomson syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.18

21 January 2018

Atypical Rothmund-Thomson syndrome in a patient with compound Heterozygous Mutations in RECQL4 Gene and phenotypic features in RECQL4 syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/24518840

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status

1 reference

https://pubmed.ncbi.nlm.nih.gov/24518840

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review

1 reference

https://pubmed.ncbi.nlm.nih.gov/24518840

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chronic tibial nonunion in a Rothmund-Thomson syndrome patient

1 reference

https://pubmed.ncbi.nlm.nih.gov/24518840

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/EJHG.2014.18

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24518840%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24518840%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24518840%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

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