(Q41769198)

9 October 2017

Clinical utility gene card for: Rothmund-Thomson syndrome (English)

1 reference

9 October 2017

3

Alain Verloes

1 reference

9 October 2017

Lidia Larizza

1

1 reference

9 October 2017

Gaia Roversi

series ordinal

2

1 reference

9 October 2017

28 November 2012

1 reference

European Journal of Human Genetics

9 October 2017

1 reference

9 October 2017

21

1 reference

9 October 2017

7

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2012.260

9 October 2017

0 references

cites work

RECQL4 is essential for the transport of p53 to mitochondria in normal human cells in the absence of exogenous stress.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722954

Rothmund-Thomson syndrome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722954

The mutation spectrum in RECQL4 diseases

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722954

Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722954

Multiple cutaneous neoplasms in a patient with Rothmund-Thomson syndrome: case report and published work review

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722954

Clinicopathologic features of osteosarcoma in patients with Rothmund-Thomson syndrome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722954

Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722954

A patient with Rothmund-Thomson syndrome and all features of RAPADILINO.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722954

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722954

Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722954

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722954

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3722954

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

18 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2012.260

Chromosomal instability in fibroblasts and mesenchymal tumors from 2 sibs with Rothmund-Thomson syndrome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23188052

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23188052

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23188052

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2012.260

1 reference

Dimensions Publication ID

9 October 2017

0 references

1 reference

9 October 2017

PubMed publication ID

23188052

1 reference