Atypical Rothmund-Thomson syndrome in a patient with compound Heterozygous Mutations in RECQL4 Gene and phenotypic features in RECQL4 syndromes (Q59406075)

From Wikidata

Jump to navigation Jump to search

article

Language	Label	Description	Also known as
English	Atypical Rothmund-Thomson syndrome in a patient with compound Heterozygous Mutations in RECQL4 Gene and phenotypic features in RECQL4 syndromes	article

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17372760%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17372760%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Rothmund-Thomson syndrome

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

Yves Sznajer

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17372760%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Gaia Roversi

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17372760%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Chantal Dangoisse

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17372760%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Michèle Scaillon

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17372760%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

France Ziereisen

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17372760%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Sylvie Tenoutasse

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17372760%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Marjo Kestilä

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17372760%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Lidia Larizza

9

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17372760%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

H Annika Siitonen

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17372760%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

publication date

20 March 2007

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17372760%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

European Journal of Pediatrics

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17372760%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

167

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17372760%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17372760%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

175-181

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17372760%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Rothmund-Thomson syndrome in siblings: evidence for acquired in vivo mosaicism

1 reference

https://pubmed.ncbi.nlm.nih.gov/17372760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17372760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/17372760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping

1 reference

https://pubmed.ncbi.nlm.nih.gov/17372760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

RAPADILINO syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17372760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

RAPADILINO syndrome: a multiple malformation syndrome with radial and patellar aplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/17372760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rothmund's syndrome; Thomson's syndrome; congenital poikiloderma with or without juvenile cataracts

1 reference

https://pubmed.ncbi.nlm.nih.gov/17372760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Radial aplasia, poikiloderma and auto-immune enterocolitis--new syndrome or severe form of Rothmund-Thomson syndrome?

1 reference

https://pubmed.ncbi.nlm.nih.gov/17372760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations

1 reference

https://pubmed.ncbi.nlm.nih.gov/17372760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA helicase deficiencies associated with cancer predisposition and premature ageing disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/17372760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17372760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variable presentation of Rothmund-Thomson syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17372760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17372760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical characterization of the RECQ4 protein, mutated in Rothmund-Thomson syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17372760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Premature aging in RecQ helicase-deficient human syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/17372760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rothmund-Thomson syndrome: review of the world literature

1 reference

https://pubmed.ncbi.nlm.nih.gov/17372760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17372760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17372760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17372760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapadilino syndrome--a non-Finnish case

1 reference

https://pubmed.ncbi.nlm.nih.gov/17372760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The human Rothmund-Thomson syndrome gene product, RECQL4, localizes to distinct nuclear foci that coincide with proteins involved in the maintenance of genome stability

1 reference

https://pubmed.ncbi.nlm.nih.gov/17372760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Overlap between Baller-Gerold and Rothmund-Thomson syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17372760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rothmund‐Thomson Syndrome in Fraternal Twins

1 reference

https://pubmed.ncbi.nlm.nih.gov/17372760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17372760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17372760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17372760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Successful umbilical cord blood stem cell transplantation in a patient with Rothmund-Thomson syndrome and combined immunodeficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/17372760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes

1 reference

https://pubmed.ncbi.nlm.nih.gov/17372760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Baller-Gerold syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17372760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/17372760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00431-007-0447-6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17372760%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17372760%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q59406075&oldid=2215440002"