(Q73457609)

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

scientific article published on 01 January 2000

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scholarly article

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Europe PubMed Central

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4 November 2019

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

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10678659%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

Werner syndrome

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based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Rothmund-Thomson syndrome

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based on heuristic

inferred from title

Noralane Lindor

1

object named as

N M Lindor

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4 November 2019

author name string

Y Furuichi

2

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4 November 2019

S Kitao

3

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4 November 2019

A Shimamoto

4

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4 November 2019

C Arndt

5

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4 November 2019

S Jalal

6

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4 November 2019

publication date

1 January 2000

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4 November 2019

American Journal of Medical Genetics Part A

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4 November 2019

90

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4 November 2019

3

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4 November 2019

223-228

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4 November 2019

Case report 529: Osteosarcoma of calcaneus with Rothmund-Thompson syndrome (RTS).

1 reference

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21 January 2018

Rothmund-Thomson syndrome and malignant disease

1 reference

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21 January 2018

Clonal lines of aneuploid cells in Rothmund-Thomson syndrome

1 reference

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21 January 2018

Rothmund-Thomson syndrome and osteogenic sarcoma

1 reference

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21 January 2018

Unraveling the role of helicases in transcription

1 reference

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21 January 2018

DNA helicases in inherited human disorders

1 reference

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21 January 2018

The Bloom's syndrome gene product is homologous to RecQ helicases

1 reference

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21 January 2018

The yeast type I topoisomerase Top3 interacts with Sgs1, a DNA helicase homolog: a potential eukaryotic reverse gyrase

1 reference

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21 January 2018

Helicases: amino acid sequence comparisons and structure-function relationships

1 reference

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21 January 2018

Genetic linkage of Werner's syndrome to five markers on chromosome 8

1 reference

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21 January 2018

RecQ DNA helicase is a suppressor of illegitimate recombination in Escherichia coli

1 reference

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21 January 2018

Rothmund-Thomson syndrome and osteosarcoma

1 reference

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21 January 2018

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

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Osteosarcoma in a boy with Rothmund-Thomson syndrome

1 reference

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21 January 2018

DNA double-strand break repair: genetic determinants of flanking crossing-over

1 reference

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21 January 2018

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

1 reference

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21 January 2018

DNA helicases: enzymes with essential roles in all aspects of DNA metabolism

1 reference

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21 January 2018

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

1 reference

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21 January 2018

The recQ gene of Escherichia coli K12: molecular cloning and isolation of insertion mutants

1 reference

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21 January 2018

Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome

1 reference

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21 January 2018

A case of Rothmund-Thomson syndrome with reduced DNA repair capacity

1 reference

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21 January 2018

Enhanced radiosensitivity and defective DNA repair in cultured fibroblasts derived from Rothmund Thomson syndrome patients

1 reference

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21 January 2018

Non-dermatological complications and genetic aspects of the Rothmund-Thomson syndrome

1 reference

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21 January 2018

Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.

1 reference

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21 January 2018

Osteogenic sarcoma and Rothmund Thomson syndrome

1 reference

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21 January 2018

Sgs1: a eukaryotic homolog of E. coli RecQ that interacts with topoisomerase II in vivo and is required for faithful chromosome segregation

1 reference

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21 January 2018

DNA helicases: new breeds of translocating motors and molecular pumps

1 reference

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21 January 2018

Rothmund-Thomson syndrome associated with trisomy 8 mosaicism

1 reference

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21 January 2018

Positional cloning of the Werner's syndrome gene

1 reference

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21 January 2018

Identifiers

10.1002/(SICI)1096-8628(20000131)90:3<223::AID-AJMG7>3.0.CO;2-Z

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10678659%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10678659%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

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