The mutation spectrum in RECQL4 diseases (Q34325593)

1 August 2017

title

The mutation spectrum in RECQL4 diseases (English)

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1 August 2017

9

Raoul Hennekam

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Katariina Hannula-Jouppi

8

Katariina Hannula-Jouppi

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1 August 2017

Marita Lipsanen-Nyman

12

Marita Lipsanen-Nyman

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Helena Kääriäinen

20

Helena Kääriäinen

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Valérie Cormier-Daire

Valerie Cormier-Daire

6

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Alain Verloes

18

Alain Verloes

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1 August 2017

5

Yline Capri

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1 August 2017

H Annika Siitonen

1

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1 August 2017

Jenni Sotkasiira

2

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1 August 2017

Martine Biervliet

3

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1 August 2017

Abdelmadjid Benmansour

4

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1 August 2017

Barbara Crandall

7

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1 August 2017

Denise Herzog

10

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1 August 2017

Kathelijn Keymolen

11

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1 August 2017

Peter Miny

13

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1 August 2017

Sharon E Plon

14

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1 August 2017

Stefan Riedl

15

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1 August 2017

Ajoy Sarkar

16

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1 August 2017

Fernando R Vargas

17

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1 August 2017

Lisa L Wang

19

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1 August 2017

Marjo Kestilä

21

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1 August 2017

publication date

20 August 2008

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European Journal of Human Genetics

1 August 2017

published in

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1 August 2017

volume

17

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1 August 2017

issue

2

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1 August 2017

page(s)

151-158

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RecQ helicases: guardian angels of the DNA replication fork

1 August 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986053

Molecular genetics of RecQ helicase disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986053

Nuclear import and retention domains in the amino terminus of RECQL4.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986053

Mechanisms of RecQ helicases in pathways of DNA metabolism and maintenance of genomic stability

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986053

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986053

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986053

Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986053

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986053

Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986053

RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986053

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986053

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986053

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986053

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986053

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986053

TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986053

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986053

Rapadilino syndrome--a non-Finnish case

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986053

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986053

Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986053

The Baller-Gerold syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986053

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986053

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

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.154

Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.154

Is there a Baller-Gerold syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.154

Growth retardation and skin abnormalities of the Recql4-deficient mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.154

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986053

Overlap between Baller-Gerold and Rothmund-Thomson syndrome

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986053

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986053

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

28 October 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.154

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

21 January 2018

1 reference

12 December 2020

Variable presentation of Rothmund-Thomson syndrome

1 reference

12 December 2020

[Preparation of the gene targeted knockout mice for human premature aging diseases, Werner syndrome, and Rothmund-Thomson syndrome caused by the mutation of DNA helicases]

1 reference

12 December 2020

Rothmund-Thomson syndrome in fraternal twins

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2008.154

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1 August 2017

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1 August 2017

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