(Q34212004)

English

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome

scientific article published on September 3, 2010

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome (English)

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome (English)

1 reference

10.1093/HMG/DDQ371

https://api.crossref.org/works/10.1093/HMG/DDQ371

7 July 2024

0 references

poikiloderma with neutropenia

1 reference

based on heuristic

inferred from title

Rothmund-Thomson syndrome

1 reference

based on heuristic

inferred from title

dyskeratosis congenita

1 reference

based on heuristic

inferred from title

author name string

Tom Vulliamy

2

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Richard Beswick

3

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Michael Kirwan

4

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Inderjeet Dokal

5

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Amanda J. Walne

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20817924

7 July 2024

language of work or name

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20817924

7 July 2024

publication date

3 September 2010

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

full work available at URL

https://academic.oup.com/hmg/article-pdf/19/22/4453/17251301/ddq371.pdf

Portable Document Format

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20817924

7 July 2024

http://hmg.oxfordjournals.org/cgi/content/abstract/19/22/4453

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20817924

7 July 2024

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20817924/?tool=EBI

online access status

content deliverer

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20817924

7 July 2024

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20817924/pdf/?tool=EBI

Portable Document Format

online access status

content deliverer

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20817924

7 July 2024

https://europepmc.org/articles/PMC2957322

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20817924

7 July 2024

https://europepmc.org/articles/PMC2957322?pdf=render

Portable Document Format

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20817924

7 July 2024

https://academic.oup.com/hmg/article/19/22/4453/2527234/Mutations-in-C16orf57-and-normallength-telomeres

1 reference

10.1093/HMG/DDQ371

https://api.crossref.org/works/10.1093/HMG/DDQ371

7 July 2024

Human Molecular Genetics

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

19

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

22

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

4453-4461

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Rothmund-Thomson syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957322

5 July 2018

Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957322

5 July 2018

Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957322

5 July 2018

Telomere length measurement by a novel monochrome multiplex quantitative PCR method

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957322

5 July 2018

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957322

5 July 2018

Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957322

5 July 2018

TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957322

5 July 2018

Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957322

5 July 2018

Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957322

5 July 2018

Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957322

5 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=2957322

5 July 2018

The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957322

5 July 2018

Dyskeratosis congenita in all its forms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957322

5 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=2957322

5 July 2018

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957322

5 July 2018

In vivo telomere dynamics of human hematopoietic stem cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957322

5 July 2018

Parametric and nonparametric linkage analysis: a unified multipoint approach

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957322

5 July 2018

Structure and polymorphism of human telomere-associated DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957322

5 July 2018

Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957322

28 October 2018

Rothmund-Thomson syndrome (Thomson-type) and myelodysplasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957322

28 October 2018

Southwestern Athabaskan (Navajo and Apache) genetic diseases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957322

28 October 2018

Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation

1 reference

https://pubmed.ncbi.nlm.nih.gov/20817924

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco

1 reference

https://pubmed.ncbi.nlm.nih.gov/20817924

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20817924

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria

1 reference

https://pubmed.ncbi.nlm.nih.gov/20817924

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haematological disease in siblings with Rothmund-Thomson syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/20817924

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/20817924

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDQ371

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

ResearchGate publication ID

0 references

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