(Q37385827)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23335200%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

title

A family with Hoyeraal-Hreidarsson syndrome and four variants in two genes of the telomerase core complex (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23335200%20AND%20SRC:MED&resulttype=core&format=json

Hoyeraal-Hreidarsson syndrome

22 February 2020

main subject

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23335200%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

David B. Wilson

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23335200%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

author name string

Paraskevi Vogiatzi

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23335200%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Philip J Mason

3

1 reference

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22 February 2020

Monica Bessler

5

1 reference

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22 February 2020

publication date

17 January 2013

1 reference

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22 February 2020

published in

Pediatric Blood Cancer

1 reference

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22 February 2020

volume

60

1 reference

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22 February 2020

issue

6

1 reference

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22 February 2020

page(s)

E4-6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23335200%20AND%20SRC:MED&resulttype=core&format=json

Constitutional telomerase mutations are genetic risk factors for cirrhosis

22 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3860171

Population-genetic properties of differentiated human copy-number polymorphisms

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3860171

TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3860171

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3860171

Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3860171

Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3860171

A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3860171

A four base pair insertion in exon 1 of the RPS19 gene is a common polymorphism in African-Americans

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3860171

Skewed X-inactivation in carriers of X-linked dyskeratosis congenita.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3860171

2 September 2018

Identifiers

DOI

10.1002/PBC.24389

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23335200%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23335200%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

PubMed publication ID

23335200

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23335200%20AND%20SRC:MED&resulttype=core&format=json