ICF syndrome with variable expression in sibs (Q33595365)

28 July 2017

title

ICF syndrome with variable expression in sibs (English)

1 reference

28 July 2017

Gimelli G

1

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28 July 2017

Varone P

2

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28 July 2017

Pezzolo A

3

1 reference

28 July 2017

Lerone M

4

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28 July 2017

Pistoia V

5

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28 July 2017

publication date

1 May 1993

1 reference

Journal of Medical Genetics

28 July 2017

language of work or name

English

0 references

published in

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28 July 2017

volume

30

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28 July 2017

issue

5

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28 July 2017

page(s)

429-432

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Centromeric instability of chromosomes 1 and 16 with variable immune deficiency: a new syndrome

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016386

Fragile 19p13 in a family with mental illness

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016386

Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016386

Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016386

Differential expression of the ICF (immunodeficiency, centromeric heterochromatin, facial anomalies) mutation in lymphocytes and fibroblasts

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016386

Chromosome-specific alpha satellite DNA from the centromere of human chromosome 16

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016386

Fragility of the centromeric region of chromosome 1 associated with combined immunodeficiency in siblings. A recessively inherited entity?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016386

Multibranched chromosomes in the ICF syndrome: immunodeficiency, centromeric instability, and facial anomalies

21 June 2018

1 reference

12 December 2020

Variable immunodeficiency with abnormal condensation of the heterochromatin of chromosomes 1, 9, and 16

1 reference

12 December 2020

Chromosome-specific alpha satellite DNA from human chromosome 1: hierarchical structure and genomic organization of a polymorphic domain spanning several hundred kilobase pairs of centromeric DNA

1 reference

12 December 2020

Centromeric instability of chromosomes 1, 9, and 16 associated with combined immunodeficiency

1 reference

12 December 2020

Large granular lymphocytes from patients with expanded LGL populations acquire cytotoxic functions and release lymphokines upon in vitro activation

1 reference

12 December 2020

Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.30.5.429

1 reference

release_s7jxnbgrojardeeuu3kw2gsdtq

28 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/s7jxnbgrojardeeuu3kw2gsdtq

24 November 2022

mapped directly with Wikidata item

PMC publication ID

1016386

1 reference

28 July 2017

1 reference