(Q40928084)

English

Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome. Report of two new patients and review of the literature

scientific article published on October 1995

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scholarly article

1 reference

Europe PubMed Central

24 September 2017

1 reference

Europe PubMed Central

Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome. Report of two new patients and review of the literature (English)

1 reference

Europe PubMed Central

24 September 2017

immunodeficiency-centromeric instability-facial anomalies syndrome

0 references

author name string

P Franceschini

1

1 reference

Europe PubMed Central

24 September 2017

S Martino

2

1 reference

Europe PubMed Central

24 September 2017

M Ciocchini

3

1 reference

Europe PubMed Central

24 September 2017

E Ciuti

4

1 reference

Europe PubMed Central

24 September 2017

M P Vardeu

5

1 reference

Europe PubMed Central

24 September 2017

A Guala

6

1 reference

Europe PubMed Central

24 September 2017

F Signorile

7

1 reference

Europe PubMed Central

24 September 2017

P Camerano

8

1 reference

Europe PubMed Central

24 September 2017

D Franceschini

9

1 reference

Europe PubMed Central

24 September 2017

P A Tovo

10

1 reference

Europe PubMed Central

24 September 2017

publication date

1 October 1995

1 reference

Europe PubMed Central

24 September 2017

European Journal of Pediatrics

1 reference

Europe PubMed Central

24 September 2017

154

1 reference

Europe PubMed Central

24 September 2017

840-846

1 reference

Europe PubMed Central

24 September 2017

10

1 reference

Europe PubMed Central

24 September 2017

https://scigraph.springernature.com/pub.10.1007/bf01959794

0 references

ICF syndrome. Immunodeficiency, chromosomal centromere instability, facial anomalies. Case report and literature review

1 reference

https://pubmed.ncbi.nlm.nih.gov/8529685

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new chromosomal instability disorder confirmed by complementation studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/8529685

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ICF syndrome: a new case and review of the literature

1 reference

https://pubmed.ncbi.nlm.nih.gov/8529685

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8529685

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8529685

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interphase cytogenetics of the ICF syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8529685

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Centromeric heterochromatin instability of chromosomes 1, 9, and 16 in variable immunodeficiency syndrome--a virus-induced phenomenon?

1 reference

https://pubmed.ncbi.nlm.nih.gov/8529685

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8529685

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Centromeric instability of chromosomes 1, 9 and 16 with variable immune deficiency. Support of a new syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8529685

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8529685

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8529685

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ICF syndrome with variable expression in sibs

1 reference

https://pubmed.ncbi.nlm.nih.gov/8529685

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8529685

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new chromosomal instability disorder: the Nijmegen breakage syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8529685

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8529685

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8529685

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8529685

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF01959794

1 reference

Europe PubMed Central

24 September 2017

release_fdvgg42lxjf67jqh2hstqhhby4

1 reference

https://api.fatcat.wiki/v0/release/fdvgg42lxjf67jqh2hstqhhby4

24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

Europe PubMed Central

24 September 2017

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