Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects. (Q37235173)

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25 February 2020

title

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects (English)

1 reference

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25 February 2020

author

Nicola Brunetti-Pierri

8

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25 February 2020

M Stephen Meyn

16

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25 February 2020

Andrea Shugar

21

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25 February 2020

Peter J Van den Elsen

22

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25 February 2020

Silvère M van der Maarel

23

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25 February 2020

18

Ismail Reisli

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25 February 2020

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Mirjam van der Burg

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25 February 2020

author name string

Corry M R Weemaes

1

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25 February 2020

Maarten J D van Tol

2

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25 February 2020

Jun Wang

3

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25 February 2020

Monique M van Ostaijen-ten Dam

4

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25 February 2020

Marja C J A van Eggermond

5

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25 February 2020

Peter E Thijssen

6

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25 February 2020

Caner Aytekin

7

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25 February 2020

E Graham Davies

10

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25 February 2020

Alina Ferster

11

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25 February 2020

Dieter Furthner

12

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25 February 2020

Giorgio Gimelli

13

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25 February 2020

Andy Gennery

14

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25 February 2020

Barbara Kloeckener-Gruissem

15

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25 February 2020

Cynthia Powell

17

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25 February 2020

Catharina Schuetz

19

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25 February 2020

Ansgar Schulz

20

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publication date

13 March 2013

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European Journal of Human Genetics

25 February 2020

published in

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25 February 2020

volume

21

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25 February 2020

page(s)

1219-1225

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25 February 2020

issue

11

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https://scigraph.springernature.com/pub.10.1038/ejhg.2013.40

25 February 2020

exact match

0 references

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T-cell apoptosis in ICF syndrome

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12 December 2020

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

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12 December 2020

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

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

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12 December 2020

Age patterns of immunoglobulins G, A & M in healthy children and the influence of breast feeding and vaccination status

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Immunophenotyping of blood lymphocytes in childhood. Reference values for lymphocyte subpopulations

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Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndrome

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Early prenatal diagnosis of ICF syndrome by mutation detection

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Hematopoietic Stem Cell Transplantation Corrects the Immunologic Abnormalities Associated With Immunodeficiency Centromeric Instability Facial Dysmorphism Syndrome

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Angiosarcoma in a patient with immunodeficiency, centromeric region instability, facial anomalies (ICF) syndrome

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Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst

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12 December 2020

Identifiers

DOI

10.1038/EJHG.2013.40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23486536%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23486536%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

1 reference