Genetic variation in ICF syndrome: evidence for genetic heterogeneity (Q24290581)

DNA methyltransferase 3 beta

Europe PubMed Central

title

Genetic variation in ICF syndrome: evidence for genetic heterogeneity (English)

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main subject

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DNA-methyltransferase activity

GOA release 2020-03-11

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GOA release 2020-03-11

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1

C Wijmenga

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author name string

R S Hansen

2

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G Gimelli

3

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E J Björck

4

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E G Davies

5

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D Valentine

6

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B H Belohradsky

7

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J J van Dongen

8

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D F Smeets

9

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L P van den Heuvel

10

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J A Luyten

11

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E Strengman

12

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C Weemaes

13

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P L Pearson

Centromeric instability of chromosome 1 resulting in multibranched chromosomes, telomeric fusions, and "jumping translocations" of 1q in a human immunodeficiency virus-related non-Hodgkin's lymphoma

14

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language of work or name

English

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publication date

December 2000

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published in

Human Mutation

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volume

16

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page(s)

509-17

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issue

6

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cites work

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7 January 2021

Exact size and organization of DNA target-recognizing domains of multispecific DNA-(cytosine-C5)-methyltransferases.

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7 January 2021

ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of clinical outcome

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https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V

7 January 2021

DNA, FISH and complementation studies in ICF syndrome: DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factor

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V

7 January 2021

ICF syndrome: a new case and review of the literature

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V

7 January 2021

DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V

7 January 2021

Cloning, expression and chromosome locations of the human DNMT3 gene family

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V

7 January 2021

Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene

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https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V

7 January 2021

The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome

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https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V

7 January 2021

Localization of the ICF syndrome to chromosome 20 by homozygosity mapping

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https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V

7 January 2021

Long homozygous chromosomal segments in reference families from the centre d'Etude du polymorphisme humain

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V

7 January 2021

True and false positive peaks in genomewide scans: applications of length-biased sampling to linkage mapping.

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V

7 January 2021

Abnormal methylation pattern in constitutive and facultative (X inactive chromosome) heterochromatin of ICF patients

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V

7 January 2021

ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V

7 January 2021

Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2.

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V

7 January 2021

ICF syndrome with variable expression in sibs

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V

7 January 2021

Undermethylation of Alu sequences in ICF syndrome: molecular and in situ analysis

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V

7 January 2021

10.1002/1098-1004(200012)16:6<509::AID-HUMU8>3.0.CO;2-V

Identifiers

DOI

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10.1002/1098-1004(200012)16:6<509::AID-HUMU8>3.3.CO;2-M

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Consolidated OpenCitations Corpus – April 2017

3870803

3870803

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Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference