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Genetic variation in ICF syndrome: evidence for genetic heterogeneity
scientific article
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instance of
scholarly article
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review article
1 reference
stated in
Europe PubMed Central
title
Genetic variation in ICF syndrome: evidence for genetic heterogeneity
(English)
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main subject
DNA methyltransferase 3 beta
1 reference
stated in
GOA release 2020-03-11
DNA-methyltransferase activity
1 reference
stated in
GOA release 2020-03-11
heterogeneity
1 reference
based on heuristic
inferred from title
genetic variation
1 reference
based on heuristic
inferred from title
author
Cisca Wijmenga
series ordinal
1
object named as
C Wijmenga
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author name string
R S Hansen
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2
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G Gimelli
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3
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E J Björck
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4
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E G Davies
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5
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D Valentine
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6
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B H Belohradsky
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7
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J J van Dongen
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8
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D F Smeets
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9
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L P van den Heuvel
series ordinal
10
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J A Luyten
series ordinal
11
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E Strengman
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12
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C Weemaes
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13
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P L Pearson
series ordinal
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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issue
6
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page(s)
509-17
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cites work
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
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Exact size and organization of DNA target-recognizing domains of multispecific DNA-(cytosine-C5)-methyltransferases.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of clinical outcome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
ICF syndrome: a new case and review of the literature
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Variable immunodeficiency with abnormal condensation of the heterochromatin of chromosomes 1, 9, and 16
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cloning, expression and chromosome locations of the human DNMT3 gene family
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Localization of the ICF syndrome to chromosome 20 by homozygosity mapping
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Long homozygous chromosomal segments in reference families from the centre d'Etude du polymorphisme humain
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
True and false positive peaks in genomewide scans: applications of length-biased sampling to linkage mapping.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Abnormal methylation pattern in constitutive and facultative (X inactive chromosome) heterochromatin of ICF patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
ICF syndrome with variable expression in sibs
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Undermethylation of Alu sequences in ICF syndrome: molecular and in situ analysis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C509%3A%3AAID-HUMU8%3E3.0.CO%3B2-V
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/1098-1004(200012)16:6<509::AID-HUMU8>3.0.CO;2-V
0 references
10.1002/1098-1004(200012)16:6<509::AID-HUMU8>3.3.CO;2-M
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
3870803
OpenCitations bibliographic resource ID
3870803
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
3870803
PubMed publication ID
11102980
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
3870803
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