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Female monozygotic twins discordant for hemophilia A due to nonrandom X-chromosome inactivation.
scientific article
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scholarly article
1 reference
stated in
Europe PubMed Central
PMCID
5715470
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18645989%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 January 2020
title
Female monozygotic twins discordant for hemophilia A due to nonrandom X-chromosome inactivation
(English)
1 reference
stated in
Europe PubMed Central
PMCID
5715470
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18645989%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 January 2020
main subject
hemophilia
0 references
hemophilia A
0 references
author
Ellis J Neufeld
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMCID
5715470
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18645989%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 January 2020
author name string
Carolyn M Bennett
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
5715470
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18645989%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 January 2020
Eileen Boye
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMCID
5715470
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18645989%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 January 2020
publication date
1 October 2008
1 reference
stated in
Europe PubMed Central
PMCID
5715470
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18645989%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 January 2020
published in
American Journal of Hematology
1 reference
stated in
Europe PubMed Central
PMCID
5715470
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18645989%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 January 2020
volume
83
1 reference
stated in
Europe PubMed Central
PMCID
5715470
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18645989%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 January 2020
issue
10
1 reference
stated in
Europe PubMed Central
PMCID
5715470
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18645989%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 January 2020
page(s)
778-780
1 reference
stated in
Europe PubMed Central
PMCID
5715470
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18645989%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 January 2020
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PubMed Central
reference URL
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Twin sisters, monozygotic with the fragile X mutation, but with a different phenotype
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24 May 2018
Commitment to X inactivation precedes the twinning event in monochorionic MZ twins.
1 reference
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PubMed Central
reference URL
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Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy
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PubMed Central
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24 May 2018
Different patterns of X inactivation in MZ twins discordant for red-green color-vision deficiency
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PubMed Central
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24 May 2018
Female twin with Hunter disease due to nonrandom inactivation of the X-chromosome: a consequence of twinning
1 reference
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PubMed Central
reference URL
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24 May 2018
Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
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24 May 2018
Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females
1 reference
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PubMed Central
reference URL
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15 August 2018
Female hemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII.
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PubMed Central
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15 August 2018
Lesch-Nyhan disease in a female with a clinically normal monozygotic twin
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PubMed Central
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15 August 2018
Female haemophiliac homozygous for the factor VIII intron 22 inversion mutation, with transcriptional inactivation of one of the factor VIII alleles.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5715470
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15 August 2018
Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A.
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PubMed Central
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15 August 2018
Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5715470
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15 August 2018
Severe haemophilia A in a female: a compound heterozygote with nonrandom X-inactivation
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5715470
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15 August 2018
X chromosome-inactivation patterns confirm the late timing of monoamniotic-MZ twinning
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5715470
retrieved
15 August 2018
Severe haemophilia A in a female resulting from two de novo factor VIII mutations.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5715470
retrieved
15 August 2018
Inversion of intron 22 of the factor VIII gene in a girl with severe hemophilia A and Turner's syndrome
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/18645989
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Inherited bleeding syndromes in Iraq
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/18645989
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1002/AJH.21219
1 reference
stated in
Europe PubMed Central
PMCID
5715470
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18645989%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 January 2020
PMCID
5715470
1 reference
stated in
Europe PubMed Central
PMCID
5715470
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18645989%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 January 2020
PubMed ID
18645989
1 reference
stated in
Europe PubMed Central
PMCID
5715470
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18645989%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 January 2020
ResearchGate publication ID
51419845
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