(Q33676407)

28 July 2017

title

Inversions in the factor VIII gene: improvement of carrier detection and prenatal diagnosis in Dutch haemophilia A families (English)

1 reference

28 July 2017

0 references

Coagulation factor VIII

0 references

hemophilia A

0 references

chromosomal inversion

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7643361

9 July 2024

author name string

de Vries-v d Weerd S

5

1 reference

28 July 2017

P. P. Deutz-Terlouw

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7643361

9 July 2024

M. Losekoot

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7643361

9 July 2024

R. Olmer

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7643361

9 July 2024

W. C. Pieneman

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7643361

9 July 2024

S. de Vries-v d Weerd

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7643361

9 July 2024

E. Briët

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7643361

9 July 2024

E. Bakker

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7643361

9 July 2024

language of work or name

English

0 references

publication date

1 April 1995

1 reference

full work available at URL

28 July 2017

https://jmg.bmj.com/content/jmedgenet/32/4/296.full.pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7643361

https://europepmc.org/articles/PMC1050380

9 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7643361

https://europepmc.org/articles/PMC1050380?pdf=render

9 July 2024

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7643361

https://syndication.highwire.org/content/doi/10.1136/jmg.32.4.296

9 July 2024

1 reference

https://api.crossref.org/works/10.1136/JMG.32.4.296

Journal of Medical Genetics

9 July 2024

published in

1 reference

28 July 2017

volume

32

1 reference

28 July 2017

issue

4

1 reference

28 July 2017

page(s)

296-300

1 reference

Haemophilia: strategies for carrier detection and prenatal diagnosis

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050380

Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050380

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050380

Factor VIII gene rearrangements in patients with severe haemophilia A.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050380

Molecular cloning of a cDNA encoding human antihaemophilic factor

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050380

Characterization of the human factor VIII gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050380

Factor 8 detection by hemagglutination inhibition: hemophilia A and von Willebrand's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050380

A simple salting out procedure for extracting DNA from human nucleated cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050380

First trimester prenatal diagnosis of haemophilia A: two years' experience

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050380

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050380

Physical condition, longevity, and social performance of Dutch haemophiliacs, 1972-85.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050380

Somatic origin of inherited haemophilia A.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050380

Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050380

Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050380

Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050380

Expression of active human factor VIII from recombinant DNA clones

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050380

Genotype assignment of haemophilia A by use of intragenic and extragenic restriction fragment length polymorphisms

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7643361

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene

https://api.crossref.org/works/10.1136/JMG.32.4.296

6

1 reference

9 July 2024

Identifiers

DOI

10.1136/JMG.32.4.296

1 reference

28 July 2017

1 reference

28 July 2017

1 reference