(Q33597606)

28 July 2017

Sex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysis (English)

1 reference

28 July 2017

0 references

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1682494

28 October 2022

sex ratio

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1682494

restriction fragment length polymorphism

28 October 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1682494

28 October 2022

1 reference

https://api.crossref.org/works/10.1136/JMG.28.10.672

28 October 2022

author

Hans C. van Houwelingen

3

object named as

J. C. van Houwelingen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1682494

28 October 2022

author name string

Bröcker-Vriends AH

1

1 reference

28 July 2017

van Houwelingen JC

3

1 reference

28 July 2017

van Ommen GJ

5

1 reference

28 July 2017

van de Kamp JJ

6

1 reference

28 July 2017

Briët E

7

1 reference

28 July 2017

A. H. Bröcker-Vriends

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1682494

28 October 2022

F. R. Rosendaal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1682494

28 October 2022

E. Bakker

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1682494

28 October 2022

G. J. van Ommen

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1682494

28 October 2022

J. J. van de Kamp

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1682494

28 October 2022

E. Briët

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1682494

28 October 2022

language of work or name

English

0 references

publication date

1 October 1991

1 reference

full work available at URL

28 July 2017

https://europepmc.org/articles/PMC1017053

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1682494

https://europepmc.org/articles/PMC1017053?pdf=render

28 October 2022

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%3A1682494

https://syndication.highwire.org/content/doi/10.1136/jmg.28.10.672

28 October 2022

1 reference

Crossref

https://api.crossref.org/works/10.1136/JMG.28.10.672

Journal of Medical Genetics

28 October 2022

published in

1 reference

28 July 2017

28

1 reference

28 July 2017

672-680

1 reference

28 July 2017

10

1 reference

Sporadic cases of hemophilia and the question of a possible sex difference in mutation rates

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Segregation analysis of hemophilia A and B

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Estimation of male to female ratio of mutation rates from carrier-detection tests in X-linked disorders

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

A clinically useful DNA probe closely linked to haemophilia A

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

The effect of parental age on rates of mutation for hemophilia and evidence for differing mutation rates for hemophilia A and B

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Detection of the carrier state in hereditary coagulation disorders. I

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Equilibrium frequencies in X-linked recessive disease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Life expectancy of Swedish haemophiliacs, 1831-1980.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Estimation of the male to female ratio of mutation rates from the segregation of X-chromosomal DNA haplotypes in Duchenne muscular dystrophy families

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

A somatic mosaic for haemophilia A detected at the DNA level.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Lineage promiscuity in hemopoietic differentiation and leukemia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Characterization of five partial deletions of the factor VIII gene

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

On the power to detect differences between male and female mutation rates for Duchenne muscular dystrophy, using classical segregation analysis and restriction fragment length polymorphisms

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Detection and sequence of mutations in the factor VIII gene of haemophiliacs

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Genetic screening for hemophilia A (classic hemophilia) with a polymorphic DNA probe

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Mortality and causes of death in Dutch haemophiliacs, 1973-86.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Maternal duplication associated with gene deletion in sporadic hemophilia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

RFLP analysis in families with sporadic hemophilia A. Estimate of the mutation ratio in male and female gametes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Linked and intragenic probes for haemophilia A.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Moderately severe hemophilia A resulting from Glu----Gly substitution in exon 7 of the factor VIII gene

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Partial deletions of factor VIII gene as molecular diagnostic markers in haemophilia A.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Mosaicism and sporadic haemophilia: implications for carrier determination

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Molecular defects in hemophilia A: identification and characterization of mutations in the factor VIII gene and family analysis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Modern haemophilia treatment: medical improvements and quality of life

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Sex ratio of the mutation frequencies in haemophilia A: estimation and meta-analysis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Molecular analysis of hemophilia A mutations in the Finnish population

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Somatic origin of inherited haemophilia A.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Carrier detection in classical hemophilia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

The laboratory diagnosis of the carrier state for classic hemophilia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Estimation of proportion of new mutants among cases of Duchenne muscular dystrophy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Some Aspects of the Occurrence of New Mutations in Haemophilia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

The sporadic case of haemophilia A.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

A maximum likelihood estimate of the sex ratio of mutation rates in haemophilia A.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Ascertainment bias and power of procedures to estimate differences between male and female mutation rates.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

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

30 October 2018

1 reference

12 December 2020

Methods for the detection of haemophilia carriers: a memorandum

1 reference

12 December 2020

Carrier studies in "Simplex families"

1 reference

12 December 2020

Quantitative estimation of proteins by electrophoresis in agarose gel containing antibodies

1 reference

12 December 2020

The rate of spontaneous mutation of a human gene

3

1 reference

Crossref

https://api.crossref.org/works/10.1136/JMG.28.10.672

The effect of the age of the father at conception on the mutations to hemphilia A

28 October 2022

27

1 reference

Crossref

https://api.crossref.org/works/10.1136/JMG.28.10.672

28 October 2022

Identifiers

1 reference

28 July 2017

1 reference

28 July 2017

1 reference