(Q35881835)

English

Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.

scientific article published in April 1996

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scholarly article

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Europe PubMed Central

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16 October 2019

Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies (English)

1 reference

Europe PubMed Central

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16 October 2019

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Coagulation factor VIII

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author name string

Becker J

1

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16 October 2019

Schwaab R

2

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16 October 2019

Möller-Taube A

3

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16 October 2019

Schwaab U

4

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16 October 2019

Schmidt W

5

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16 October 2019

Brackmann HH

6

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16 October 2019

Grimm T

7

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16 October 2019

Olek K

8

1 reference

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16 October 2019

Oldenburg J

9

1 reference

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16 October 2019

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publication date

1 April 1996

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16 October 2019

American Journal of Human Genetics

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16 October 2019

58

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16 October 2019

657-670

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16 October 2019

4

1 reference

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16 October 2019

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

Segregation analysis of hemophilia A and B

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

Male-driven evolution of DNA sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

Inversions in the factor VIII gene in Spanish hemophilia A patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

Factor VIII gene rearrangements in patients with severe haemophilia A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

Direct and indirect estimation of the sex ratio of mutation frequencies in hemophilia A

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

Haemophilia A diagnosis by automated fluorescent DNA detection of ten factor VIII intron 13 dinucleotide repeat alleles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

Screening for mutations in haemophilia A patients by multiplex PCR-SSCP, Southern blotting and RNA analysis: the detection of a genetic abnormality in the factor VIII gene in 30 out of 35 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

Molecular etiology of factor VIII deficiency in hemophilia A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

The perpetuation of hemophilia by mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

Sister chromatid exchange and the evolution of rDNA spacer length.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

Spontaneous mutagenesis: the roles of DNA repair, replication, and recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

Detection and localization of single base changes by denaturing gradient gel electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

The CpG dinucleotide and human genetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

Direct detection of point mutations by mismatch analysis: application to haemophilia B.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

Molecular analysis of hemophilia A mutations in the Finnish population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

The molecular genetic analysis of hemophilia A: a directed search strategy for the detection of point mutations in the human factor VIII gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

The utility of a HindIII polymorphism of factor VIII examined by rapid DNA analysis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

Somatic origin of inherited haemophilia A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

Haemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the factor VIII gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

Rapid PCR analysis of the St14 (DXS52) VNTR

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

Estimation of the male and female mutation rates in Duchenne muscular dystrophy (DMD)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

Registry of DNA polymorphisms within or close to the human factor VIII and factor IX genes. For the Factor VIII/IX Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

DNA sequencing with chain-terminating inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

The sporadic case of haemophilia A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

11 July 2018

Characterization of mutations within the factor VIII gene of 73 unrelated mild and moderate haemophiliacs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

24 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

24 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

24 September 2018

Haemophilia A diagnosis by simultaneous analysis of two variable dinucleotide tandem repeats within the factor VIII gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

24 September 2018

Intron 22 inversions and haemophilia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

24 September 2018

Inversions of the factor VIII gene in Swedish patients with severe haemophilia A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

24 September 2018

cis-acting elements and transcription factors involved in the promoter activity of the human factor VIII gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

24 September 2018

Expression of active human factor VIII from recombinant DNA clones

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

24 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

24 September 2018

Recurrent mutations and three novel rearrangements in the factor VIII gene of hemophilia A patients of Italian descent.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

24 September 2018

Sex difference in methylation of single-copy genes in human meiotic germ cells: Implications for X chromosome inactivation, parental imprinting, and origin of CpG mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914681

24 September 2018

Characterization of genetic defects of hemophilia A in patients of Chinese origin

1 reference

https://pubmed.ncbi.nlm.nih.gov/8644728

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inversion of intron 22 in isolated cases of severe hemophilia A

1 reference

https://pubmed.ncbi.nlm.nih.gov/8644728

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Are the mutation rates for the X-chromosomal forms of hemophilia in female gonads lower than in the gonads of males?

1 reference

https://pubmed.ncbi.nlm.nih.gov/8644728

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8644728

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8644728%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8644728%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

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