(Q36775668)

16 August 2017

1 reference

title

The contribution of DNA analysis to carrier detection and prenatal diagnosis of hemophilia A and B (English)

1 reference

nucleic acid sequence analysis

13 November 2022

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inferred from title

author name string

A. H. Bröcker-Vriends

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:1739755

13 November 2022

E. Bakker

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:1739755

13 November 2022

H. H. Kanhai

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:1739755

13 November 2022

G. J. van Ommen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:1739755

13 November 2022

P. H. Reitsma

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:1739755

13 November 2022

J. J. van de Kamp

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:1739755

13 November 2022

E. Briët

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:1739755

13 November 2022

language of work or name

1 reference

1 January 1992

1 reference

full work available at URL

16 August 2017

http://link.springer.com/content/pdf/10.1007/BF01811464.pdf

1 reference

http://link.springer.com/article/10.1007/BF01811464/fulltext.html

13 November 2022

1 reference

http://link.springer.com/content/pdf/10.1007/BF01811464

13 November 2022

1 reference

13 November 2022

1 reference

16 August 2017

volume

64

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16 August 2017

issue

1

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16 August 2017

page(s)

2-11

1 reference

Hemophilia A. Detection of molecular defects and of carriers by DNA analysis

16 August 2017

cites work

1 reference

12 December 2020

Evidence for a prevalent dimorphism in the activation peptide of human coagulation factor IX.

1 reference

12 December 2020

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

1 reference

12 December 2020

Denaturing gradient gel electrophoresis and direct sequencing of PCR amplified genomic DNA: a rapid and reliable diagnostic approach to beta thalassaemia

1 reference

12 December 2020

Modern haemophilia treatment: medical improvements and quality of life

1 reference

12 December 2020

Diagnosis of haemophilia B carriers using intragenic oligonucleotide probes

1 reference

12 December 2020

Combined use of DNA probes in first-trimester prenatal diagnosis of hemophilia A

1 reference

12 December 2020

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

12 December 2020

Physical mapping of the factor VIII gene proximal to two polymorphic DNA probes in human chromosome band Xq28: implications for factor VIII gene segregation analysis

1 reference

12 December 2020

Life expectancy of Swedish haemophiliacs, 1831-1980.

1 reference

12 December 2020

Two factor IX mutations in the family of an isolated haemophilia B patient: direct carrier diagnosis by amplification mismatch detection (AMD).

1 reference

12 December 2020

Evaluation of transcervical chorionic villus sampling with a completed follow-up of 1550 consecutive pregnancies

1 reference

12 December 2020

Methods for the detection of haemophilia carriers: a memorandum

1 reference

12 December 2020

Carrier detection for hemophilia B: evaluation of multiple polymorphic sites.

1 reference

12 December 2020

Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients

1 reference

12 December 2020

Isolation of a human anti-haemophilic factor IX cDNA clone using a unique 52-base synthetic oligonucleotide probe deduced from the amino acid sequence of bovine factor IX.

1 reference

12 December 2020

Two sisters with a distal deletion at the Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic counselling, carrier detection, and prenatal diagnosis in hemophilia. A service experience

1 reference

12 December 2020

Molecular cloning of the gene for human anti-haemophilic factor IX.

1 reference

12 December 2020

Carrier detection strategy in haemophilia A: the benefits of combined DNA marker analysis and coagulation testing in sporadic haemophilic families

1 reference

12 December 2020

A new polymorphism in the factor VIII gene for prenatal diagnosis of hemophilia A.

1 reference

12 December 2020

A clinically useful DNA probe closely linked to haemophilia A

1 reference

12 December 2020

Linked and intragenic probes for haemophilia A.

1 reference

12 December 2020

Genetic analysis of the fragile-X mental retardation syndrome with two flanking polymorphic DNA markers

1 reference

12 December 2020

Hemophilia B (Christmas disease) variants and carrier detection analyzed by DNA probes

1 reference

12 December 2020

Carrier testing and prenatal diagnosis for hemophilia: experiences and attitudes of 549 potential and obligate carriers

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Carrier detection of haemophilia B by using an intragenic restriction-fragment length polymorphism

1 reference

12 December 2020

Probabilistic classification of hemophilia A carriers by discriminant analysis

1 reference

12 December 2020

Characterisation and use of an intragenic polymorphic marker for detection of carriers of haemophilia B (factor IX deficiency).

1 reference

12 December 2020

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

1 reference

12 December 2020

Oral contraception and the detection of carriers in haemophilia B

1 reference

12 December 2020

Individual-specific ‘fingerprints’ of human DNA

1 reference

12 December 2020

Characterization of the human factor VIII gene

1 reference

12 December 2020

The human genes for hemophilia A and hemophilia B flank the X chromosome fragile site at Xq27.3.

1 reference

12 December 2020

Application of an intragenic genomic probe to genetic counselling for haemophilia B in the west of Scotland

1 reference

12 December 2020

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

1 reference

12 December 2020

Carrier detection in hemophilia A: a cooperative international study. II. The efficacy of a universal discriminant.

1 reference

12 December 2020

Carrier detection in 50 haemophilia A kindred by means of three intragenic and two extragenic restriction fragment length polymorphisms

1 reference

12 December 2020

Carrier detection in hemophilia using pedigree analysis coagulation tests and DNA probes

1 reference

12 December 2020

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

1 reference

12 December 2020

Somatic origin of inherited haemophilia A.

1 reference

12 December 2020

A new MspI restriction fragment length polymorphism in the hemophilia B locus

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular pathology of haemophilia B

1 reference

12 December 2020

Comparison of phenotypic assessment and the use of two restriction fragment length polymorphisms in the diagnosis of the carrier state in haemophilia B.

1 reference

12 December 2020

Regional localization of the human factor IX gene by molecular hybridization

1 reference

12 December 2020

Detection of carriers of haemophilia B

1 reference

12 December 2020

Detection of polymorphisms at cytosine phosphoguanadine dinucleotides and diagnosis of haemophilia B carriers

1 reference

12 December 2020

Detection of hemophilia A carriers using intragenic factor VIII:C DNA polymorphisms.

1 reference

12 December 2020

MspI polymorphism in the 3' flanking region of the human factor VIII gene

1 reference

12 December 2020

A second BamHI DNA polymorphism and haplotype association in the factor IX gene

1 reference

12 December 2020

Prenatal Diagnosis of Classic Hemophilia

1 reference

12 December 2020

Carrier detection in haemophilia B using two further intragenic restriction fragment length polymorphisms

1 reference

12 December 2020

A new HindIII restriction fragment length polymorphism in the hemophilia A locus

1 reference

12 December 2020

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

1 reference

12 December 2020

The molecular basis of hemophilia A in man.

1 reference

12 December 2020

Plasma assay of fetal factors VIIIC and IX for prenatal diagnosis of haemophilia

1 reference

12 December 2020

The putative factor IX gene promoter in hemophilia B Leyden

1 reference

12 December 2020

A Dutch pedigree with mild hemophilia B with a missense mutation in the first EGF domain (factor IXOud en Nieuw Gastel).

1 reference

12 December 2020

Isolation and characterization of a cDNA coding for human factor IX

1 reference

12 December 2020

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

1 reference

12 December 2020

Hemophilia A: carrier detection and prenatal diagnosis by DNA analysis.

1 reference

12 December 2020

An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.

1 reference

12 December 2020

Carrier detection in hemophilia A: a cooperative international study. I. The carrier phenotype.

1 reference

12 December 2020

RFLP analysis for diagnosis of haemophilia A in the German Democratic Republic

1 reference

12 December 2020

Use of a BamHI polymorphism in the factor IX gene for the determination of hemophilia B carrier status

1 reference

12 December 2020

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

1 reference

12 December 2020

The use of DNA amplification for genetic counselling related diagnosis in haemophilia B

1 reference

12 December 2020

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

1 reference

12 December 2020

Cytogenetics and Cell Genetics

44

51

1031

A-E Lehesjoki

1989

1 reference

13 November 2022

Identifiers

DOI

10.1007/BF01811464

1 reference

16 August 2017

1 reference