(Q36669776)

15 August 2017

1 reference

title

Haemophilia: strategies for carrier detection and prenatal diagnosis (English)

1 reference

15 August 2017

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Peake IR

1

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15 August 2017

Lillicrap DP

2

1 reference

15 August 2017

Boulyjenkov V

3

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15 August 2017

Briet E

4

1 reference

15 August 2017

Chan V

5

1 reference

15 August 2017

Ginter EK

6

1 reference

15 August 2017

Kraus EM

7

1 reference

15 August 2017

Ljung R

8

1 reference

15 August 2017

Mannucci PM

9

1 reference

15 August 2017

Nicolaides K

10

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15 August 2017

language of work or name

English

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publication date

1 January 1993

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15 August 2017

30

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Bulletin of the World Health Organization

inferred from page(s)

published in

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15 August 2017

71

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15 August 2017

3-4

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15 August 2017

429-458

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Genetic variants of hemophilia B: detection by means of a specific PTC inhibitor

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Detection of carriers of classic hemophilia using an immunologic assay for antihemophilic factor (factor 8().

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Nucleotide sequence of the gene for human factor IX (antihemophilic factor B)

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Maternal duplication associated with gene deletion in sporadic hemophilia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

A DNA marker closely linked to the factor IX (haemophilia B) gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

A contiguous, 3-Mb physical map of Xq28 extending from the colorblindness locus to DXS15.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Isolation of fetal DNA from nucleated erythrocytes in maternal blood

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Analysis of the first polar body: preconception genetic diagnosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Somatic origin of inherited haemophilia A.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Genetically modified skin fibroblasts persist long after transplantation but gradually inactivate introduced genes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

The varying frequencies of five DNA polymorphisms of X-linked coagulant factor IX in eight ethnic groups

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Restriction fragment length polymorphisms associated with the factor VIII and factor IX genes in Polynesians

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

A TaqI polymorphism adjacent to the factor VIII gene (F8C).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Detection of specific sequences among DNA fragments separated by gel electrophoresis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Effect of oral contraceptives on factor VIII clotting activity and factor VIII related antigen in normal women

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Immunoradiometric assay of procoagulant factor-VIII antigen in plasma and serum and its reduction in haemophilia. Preliminary studies on adult and fetal blood

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Fetal blood sampling during pregnancy with use of a needle guided by ultrasound: a study of 606 consecutive cases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Characterization of the human factor VIII gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Carrier detection in Japanese hemophilia A by use of three intragenic and two extragenic factor VIII DNA probes: a study of 24 kindreds

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Restriction fragment length polymorphisms associated with factor VIII:C gene in Chinese

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Possible absence of common polymorphisms in coagulation factor IX gene in Japanese subjects

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Diagnosis of haemophilia B carriers using intragenic oligonucleotide probes

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Carrier testing strategy in haemophilia A.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Molecular cloning of a cDNA encoding canine factor IX.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Multiple XbaI polymorphisms for carrier detection and prenatal diagnosis of haemophilia A.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

The factor IX BamHI polymorphism: T-to-G transversion at the nucleotide sequence -561. The BamHI/MSPI haplotypes in blacks and Caucasians

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

The Malmö polymorphism of factor IX: establishing the genotypes by rapid analysis of DNA.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Mosaicism and sporadic haemophilia: implications for carrier determination

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Biopsy of human preimplantation embryos and sexing by DNA amplification.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Trophectoderm biopsy in human blastocysts.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Facile and rapid analysis of three DNA polymorphisms within the human factor IX gene using the polymerase chain reaction

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Direct estimate of the haemophilia B (factor IX deficiency) mutation rate and of the ratio of the sex-specific mutation rates in Sweden

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Hemophilia B: characterization of genetic variants and detection of carriers

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Oral contraception and the detection of carriers in haemophilia B

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Detection of carriers of haemophilia B

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Sampling pure fetal blood by fetoscopy in second trimester of pregnancy

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

The inheritance of Christmas factor

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Detection of hemophilia carriers during pregnancy.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

A canine model of hemophilic (factor VIII:C deficiency) bleeding

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Recombination between factor VIII:C gene and St14 locus.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Severe limb abnormalities after chorion villus sampling at 56-66 days' gestation

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2393505

Immunoradiometric Assay of Factor VIII Related Antigen, with Observations in 32 Patients with von Willebrand's Disease

20 September 2018

1 reference

12 December 2020

Genetic diagnosis before the eighth gestational week

1 reference

12 December 2020

Use of chromogenic peptide substrates in the determination of clotting factors II, VII, IX and X in normal plasma and in plasma of patients treated with oral anticoagulants

1 reference

12 December 2020

Factor VIII levels and blood group antigens

1 reference

12 December 2020

Ultrasound-guided sampling of umbilical cord and placental blood to assess fetal wellbeing

1 reference

12 December 2020

Diagnosis of Sickle Cell Anemia and β-Thalassemia with Enzymatically Amplified DNA and Nonradioactive Allele-Specific Oligonucleotide Probes

1 reference

12 December 2020

Identifiers

1 reference

15 August 2017

PubMed publication ID

8324863

1 reference