Hemophilia A
|
0.100 |
Biomarker
|
disease |
BEFREE |
Polymorphism distribution of Int13, Int22, and St14 VNTRs in a Mexican population and their application in carrier diagnosis of hemophilia A.
|
15307098 |
2004 |
Hemophilia A
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Carrier detection and prenatal diagnosis of hemophilia A in a Korean population by PCR-based analysis of the BclI/intron 18 and St14 VNTR polymorphisms.
|
10944851 |
2000 |
Hemophilia A
|
0.100 |
Biomarker
|
disease |
BEFREE |
Rapid polymerase chain reaction analysis of St14 (DXS52) VNTR: carrier detection of hemophilia A.
|
9311183 |
1997 |
Hemophilia A
|
0.100 |
Biomarker
|
disease |
BEFREE |
The results obtained from a comparative analysis between phenotypic bioassays as the ratio of factor VIII: C clotting activity to factor VIII: C-related antigen, and DNA haplotypes from RFLP's TaqI/St14 and BclI/F8A in 12 hemophilia A (HeA) families are described.
|
1358771 |
1992 |
Hemophilia A
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Sixty-five individuals belonging to 16 argentinian families of hemophilia A were studied using the St 14 probe (DXS52 locus).
|
1973342 |
1990 |
Hemophilia A
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Her father had no clinical or biochemical signs of haemophilia A. RFLP-analysis using DX13 and St14 probes each elicited one allele (5.8 and 3.4 kb, respectively) segregating along with the affected F VIII gene from the hemizygous grandfather to both his daughters and further to the haemophilic female child.
|
2564325 |
1989 |
Hemophilia A
|
0.100 |
Biomarker
|
disease |
BEFREE |
The combination of the Bcll, Xbal, and Taql/St14 RFLPs gave 100% carrier detection in the hemophilia A families analyzed.
|
2900870 |
1988 |
Hemophilia A
|
0.100 |
Biomarker
|
disease |
BEFREE |
They include a new Bell restriction fragment length polymorphism (RFLP) detected by the probe St14-1 (DXS52) and which may therefore be of diagnostic use in hemophilia A families.
|
3502701 |
1987 |
Hemophilia A
|
0.100 |
Biomarker
|
disease |
BEFREE |
Two events of recombination were found between the St14 and the haemophilia A locus in 51 informative meioses.
|
2885943 |
1987 |
Hemophilia A
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Postulating that the combined use of all the available intragenic and extragenic markers can render such diagnoses more frequently feasible and more reliable, we carried out ten first-trimester prenatal diagnoses in male fetuses at risk for hemophilia A by DNA analysis of chorionic villus employing in combination the intragenic Bcl I polymorphism and the St 14 (DXS 52) or DX 13 (DXS 15) extragenic probes.
|
3127923 |
1987 |
Hemophilia A
|
0.100 |
Biomarker
|
disease |
BEFREE |
The haplotypes generated by two extra-genic RFLPs, at DXS52 (St14/Taq1) and DXS15 (DX13/BglII), and one intragenic RFLP in F8C (647/BclI) indicated that: she was not a carrier; the case of hemophilia resulted from a de novo mutation in a grandfather's gamete.
|
2877941 |
1986 |
Hemophilia A
|
0.100 |
Biomarker
|
disease |
BEFREE |
If a small risk of misclassification due to crossover between the test and the disease loci is accepted, this DNA marker should allow first-trimester prenatal diagnosis of hemophilia A. Segregation analysis with St14 may thus represent a major improvement in genetic counseling for hemophilia A.
|
2983207 |
1985 |