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Hemophilia B
Known as:
Deficiency, plasma thromboplastin component
, Deficiency, functional factor IX
, Deficiency, PTC
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A deficiency of blood coagulation factor IX inherited as an X-linked disorder. (Also known as Christmas Disease, after the first patient studied in…
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National Institutes of Health
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Related topics
Related topics
33 relations
Broader (2)
Blood Coagulation Disorders
Hereditary Diseases
Danaparoid sodium
Dicumarol
F9 gene
F9 wt Allele
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
1999
Review
1999
Knee arthroplasty in hemophilic arthropathy.
H. Thomason
,
Frank C. Wilson
,
P. Lachiewicz
,
Scott S. Kelley
Clinical Orthopaedics and Related Research
1999
Corpus ID: 25429715
Twenty-three total knee arthroplasties in 15 patients with severe hemophilia were performed between February 1974 and September…
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Highly Cited
1994
Highly Cited
1994
Haemophilia A diagnosis by simultaneous analysis of two variable dinucleotide tandem repeats within the factor VIII gene
R. Michel
,
A. Lalloz
,
R. Schwaab
,
J. McVey
,
K. Michaelides
,
E. Tuddenham
British Journal of Haematology
1994
Corpus ID: 25024022
Summary. Haemophilia A is a bleeding disorder caused by defects in the gene coding for the co‐factor, factor VIII (FVIII). The…
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Highly Cited
1992
Highly Cited
1992
Disruption of a binding site for hepatocyte nuclear factor 4 results in hemophilia B Leyden.
Marlene J. Reuinen
,
Frances M. SLADEKt
,
R. Bertina
,
P. Reitsma
Proceedings of the National Academy of Sciences…
1992
Corpus ID: 20060823
Hemophilia B Leyden is an X chromosome-linked bleeding disorder characterized by very low plasma levels of blood coagulation…
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Highly Cited
1990
Highly Cited
1990
Haemophilia B: database of point mutations and short additions and deletions, 7th edition
F. Giannelli
,
P. Green
,
+8 authors
G. Brownlee
Nucleic Acids Res.
1990
Corpus ID: 205225044
The seventh edition of the haemophilia B database lists in easily accessible form all known factor IX mutations due to small…
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Highly Cited
1990
Highly Cited
1990
Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene.
D. Koeberl
,
C. Bottema
,
R. Ketterling
,
P. Bridge
,
D. Lillicrap
,
S. Sommer
American Journal of Human Genetics
1990
Corpus ID: 42498716
Spontaneous mutation provides the substrate for evolution on one hand and for genetic susceptibility to disease on the other hand…
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Highly Cited
1990
Highly Cited
1990
Medical geneticists confront ethical dilemmas: cross-cultural comparisons among 18 nations.
D. Wertz
,
J. Fletcher
,
J. Mulvihill
American Journal of Human Genetics
1990
Corpus ID: 22190470
To provide a basis for international discussion of ethical problems, we studied responses of medical geneticists in 18 countries…
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Highly Cited
1989
Highly Cited
1989
Mutations in the catalytic domain of human coagulation factor IX: rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior.
Oliver Attree
,
D. Vidaud
,
M. Vidaud
,
S. Amselem
,
J. Lavergne
,
M. Goossens
Genomics
1989
Corpus ID: 23641663
Highly Cited
1988
Highly Cited
1988
The putative factor IX gene promoter in hemophilia B Leyden.
H. P.
,
Reitsma
,
+9 authors
Briet
Blood
1988
Corpus ID: 24356320
Hemophilia B Leyden is characterized by low levels of factor IX antigen and activity before the age of 15, whereas after puberty…
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Highly Cited
1984
Highly Cited
1984
ANTIBODY TO LYMPHADENOPATHY-ASSOCIATED VIRUS IN HAEMOPHILIACS WITH AND WITHOUT AIDS
R. Ramsey
,
E. Palmer
,
+5 authors
B. Evatt
The Lancet
1984
Corpus ID: 46366554
Highly Cited
1969
Highly Cited
1969
Treatment of hemophilia B with a new clotting-factor concentrate.
M. Hoag
,
F. Johnson
,
J. A. Robinson
,
P. M. Aggeler
New England Journal of Medicine
1969
Corpus ID: 205032307
Abstract A new concentrate of clotting factors II, VII, IX and X, made from pooled human plasma collected in citrate…
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