Published in Proc Natl Acad Sci U S A on January 01, 1991
Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. Proc Natl Acad Sci U S A (1992) 2.26
Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers. Am J Hum Genet (1992) 1.81
Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation. Am J Hum Genet (1993) 1.66
Mutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B. Am J Hum Genet (1999) 1.61
Haemophilia B: database of point mutations and short additions and deletions--fourth edition, 1993. Nucleic Acids Res (1993) 1.49
Haemophilia B (sixth edition): a database of point mutations and short additions and deletions. Nucleic Acids Res (1996) 1.44
Haemophilia B: database of point mutations and short additions and deletions--third edition, 1992. Nucleic Acids Res (1992) 1.36
Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994. Nucleic Acids Res (1994) 1.21
Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery. Am J Hum Genet (1994) 1.10
Reading-frame restoration with an apolipoprotein B gene frameshift mutation. Proc Natl Acad Sci U S A (1992) 1.03
Parental origin of factor IX gene mutations, and their distribution in the gene. Am J Hum Genet (1992) 1.01
Germinal mosaicism and risk calculation in X-linked diseases. Am J Hum Genet (1992) 0.92
Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring. Am J Hum Genet (1993) 0.89
Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease. Am J Hum Genet (1992) 0.83
De novo mutation and somatic mosaicism of gene mutation in type 2A, 2B and 2M VWD. Thromb J (2016) 0.75
Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus. Proc Natl Acad Sci U S A (1988) 18.72
Nucleotide sequence of the gene for human factor IX (antihemophilic factor B). Biochemistry (1985) 11.80
Ancient DNA: extraction, characterization, molecular cloning, and enzymatic amplification. Proc Natl Acad Sci U S A (1989) 5.50
Isolation and characterization of a cDNA coding for human factor IX. Proc Natl Acad Sci U S A (1982) 3.14
Review and hypotheses: somatic mosaicism: observations related to clinical genetics. Am J Hum Genet (1988) 3.05
Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen. Am J Hum Genet (1988) 3.00
Molecular pathology of haemophilia B. EMBO J (1989) 2.74
Direct detection of point mutations by mismatch analysis: application to haemophilia B. Nucleic Acids Res (1989) 2.64
Gene deletions in patients with haemophilia B and anti-factor IX antibodies. Nature (1983) 2.59
Molecular cloning of the gene for human anti-haemophilic factor IX. Nature (1982) 2.50
Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG. Am J Hum Genet (1989) 2.42
Half chromatid mutations: transmission in humans? Am J Hum Genet (1975) 2.38
A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male. Nature (1987) 2.10
Molybdenum cofactors from molybdoenzymes and in vitro reconstitution of nitrogenase and nitrate reductase. Proc Natl Acad Sci U S A (1977) 1.86
Germinal mosaicism in Duchenne muscular dystrophy. Hum Genet (1988) 1.54
Maternal duplication associated with gene deletion in sporadic hemophilia. Am J Hum Genet (1988) 1.27
A somatic mosaic for haemophilia A detected at the DNA level. Mol Biol Med (1988) 1.21
Molecular analysis of hemophilia A mutations in the Finnish population. Am J Hum Genet (1990) 1.13
Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency. N Engl J Med (1988) 1.09
Mosaicism and sporadic haemophilia: implications for carrier determination. Lancet (1989) 1.05
"Founder" effect in different families with haemophilia B mutation. Lancet (1990) 1.04
The molecular basis of severe hemophilia B in a girl. N Engl J Med (1986) 1.03
Possible gonadal mosaicism in a family with hemoglobin Köln. Johns Hopkins Med J (1980) 0.98
Immunoassays of factor IX antigen using monoclonal antibodies. Br J Haematol (1985) 0.87
Variant of factor IX deficiency in female with 45, X Turner's syndrome. Blood (1970) 0.87
Comparison of phenotypic assessment and the use of two restriction fragment length polymorphisms in the diagnosis of the carrier state in haemophilia B. Br J Haematol (1986) 0.79
Christmas disease (haemophilia B) in a girl with deletion of the short arm of one X-chromosome (functional Turner syndrome). Br J Haematol (1976) 0.78
An association between the common hereditary hemochromatosis mutation and the factor V Leiden allele in a population with thrombosis. Blood (1998) 2.03
Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene. Am J Hum Genet (1990) 1.78
An efficient method for the sequence analysis of oligodeoxyribonucleotides. Anal Biochem (1983) 1.78
Haemophilia B: database of point mutations and short additions and deletions--third edition, 1992. Nucleic Acids Res (1992) 1.36
Haemophilia B: database of point mutations and short additions and deletions--second edition. Nucleic Acids Res (1991) 1.29
Non-cloning amplification of specific DNA fragments from whole genomic DNA digests using DNA 'indexers'. Gene (1994) 1.28
T4 polynucleotide ligase catalyzed joining of short synthetic DNA duplexes at base-paired ends. Biochemistry (1978) 1.23
Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994. Nucleic Acids Res (1994) 1.21
Haemophilia B: database of point mutations and short additions and deletions. Nucleic Acids Res (1990) 1.20
Inherited thrombocytopenia, elevated serum IgA and renal disease: identification as a variant of the Wiskott-Aldrich syndrome. Q J Med (1986) 1.12
Apolipoprotein C-II mRNA levels in primate liver. Induction by estrogen in the human hepatocarcinoma cell line, HepG2. J Biol Chem (1985) 1.11
Synergy between transcription factors DBP and C/EBP compensates for a haemophilia B Leyden factor IX mutation. Nat Genet (1993) 1.03
Association of lupus anticoagulant with severe valvular heart disease in systemic lupus erythematosus. J Rheumatol (1988) 1.02
Linked and intragenic probes for haemophilia A. Lancet (1985) 0.96
Sensitivity of PCR in detecting monoclonal B cell proliferations. J Clin Pathol (1993) 0.92
Recombination between the factor VIII gene and the DXS52 locus gives the most probable genetic order as centromere-fra(X)-DXS15-DXS52-F8C-telomere. Am J Med Genet (1987) 0.92
Multicentric warfarin-induced skin necrosis complicating heparin-induced thrombocytopenia. Am J Hematol (1999) 0.90
Nucleotide sequence of polypyrimidines from cloned mouse DNA as determined by base-specific blockage of exonuclease action. Anal Biochem (1983) 0.90
Defective propeptide processing and abnormal activation underlie the molecular pathology of factor IX Troed-y-Rhiw. Br J Haematol (1989) 0.89
Differential termination of primer extension: a novel, quantifiable method for detection of point mutations. Hum Genet (1992) 0.87
Factor IX Cardiff: a variant factor IX protein that shows abnormal activation is caused by an arginine to cysteine substitution at position 145. Br J Haematol (1989) 0.86
Report of a joint WHO/WFH meeting on the control of haemophilia: carrier detection and prenatal diagnosis. Blood Coagul Fibrinolysis (1993) 0.85
Haemophilia: strategies for carrier detection and prenatal diagnosis. Bull World Health Organ (1993) 0.84
Clearly differentiated and stable chromosome bands produced by a spermine bis-acridine, a bifunctional intercalating analogue of quinacrine. Exp Cell Res (1979) 0.83
A mutation adjacent to the beta cleavage site of factor IX (valine 182 to leucine) results in mild haemophilia Bm. Br J Haematol (1990) 0.83
What is a cure and how do we get there? Haemophilia (2004) 0.82
Cosegregation of von Willebrand factor gene polymorphisms and possible germinal mosaicism in type IIB von Willebrand disease. Blood (1991) 0.81
Gonadal mosaicism in a family with adrenoleukodystrophy: molecular diagnosis of carrier status among daughters of a gonadal mosaic when direct detection of the mutation is not possible. J Inherit Metab Dis (1992) 0.80
Carrier detection of haemophilia A using DNA markers in families with an isolated affected male. Clin Genet (1987) 0.80
Comparison of phenotypic assessment and the use of two restriction fragment length polymorphisms in the diagnosis of the carrier state in haemophilia B. Br J Haematol (1986) 0.79
A complete deletion of the factor IX gene and new TaqI variant in a hemophilia B kindred. Hum Genet (1988) 0.78
Carrier detection and prenatal diagnosis of Pelizaeus-Merzbacher disease using a combination of anonymous DNA polymorphisms and the proteolipid protein (PLP) gene cDNA. Am J Med Genet (1991) 0.78
Prevalence of factor V Leiden and activated protein C resistance in central retinal vein occlusion. Retina (2001) 0.77
Molecular diagnosis of the fragile X [Fra (X)] syndrome: calculation of risks based on flanking DNA markers in small phase-unknown families. Am J Med Genet (1989) 0.76
Absence of a bleeding tendency in severe acquired von Willebrand's disease. The role of platelet von Willebrand factor in maintaining normal hemostasis. Am J Clin Pathol (1989) 0.76
A BstXI polymorphism detected by the factor VIII genomic probe p.482.6 (F8C). Nucleic Acids Res (1989) 0.75
Risk of venous thromboembolism associated with the common hereditary haemochromatosis Hfe gene (C282Y) mutation. Br J Haematol (1999) 0.75
Relapse of acute myelogenous leukemia presenting with extrahepatic obstruction of the biliary tract. Can Med Assoc J (1982) 0.75
Erythroblast multinuclearity in bone marrow and spleen. Congenital dyserythropoietic anemia-like abnormalities without functional evidence of dyserythropoiesis. Arch Pathol Lab Med (1987) 0.75
Lymphoproliferative disease of "LAK cell" precursor large granular lymphocytes in association with celiac disease. Am J Hematol (1993) 0.75
Prolonged thrombocytopenia in post-transfusion purpura (PTP) associated with changes in the crossed immunoelectrophoretic pattern of von Willebrand factor (vWF), circulating immune complexes and endothelial cell cytotoxicity. Br J Haematol (1986) 0.75
Characterization of the original Christmas disease mutation (cysteine 206----serine): from clinical recognition to molecular pathogenesis. Thromb Haemost (1992) 0.75
A simplified procedure for cDNA and genomic library construction using nonpalindromic oligonucleotide adaptors. Biochem Cell Biol (1989) 0.75
Premature stroke in a family with lupus anticoagulant and antiphospholipid antibodies. Stroke (1990) 0.75