Published in J Clin Invest on May 01, 1984
Gene deletions correlate with the development of alloantibodies in von Willebrand disease. J Clin Invest (1987) 3.73
Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome. Am J Hum Genet (1988) 2.97
Fatal leukemia in interleukin 15 transgenic mice follows early expansions in natural killer and memory phenotype CD8+ T cells. J Exp Med (2001) 2.96
The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency. Proc Natl Acad Sci U S A (1985) 2.88
The human ubiquitin gene family: structure of a gene and pseudogenes from the Ub B subfamily. Nucleic Acids Res (1987) 2.11
Carrier detection in haemophilia B using two further intragenic restriction fragment length polymorphisms. Nucleic Acids Res (1984) 2.00
Genetic analysis of the fragile-X mental retardation syndrome with two flanking polymorphic DNA markers. Proc Natl Acad Sci U S A (1986) 1.34
Mapping of a gene for long QT syndrome to chromosome 4q25-27. Am J Hum Genet (1995) 1.29
Homologies between X and Y chromosomes detected by DNA probes: localisation and evolution. Nucleic Acids Res (1985) 1.13
Extremely high frequencies of alpha-globin gene deletion in Madang and on Kar Kar Island, Papua New Guinea. Am J Hum Genet (1985) 1.06
Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences. J Clin Invest (1991) 1.03
Haplotypes of the coagulation factor XIII A subunit locus in normal and deficient subjects. Am J Hum Genet (1988) 1.00
Unequal crossover generates variation in ubiquitin coding unit number at the human UbC polyubiquitin locus. Am J Hum Genet (1989) 0.99
Population genetics of coagulant factor IX: frequencies of two DNA polymorphisms in five ethnic groups. Am J Hum Genet (1987) 0.95
A linkage and physical map of chromosome 22, and some applications to gene mapping. Am J Hum Genet (1988) 0.93
Hemophilia B (Christmas disease) variants and carrier detection analyzed by DNA probes. J Clin Invest (1987) 0.89
Monoclonal antibodies to coagulation factor IX define a high-frequency polymorphism by immunoassays. Am J Hum Genet (1985) 0.87
Isolation of novel non-HLA gene fragments from the hemochromatosis region (6p21.3) by cDNA hybridization selection. Am J Hum Genet (1994) 0.86
Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes. BMC Med Genet (2013) 0.84
Sequence variation data of F8 and F9 genes in functionally validated control individuals: implications on the molecular diagnosis of hemophilia. Blood Res (2013) 0.78
Application of three intragenic DNA polymorphisms for carrier detection in haemophilia B. J Med Genet (1986) 0.77
Prenatal diagnosis of haemophilia B in the first trimester. J Med Genet (1987) 0.75
Molecular biology in medicine. Postgrad Med J (1992) 0.75
Method for detection of specific RNAs in agarose gels by transfer to diazobenzyloxymethyl-paper and hybridization with DNA probes. Proc Natl Acad Sci U S A (1977) 40.24
Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation. Proc Natl Acad Sci U S A (1978) 16.54
Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. Nature (1982) 9.47
Detection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides. Proc Natl Acad Sci U S A (1983) 7.52
Isolation and characterization of a cDNA coding for human factor IX. Proc Natl Acad Sci U S A (1982) 3.14
A sensitive new prenatal test for sickle-cell anemia. N Engl J Med (1982) 2.91
Improved detection of the sickle mutation by DNA analysis: application to prenatal diagnosis. N Engl J Med (1982) 2.64
Gene deletions in patients with haemophilia B and anti-factor IX antibodies. Nature (1983) 2.59
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. Nucleic Acids Res (1983) 2.56
Molecular cloning of the gene for human anti-haemophilic factor IX. Nature (1982) 2.50
Restriction fragment length polymorphism associated with the pro alpha 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta. J Clin Invest (1983) 2.50
Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus). Proc Natl Acad Sci U S A (1984) 2.23
Characterisation and use of an intragenic polymorphic marker for detection of carriers of haemophilia B (factor IX deficiency). Lancet (1984) 2.08
A nucleotide change at a splice junction in the human beta-globin gene is associated with beta 0-thalassemia. Proc Natl Acad Sci U S A (1981) 1.93
Identification of the molecular defect in factor IX Chapel Hill: substitution of histidine for arginine at position 145. Proc Natl Acad Sci U S A (1983) 1.57
Direct gene analysis of chorionic villi: A possible technique for first-trimester antenatal diagnosis of haemoglobinopathies. Lancet (1981) 1.50
Prenatal diagnosis of sickle-cell anemia in the first trimester of pregnancy. N Engl J Med (1983) 1.35
Hemophilia B: characterization of genetic variants and detection of carriers. Blood (1977) 1.20
Antenatal diagnosis of the haemoglobin disorders by analysis of foetal DNA. Mol Biol Med (1983) 1.01
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science (1996) 11.59
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science (1991) 7.16
Ovalbumin gene is split in chicken DNA. Nature (1977) 7.05
Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med (1996) 6.57
HIV F/3' orf encodes a phosphorylated GTP-binding protein resembling an oncogene product. Nature (1987) 5.45
Altered chloride ion channel kinetics associated with the delta F508 cystic fibrosis mutation. Nature (1992) 5.45
Chromogenic identification of genetic regulatory signals in Bacillus subtilis based on expression of a cloned Pseudomonas gene. Proc Natl Acad Sci U S A (1983) 5.33
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature (1993) 5.05
DNA methylation: organ specific variations in the methylation pattern within and around ovalbumin and other chicken genes. Nucleic Acids Res (1979) 4.81
The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nat Genet (1993) 4.57
New versatile cloning and sequencing vectors based on bacteriophage M13. Gene (1983) 4.55
Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms. Proc Natl Acad Sci U S A (1984) 4.22
Human endothelial cell growth factor: cloning, nucleotide sequence, and chromosome localization. Science (1986) 4.17
PPAR-alpha and PPAR-gamma activators induce cholesterol removal from human macrophage foam cells through stimulation of the ABCA1 pathway. Nat Med (2001) 4.17
Alpha-amanitin: a specific inhibitor of one of two DNA-pendent RNA polymerase activities from calf thymus. Biochem Biophys Res Commun (1970) 4.16
The ovalbumin gene family: structure of the X gene and evolution of duplicated split genes. Cell (1980) 4.14
T lymphocyte-directed gene therapy for ADA- SCID: initial trial results after 4 years. Science (1995) 3.87
Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron (1997) 3.73
A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet (1996) 3.67
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature (1991) 3.59
The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif. EMBO J (2001) 3.42
Report of the committee on the genetic constitution of the X chromosome. Cytogenet Cell Genet (1989) 3.37
Expression of rabies virus glycoprotein from a recombinant vaccinia virus. Nature (1984) 3.32
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet (1996) 3.26
Altered levels of laminin receptor mRNA in various human carcinoma cells that have different abilities to bind laminin. Proc Natl Acad Sci U S A (1986) 3.21
Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. Nature (1996) 3.21
Point mutation in FGF receptor eliminates phosphatidylinositol hydrolysis without affecting mitogenesis. Nature (1992) 3.13
A tyrosine-phosphorylated carboxy-terminal peptide of the fibroblast growth factor receptor (Flg) is a binding site for the SH2 domain of phospholipase C-gamma 1. Mol Cell Biol (1991) 3.13
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet (1997) 3.11
Cloning and expression of two distinct high-affinity receptors cross-reacting with acidic and basic fibroblast growth factors. EMBO J (1990) 3.10
Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs. Lancet (1985) 3.08
The ovalbumin gene family: hormonal control of X and Y gene transcription and mRNA accumulation. Cell (1981) 2.91
BEK and FLG, two receptors to members of the FGF family, are amplified in subsets of human breast cancers. Oncogene (1991) 2.89
The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency. Proc Natl Acad Sci U S A (1985) 2.88
Protection from rabies by a vaccinia virus recombinant containing the rabies virus glycoprotein gene. Proc Natl Acad Sci U S A (1984) 2.85
Identification of six novel autophosphorylation sites on fibroblast growth factor receptor 1 and elucidation of their importance in receptor activation and signal transduction. Mol Cell Biol (1996) 2.80
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet (1997) 2.77
cDNA cloning and expression of a hamster alpha-thrombin receptor coupled to Ca2+ mobilization. FEBS Lett (1991) 2.70
Origin of the expansion mutation in myotonic dystrophy. Nat Genet (1993) 2.70
Report of the Committee on Human Gene Mapping by Recombinant DNA Techniques. Cytogenet Cell Genet (1985) 2.70
Monogenic causes of X-linked mental retardation. Nat Rev Genet (2001) 2.68
Large-scale eradication of rabies using recombinant vaccinia-rabies vaccine. Nature (1992) 2.67
Frequent factor II G20210A mutation in idiopathic portal vein thrombosis. Gastroenterology (1999) 2.66
Organization of coding and intervening sequences in the chicken ovalbumin split gene. Cell (1978) 2.61
Heparin-induced oligomerization of FGF molecules is responsible for FGF receptor dimerization, activation, and cell proliferation. Cell (1994) 2.61
DNA probe localization at 18p113 band by in situ hybridization and identification of a small supernumerary chromosome. Hum Genet (1985) 2.59
Linker tailing: unphosphorylated linker oligonucleotides for joining DNA termini. DNA (1984) 2.56
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. Nucleic Acids Res (1983) 2.56
Isolation and characterization of cDNA clones for human skeletal muscle alpha actin. Nucleic Acids Res (1983) 2.45
The ovalbumin gene region: common features in the organisation of three genes expressed in chicken oviduct under hormonal control. Nature (1979) 2.35
Defective platelet aggregation and increased resistance to thrombosis in purinergic P2Y(1) receptor-null mice. J Clin Invest (1999) 2.34
Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form. Nat Genet (1995) 2.33
DNA methylation: correlation with DNase I sensitivity of chicken ovalbumin and conalbumin chromatin. Nucleic Acids Res (1979) 2.31
Adenovirus as an expression vector in muscle cells in vivo. Proc Natl Acad Sci U S A (1992) 2.30
Human type III collagen gene expression is coordinately modulated with the type I collagen genes during fibroblast growth. Biochemistry (1986) 2.28
Close linkage of fragile X-mental retardation syndrome to haemophilia B and transmission through a normal male. Nature (1984) 2.28
Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus). Proc Natl Acad Sci U S A (1984) 2.23
Rapid antibody test for fragile X syndrome. Lancet (1995) 2.22
A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P. Proc Natl Acad Sci U S A (2001) 2.17
Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis. Nature (1991) 2.13
Delta-beta-thalassemia is due to a gene deletion. Cell (1976) 2.12
Friedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes. Am J Hum Genet (1992) 2.10
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nat Genet (1994) 2.06
Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. Nat Genet (1995) 2.03
Cell-free synthesis of enterotoxin of E. coli from a cloned gene. Nature (1980) 2.02
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. Ann Neurol (1999) 2.02
Hypoxia induces the expression of the pro-apoptotic gene BNIP3. Cell Death Differ (2001) 2.01
Receptor for acidic fibroblast growth factor is related to the tyrosine kinase encoded by the fms-like gene (FLG). Proc Natl Acad Sci U S A (1989) 1.97
A DNA fragment from the human X chromosome short arm which detects a partially homologous sequence on the Y chromosomes long arm. Nucleic Acids Res (1984) 1.93
Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome. Hum Genet (1986) 1.92
Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway. Hum Mol Genet (2000) 1.92
Dax1 antagonizes Sry action in mammalian sex determination. Nature (1998) 1.88
A cellular model that recapitulates major pathogenic steps of Huntington's disease. Hum Mol Genet (1998) 1.87
A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation. Nat Genet (1999) 1.87
Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families. Neurology (1993) 1.84
Human epidermal Langerhans cells cointernalize by receptor-mediated endocytosis "nonclassical" major histocompatibility complex class I molecules (T6 antigens) and class II molecules (HLA-DR antigens). Proc Natl Acad Sci U S A (1987) 1.82
Synthetic alpha-thrombin receptor peptides activate G protein-coupled signaling pathways but are unable to induce mitogenesis. Mol Biol Cell (1992) 1.81
Additional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium with Friedreich ataxia. Proc Natl Acad Sci U S A (1990) 1.78
Polyglutamine-containing proteins in schizophrenia. Mol Psychiatry (1999) 1.77
Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations. Proc Natl Acad Sci U S A (1997) 1.76
Long-term antithrombotic protection by in vivo depletion of platelet glycoprotein VI in mice. J Exp Med (2001) 1.75
Alternative splicing of exon 14 determines nuclear or cytoplasmic localisation of fmr1 protein isoforms. Hum Mol Genet (1996) 1.74
Molecular characterization of a 23-kilodalton major antigen secreted by Toxoplasma gondii. Proc Natl Acad Sci U S A (1989) 1.73
A specific inhibitor of cysteine proteases impairs a Vif-dependent modification of human immunodeficiency virus type 1 Env protein. J Virol (1991) 1.72
MTM1 mutations in X-linked myotubular myopathy. Hum Mutat (2000) 1.72
A 230kb cosmid walk in the Duchenne muscular dystrophy gene: detection of a conserved sequence and of a possible deletion prone region. Nucleic Acids Res (1987) 1.72