Published in Nature on February 15, 1984
Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms. Proc Natl Acad Sci U S A (1984) 4.22
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
Proposed mechanism of inheritance and expression of the human fragile-X syndrome of mental retardation. Genetics (1987) 2.17
A community study of severe mental retardation in the West Midlands and the importance of the fragile X chromosome in its aetiology. J Med Genet (1985) 1.80
Efficient isolation of X chromosome-specific single-copy probes from a cosmid library of a human X/hamster hybrid-cell line: mapping of new probes close to the locus for X-linked mental retardation. Am J Hum Genet (1987) 1.77
A DNA probe detecting multiple haplotypes of the human Y chromosome. Am J Hum Genet (1986) 1.77
Genetic mapping of DNA segments relative to the locus for the fragile-X syndrome at Xq27.3. Am J Hum Genet (1985) 1.71
Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation. J Med Genet (1992) 1.49
Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation. J Med Genet (1993) 1.40
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
Cytological mapping of the human glucose-6-phosphate dehydrogenase gene distal to the fragile-X site suggests a high rate of meiotic recombination across this site. Proc Natl Acad Sci U S A (1984) 1.30
Genetic mapping of the Xq27-q28 region: new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B families. Am J Hum Genet (1988) 1.10
The human genes for hemophilia A and hemophilia B flank the X chromosome fragile site at Xq27.3. EMBO J (1985) 1.09
A genetic model for neurodevelopmental disease. Curr Opin Neurobiol (2012) 1.05
Molecular genetics of the human X chromosome. J Med Genet (1985) 1.05
The fragile X syndrome in a large family. III. Investigations on linkage of flanking DNA markers with the fragile site Xq27. J Med Genet (1987) 1.04
Linkage analysis of families with fragile-X mental retardation, using a novel RFLP marker (DXS 304). Am J Hum Genet (1989) 0.98
Detailed ordering of markers localizing to the Xq26-Xqter region of the human X chromosome by the use of an interspecific Mus spretus mouse cross. Proc Natl Acad Sci U S A (1987) 0.96
Two progenitor cells for human oogonia inferred from pedigree data and the X-inactivation imprinting model of the fragile-X syndrome. Am J Hum Genet (1990) 0.96
Population genetics of coagulant factor IX: frequencies of two DNA polymorphisms in five ethnic groups. Am J Hum Genet (1987) 0.95
The fragile X syndrome in a large family. I. Cytogenetic and clinical investigations. J Med Genet (1987) 0.92
Mapping the gene for X-linked cataracts and microcornea with facial, dental, and skeletal features to Xp22: an appraisal of the Nance-Horan syndrome. Trans Am Ophthalmol Soc (1989) 0.88
Unaffected carrier males in families with fragile X syndrome. Am J Hum Genet (1985) 0.87
Linkage analysis using multiple Xq DNA polymorphisms in normal families, families with the fragile X syndrome, and other families with X linked conditions. J Med Genet (1987) 0.83
Genetic mapping of two new DNA markers in Xq26-q28 relative to the fragile-X syndrome locus. Am J Hum Genet (1990) 0.79
Fragile (X) expression induced by FUdR is transient and inversely related to levels of thymidylate synthase activity. Am J Hum Genet (1985) 0.78
Postoperative adverse outcomes in intellectually disabled surgical patients: a nationwide population-based study. PLoS One (2011) 0.77
Recently recognized chromosomal defects of clinical importance. Postgrad Med J (1986) 0.75
Abstracts of the meeting of the Clinical Genetics Society. 24-25 April 1985, Birmingham. J Med Genet (1985) 0.75
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
A new member of the immunoglobulin superfamily--CTLA-4. Nature (1987) 5.10
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
Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature (1991) 4.77
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
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
Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron (1997) 3.73
Programmed cell death is affected in the novel mouse mutant Fused toes (Ft). Development (1994) 3.71
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
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
Thyroid nuclear factor 1 (TTF-1) contains a homeodomain and displays a novel DNA binding specificity. EMBO J (1990) 2.97
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
The characterization of the promoter of the gene encoding the p50 subunit of NF-kappa B indicates that it participates in its own regulation. EMBO J (1992) 2.86
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
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
Heparin-induced oligomerization of FGF molecules is responsible for FGF receptor dimerization, activation, and cell proliferation. Cell (1994) 2.61
Organization of coding and intervening sequences in the chicken ovalbumin split gene. Cell (1978) 2.61
DNA probe localization at 18p113 band by in situ hybridization and identification of a small supernumerary chromosome. Hum Genet (1985) 2.59
The chemokine TECK is expressed by thymic and intestinal epithelial cells and attracts double- and single-positive thymocytes expressing the TECK receptor CCR9. Eur J Immunol (2000) 2.58
A novel lysosome-associated membrane glycoprotein, DC-LAMP, induced upon DC maturation, is transiently expressed in MHC class II compartment. Immunity (1998) 2.56
Isolation and characterization of Suv39h2, a second histone H3 methyltransferase gene that displays testis-specific expression. Mol Cell Biol (2000) 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
A new member of the Rho family, Rnd1, promotes disassembly of actin filament structures and loss of cell adhesion. J Cell Biol (1998) 2.36
The ovalbumin gene region: common features in the organisation of three genes expressed in chicken oviduct under hormonal control. Nature (1979) 2.35
Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen. Am J Hum Genet (1988) 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
Cloning and primary sequence of a mouse candidate prohormone convertase PC1 homologous to PC2, Furin, and Kex2: distinct chromosomal localization and messenger RNA distribution in brain and pituitary compared to PC2. Mol Endocrinol (1991) 2.26
Constitutional chromosomal breakage. Hum Genet (1976) 2.24
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
Characterization of the HST-related FGF.6 gene, a new member of the fibroblast growth factor gene family. Oncogene (1989) 2.20
The human PRR2 gene, related to the human poliovirus receptor gene (PVR), is the true homolog of the murine MPH gene. Gene (1995) 2.19
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
Complementary DNA characterization and chromosomal localization of a human gene related to the poliovirus receptor-encoding gene. Gene (1995) 2.11
Friedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes. Am J Hum Genet (1992) 2.10
X-autosome translocations: cytogenetic characteristics and their consequences. Hum Genet (1982) 2.09
Carrier detection of Hemophilia B by using a restriction site polymorphism associated with the coagulation Factor IX gene. J Clin Invest (1984) 2.07
A novel putative receptor protein tyrosine kinase of the met family. Oncogene (1993) 2.06
Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome. Proc Natl Acad Sci U S A (1989) 2.06
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nat Genet (1994) 2.06
TIF1gamma, a novel member of the transcriptional intermediary factor 1 family. Oncogene (1999) 2.05
Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. Nat Genet (1995) 2.03
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
Identification of four novel human genes amplified and overexpressed in breast carcinoma and localized to the q11-q21.3 region of chromosome 17. Genomics (1995) 1.96
Genetic control of diabetes progression. Immunity (1997) 1.95
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
The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region. Nat Genet (1997) 1.88
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
Regional expression of the homeobox gene Nkx-2.2 in the developing mammalian forebrain. Neuron (1992) 1.85
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
Characterization of Spi-B, a transcription factor related to the putative oncoprotein Spi-1/PU.1. Mol Cell Biol (1992) 1.81
Hox-5.1 defines a homeobox-containing gene locus on mouse chromosome 2. Proc Natl Acad Sci U S A (1988) 1.79
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