Published in Exp Cell Res on March 01, 1975
Rates of aggregation, loss of anchorage dependence, and tumorigenicity of cultured cells. Proc Natl Acad Sci U S A (1977) 1.11
Phenotypic changes and loss of N-CAM-mediated adhesion in transformed embryonic chicken retinal cells. J Cell Biol (1984) 1.05
Desmosome development in an in vitro model. J Cell Biol (1980) 1.00
A requirement for trypsin-sensitive cell-surface components for cell-cell interactions of embryonic neural retina cells. J Cell Biol (1977) 0.97
Alteration of neural cell adhesion molecule (N-CAM) expression after neuronal cell transformation by Rous sarcoma virus. Proc Natl Acad Sci U S A (1984) 0.96
Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am J Hum Genet (1996) 2.88
Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation. J Clin Invest (1998) 2.68
Developmental changes in heparan sulfate expression: in situ detection with mAbs. J Cell Biol (1992) 2.61
Distinct haematological disorder with deletion of long arm of no. 5 chromosome. Nature (1974) 2.56
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros (2008) 2.56
Primary amines inhibit recycling of alpha 2M receptors in fibroblasts. Cell (1980) 2.40
A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew. J Med Genet (1990) 2.30
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). Nat Genet (1997) 2.30
Predominance of beta-catenin mutations and beta-catenin dysregulation in sporadic aggressive fibromatosis (desmoid tumor). Oncogene (1999) 2.10
Collagen reduces glycosaminoglycan degradation by cultured mammary epithelial cells: possible mechanism for basal lamina formation. Proc Natl Acad Sci U S A (1979) 2.05
Marginal zone B-cell lymphomas of different sites share similar cytogenetic and morphologic features. Blood (1996) 2.02
Dependence of salivary epithelial morphology and branching morphogenesis upon acid mucopolysaccharide-protein (proteoglycan) at the epithelial surface. J Cell Biol (1972) 1.94
Molecular cloning of a phosphatidylinositol-anchored membrane heparan sulfate proteoglycan from human lung fibroblasts. J Cell Biol (1990) 1.88
Prediction of psychological functioning one year after the predictive test for Huntington's disease and impact of the test result on reproductive decision making. J Med Genet (1996) 1.84
Huntington disease: no evidence for locus heterogeneity. Genomics (1989) 1.70
Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A. Am J Hum Genet (1998) 1.66
Basal lamina of embryonic salivary epithelia. Production by the epithelium and role in maintaining lobular morphology. J Cell Biol (1977) 1.61
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood (1995) 1.59
Correlations between triplet repeat expansion and clinical features in Huntington's disease. Arch Neurol (1995) 1.59
Linkage analysis in three families with nonspecific X-linked mental retardation. Am J Med Genet (1996) 1.59
Basal lamina of embryonic salivary epithelia. Nature of glycosaminoglycan and organization of extracellular materials. J Cell Biol (1977) 1.52
Molecular cloning of amphiglycan, a novel integral membrane heparan sulfate proteoglycan expressed by epithelial and fibroblastic cells. J Cell Biol (1992) 1.51
Predictive testing for Huntington's disease: risk perception, reasons for testing and psychological profile of test applicants. Genet Couns (1995) 1.51
Multiple distinct membrane heparan sulfate proteoglycans in human lung fibroblasts. J Biol Chem (1989) 1.48
Philadelphia chromosome-positive chronic myelogenous leukemia in treated Hodgkin's disease. Cancer Genet Cytogenet (1990) 1.45
The basal lamina of the postnatal mammary epithelium contains glycosaminoglycans in a precise ultrastructural organization. Dev Biol (1980) 1.45
Demonstration of an alpha2-macroglobulin receptor in human fibroblasts, absent in tumor-derived cell lines. J Biol Chem (1979) 1.45
t(1;19) without detectable E2A rearrangements in two t(14;18)-positive lymphoma/leukemia cases. Genes Chromosomes Cancer (1994) 1.41
A specific hepatic transfer RNA for phosphoserine. Proc Natl Acad Sci U S A (1970) 1.40
Progress in birth defects research. Calif Med (1970) 1.40
Non-syndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairean pedigree. Eur J Hum Genet (1996) 1.40
Correlation of cytogenetic patterns and clinicobiological features in adult acute myeloid leukemia expressing lymphoid markers. Blood (1992) 1.39
TP53 mutations are frequent in malignant NF1 tumors. Genes Chromosomes Cancer (1994) 1.37
Uptake and degradation of alpha2-macroglobulin-protease complexes in human cells in culture. Exp Cell Res (1978) 1.35
Hereditary macrothrombocytopathia, nephritis and deafness. Am J Med (1972) 1.34
Attitudes towards predictive testing in Huntington's disease: a recent survey in Belgium. J Med Genet (1987) 1.34
Differential expression of cell surface heparan sulfate proteoglycans in human mammary epithelial cells and lung fibroblasts. J Biol Chem (1992) 1.33
Cell surface heparan sulfate proteoglycans from human vascular endothelial cells. Core protein characterization and antithrombin III binding properties. J Biol Chem (1992) 1.32
Detection of bacterial and mycoplasma contamination in cell cultures by polymerase chain reaction. FEMS Microbiol Lett (1992) 1.31
Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita. Am J Hum Genet (1997) 1.25
Philadelphia chromosome-positive acute myeloid leukemia: cytoimmunologic and cytogenetic features. Haematologica (1997) 1.23
Rapid DNA typing of class II HLA antigens using the polymerase chain reaction and reverse dot blot hybridization. Tissue Antigens (1993) 1.22
Acid mucopolysaccharide (glycosaminoglycan) at the epithelial-mesenchymal interface of mouse embryo salivary glands. J Cell Biol (1972) 1.22
Intra- and extracellular control of epithelial morphogenesis. Symp Soc Dev Biol (1970) 1.21
Established cell lines used in cystic fibrosis research. J Cyst Fibros (2004) 1.21
Distribution of the beta 1 subgroup of the integrins in human cells and tissues. J Histochem Cytochem (1989) 1.20
Relationship of transformation, cell density, and growth control to the cellular distribution of newly synthesized glycosaminoglycan. J Cell Biol (1976) 1.20
Functional modifications of alpha 2-macroglobulin by primary amines. I. Characterization of alpha 2 M after derivatization by methylamine and by factor XIII. J Biol Chem (1981) 1.20
Characteristic pattern of chromosomal gains and losses in marginal zone B cell lymphoma detected by comparative genomic hybridization. Leukemia (1997) 1.19
MASA syndrome: new clinical features and linkage analysis using DNA probes. J Med Genet (1990) 1.19
Prenatal diagnosis in CDG1 families: beware of heterogeneity. Eur J Hum Genet (1998) 1.19
Forensic medicine and the polymerase chain reaction technique. J Med Genet (1993) 1.18
X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28. J Med Genet (1991) 1.16
Spatial and temporal changes in the expression of fibroglycan (syndecan-2) during mouse embryonic development. Development (1993) 1.16
Quadriceps and grip strength are related to vitamin D receptor genotype in elderly nonobese women. J Bone Miner Res (1997) 1.16
Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells. Hum Mol Genet (1997) 1.15
Heparan sulfate proteoglycans of human lung fibroblasts. Structural heterogeneity of the core proteins of the hydrophobic cell-associated forms. J Biol Chem (1987) 1.13
The preservation and regeneration of cilia on human nasal epithelial cells cultured in vitro. Arch Otorhinolaryngol (1989) 1.13
D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis. Neurology (1996) 1.12
Genetic testing and quality control in diagnostic laboratories. Nat Genet (2000) 1.10
P190 BCR/ABL transcript in a case of Philadelphia-positive multiple myeloma. Leukemia (1990) 1.07
Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene. Genomics (1993) 1.07
Growth properties and in vitro life span of Alzheimer disease and Down syndrome fibroblasts. A blind study. Mech Ageing Dev (1990) 1.06
Recommendations for quality improvement in genetic testing for cystic fibrosis. European Concerted Action on Cystic Fibrosis. Eur J Hum Genet (2000) 1.06
Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS. J Med Genet (1995) 1.05
Identification of a 64 kDa heparan sulphate proteoglycan core protein from human lung fibroblast plasma membranes with a monoclonal antibody. Biochem J (1987) 1.05
Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator. Hum Mol Genet (1998) 1.05
The motivation of at-risk individuals and their partners in deciding for or against predictive testing for Huntington's disease. Clin Genet (1989) 1.05
Collagen synthesis during epitheliomesenchymal interactions. Dev Biol (1970) 1.04
Quantitative variation in serine transfer ribonucleic acid during estrogen-induced phosphoprotein synthesis in rooster liver. Biochemistry (1969) 1.04
Regional localization of two genes for nonspecific X-linked mental retardation to Xp22.3-p22.2 (MRX49) and Xp11.3-p11.21 (MRX50). Am J Med Genet (1997) 1.04
The enzymatic conversion of glutaminyl-tRNA to pyrrolidone carboxylate-tRNA. Biochem Biophys Res Commun (1968) 1.03
Matrix-associated heparan sulfate proteoglycan: core protein-specific monoclonal antibodies decorate the pericellular matrix of connective tissue cells and the stromal side of basement membranes. J Cell Biol (1989) 1.03
Primary role of the HLA class II DRB1*0301 allele in Graves disease. Am J Med Genet (2000) 1.03
Heparan sulfate proteoglycan from the extracellular matrix of human lung fibroblasts. Isolation, purification, and core protein characterization. J Biol Chem (1988) 1.02
Functional modifications of alpha 2-macroglobulin by primary amines. Kinetics of inactivation of alpha 2-macroglobulin by methylamine, and formation of anomalous complexes with trypsin. Biochem J (1982) 1.02
The core protein of the matrix-associated heparan sulfate proteoglycan binds to fibronectin. J Biol Chem (1990) 1.00
Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele. J Clin Invest (1995) 1.00
Genetic heterogeneity in Rieger eye malformation. J Med Genet (1994) 1.00
Inhibition of volume-regulated anion channels by expression of the cystic fibrosis transmembrane conductance regulator. J Physiol (1999) 1.00
Mantle cell lymphoma: a clinicopathological study of 55 cases. Histopathology (1995) 1.00
Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome. Hum Mutat (1996) 0.99
CFTR haplotype backgrounds on normal and mutant CFTR genes. Hum Mol Genet (1994) 0.99
PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13. Genomics (1997) 0.99
A monoclonal antibody to a neo-antigen on alpha 2-macroglobulin complexes inhibits receptor-mediated endocytosis. J Immunol (1981) 0.98
Histiocyte-rich B-cell lymphoma. A distinct clinicopathologic entity possibly related to lymphocyte predominant Hodgkin's disease, paragranuloma subtype. Am J Surg Pathol (1992) 0.98
Incorporation of dITP or 7-deaza dGTP during PCR improves sequencing of the product. Nucleic Acids Res (1993) 0.97
Membrane-associated chondroitin sulfate proteoglycans of human lung fibroblasts. J Cell Biol (1989) 0.97
Association between XV2c/CS7/KM19/D9 haplotypes and the delta F508 mutation. A study of 57 Belgian families. Hum Genet (1990) 0.96
In vitro cultivation of human tumor tissues. Oncology (1975) 0.96
A stigmatizing effect of the carrier status for cystic fibrosis? Clin Genet (1994) 0.96
Cultured human fibroblasts contain a large pool of precursor beta 1-integrin but lack an intracellular pool of mature subunit. Eur J Biochem (1991) 0.96
Unusual molecular findings in autosomal recessive spinal muscular atrophy. J Med Genet (1996) 0.96
Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence. Hum Mutat (1999) 0.96
Familial juvenile focal amyotrophy of the upper extremity (Hirayama disease). Superoxide dismutase 1 genotype and activity. Arch Neurol (1997) 0.95
Cytochalasin B: lack of effect on mucopolysaccharide synthesis and selective alterations in precursor uptake. Proc Natl Acad Sci U S A (1972) 0.95
In vitro cultivation of human tumor tissues. II. Morphological and virological characterization of three cell lines. Oncology (1978) 0.95
The receptor-binding domain of human alpha 2-macroglobulin. Isolation after limited proteolysis with a bacterial proteinase. J Biol Chem (1986) 0.95