Published in Hum Mol Genet on January 01, 1994
The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. Proc Natl Acad Sci U S A (2000) 2.30
Mice deficient in Ext2 lack heparan sulfate and develop exostoses. Development (2005) 1.84
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Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11. Am J Hum Genet (1995) 1.44
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Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. Am J Hum Genet (1997) 1.34
Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11. Am J Hum Genet (1996) 1.23
Gains, losses, and amplifications of DNA sequences evaluated by comparative genomic hybridization in chondrosarcomas. Am J Pathol (1997) 1.06
Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity. Am J Hum Genet (2001) 1.05
Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11. Am J Hum Genet (1995) 1.05
The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans. Genome Res (1997) 1.03
WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2). J Med Genet (1995) 1.01
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Detection of exostosin glycosyltransferase gene mutations in patients with non-hereditary osteochondromas of the mandibular condyle. Mol Clin Oncol (2016) 0.78
Functional Requirements for Heparan Sulfate Biosynthesis in Morphogenesis and Nervous System Development in C. elegans. PLoS Genet (2017) 0.77
Reduced Expression of EXTL2, a Member of the Exostosin (EXT) Family of Glycosyltransferases, in Human Embryonic Kidney 293 Cells Results in Longer Heparan Sulfate Chains. J Biol Chem (2015) 0.76
Identification of a rare case of intra-articular osteochondroma manifesting as three loose bodies in a patient with hereditary multiple osteochondromas: A case report. Oncol Lett (2015) 0.75
Novel mutation of EXT2 identified in a large family with multiple osteochondromas. Mol Med Rep (2016) 0.75
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Abnormal karyotypes in osteochondroma: Case series and literature review. J Orthop (2014) 0.75
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Pathogenic gene screening and mutation detection in a Chinese family with multiple osteochondroma. Genet Test Mol Biomarkers (2012) 0.75
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Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease. J Med Genet (2002) 4.00
Genome-wide association for major depressive disorder: a possible role for the presynaptic protein piccolo. Mol Psychiatry (2008) 3.85
Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination. Am J Med Genet (2001) 3.77
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LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nat Genet (2000) 3.73
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A point mutation in the FMR-1 gene associated with fragile X mental retardation. Nat Genet (1993) 3.58
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Presymptomatic DNA testing and prophylactic surgery in families with a BRCA1 or BRCA2 mutation. Lancet (2000) 2.84
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Rapid antibody test for fragile X syndrome. Lancet (1995) 2.22
Genetic heterogeneity of polycystic kidney disease in Europe. Contrib Nephrol (1992) 2.14
Furin is a subtilisin-like proprotein processing enzyme in higher eukaryotes. Mol Biol Rep (1990) 2.12
Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds. Nat Genet (1995) 2.11
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A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. Am J Hum Genet (1997) 2.01
Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease. Nat Genet (1993) 2.01
The fragile X syndrome. J Med Genet (1998) 2.00
Survival in hereditary breast cancer associated with germline mutations of BRCA2. J Clin Oncol (1999) 1.99
DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism. Neurol Sci (2003) 1.90
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The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination. Oncogene (2000) 1.89
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. Am J Hum Genet (1998) 1.87
High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands. Am J Hum Genet (1999) 1.87
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DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. Neurology (2004) 1.83
An apolipoprotein CIII haplotype protective against hypertriglyceridemia is specified by promoter and 3' untranslated region polymorphisms. Proc Natl Acad Sci U S A (1993) 1.83
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet (2001) 1.83
A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter. Hum Mol Genet (1992) 1.80
Genetic mapping using haplotype, association and linkage methods suggests a locus for severe bipolar disorder (BPI) at 18q22-q23. Nat Genet (1996) 1.76
Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet (1999) 1.76
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. Nat Genet (1999) 1.76
Familial aggregation in frontotemporal dementia. Neurology (1998) 1.76
A polymorphism in the gene for IGF-I: functional properties and risk for type 2 diabetes and myocardial infarction. Diabetes (2001) 1.76
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FTDP-17: an early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation. Ann Neurol (1999) 1.75
Expression of cDNA encoding the human "protective protein" associated with lysosomal beta-galactosidase and neuraminidase: homology to yeast proteases. Cell (1988) 1.73
Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36. Am J Hum Genet (2001) 1.71
Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype. J Med Genet (1993) 1.68
Familial aggregation of parkinsonism in progressive supranuclear palsy. Neurology (2009) 1.68
A new family with the Townes-Brocks syndrome. Clin Genet (1988) 1.66
Use of linkage disequilibrium approaches to map genes for bipolar disorder in the Costa Rican population. Am J Med Genet (1996) 1.65
CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1. Eur J Hum Genet (1995) 1.64
Nonsyndromic hearing impairment is associated with a mutation in DFNA5. Nat Genet (1998) 1.63
Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder. Mol Psychiatry (2010) 1.63
Chloride conductance and genetic background modulate the cystic fibrosis phenotype of Delta F508 homozygous twins and siblings. J Clin Invest (2001) 1.63
MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. Nat Genet (1994) 1.62
Mitochondrial deafness. Clin Genet (2007) 1.61
Characterization and localization of the Huntington disease gene product. Hum Mol Genet (1993) 1.60
Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique. Hum Genet (1997) 1.59
Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22. Brain (2001) 1.59
Positional cloning of a gene involved in hereditary multiple exostoses. Hum Mol Genet (1996) 1.58
Genome-wide association study of obsessive-compulsive disorder. Mol Psychiatry (2012) 1.57
Mental status of females with an FMR1 gene full mutation. Am J Hum Genet (1996) 1.57
A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A). Clin Chim Acta (1990) 1.57
The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q. Nat Genet (1994) 1.56
Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. Hum Mol Genet (1999) 1.54
Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3. Am J Hum Genet (2001) 1.54
L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns. Hum Mol Genet (1998) 1.54
Assessing the feasibility of linkage disequilibrium methods for mapping complex traits: an initial screen for bipolar disorder loci on chromosome 18. Am J Hum Genet (1999) 1.54
The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds. Am J Hum Genet (1991) 1.53
Score test for detecting linkage to quantitative traits. Genet Epidemiol (2002) 1.53
Ipsilateral breast tumour recurrence in hereditary breast cancer following breast-conserving therapy. Eur J Cancer (2004) 1.52