Published in Am J Hum Genet on February 01, 1996
The SLC26 gene family of multifunctional anion exchangers. Pflugers Arch (2003) 3.04
Thrombocytopenia-absent radius syndrome: a clinical genetic study. J Med Genet (2002) 1.59
The Finnish Disease Heritage III: the individual diseases. Hum Genet (2003) 1.36
A member of a family of sulfate-activating enzymes causes murine brachymorphism. Proc Natl Acad Sci U S A (1998) 1.26
Metabolon disruption: a mechanism that regulates bicarbonate transport. EMBO J (2005) 1.15
Slc26a9 is inhibited by the R-region of the cystic fibrosis transmembrane conductance regulator via the STAS domain. J Biol Chem (2009) 1.08
Hyposulfatemia, growth retardation, reduced fertility, and seizures in mice lacking a functional NaSi-1 gene. Proc Natl Acad Sci U S A (2003) 1.02
The different roles of aggrecan interaction domains. J Histochem Cytochem (2012) 1.00
Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases. J Med Genet (2009) 0.97
The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family). Pediatr Radiol (2011) 0.95
In vivo Drosophilia genetic model for calcium oxalate nephrolithiasis. Am J Physiol Renal Physiol (2012) 0.89
Dyggve-Melchior-Clausen syndrome: chondrodysplasia resulting from defects in intracellular vesicle traffic. Proc Natl Acad Sci U S A (2008) 0.86
Human genetic disorders and knockout mice deficient in glycosaminoglycan. Biomed Res Int (2014) 0.85
A web tool for finding gene candidates associated with experimentally induced arthritis in the rat. Arthritis Res Ther (2005) 0.80
Abnormal sulfate metabolism in vitamin D-deficient rats. J Clin Invest (1997) 0.80
Protein localization of SLC26A2 (DTDST) in rat kidney. Histochem Cell Biol (2010) 0.78
Achondrogenesis type 1B. J Med Genet (1996) 0.78
Functional analysis of nonsynonymous single nucleotide polymorphisms in human SLC26A9. Hum Mutat (2012) 0.77
From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases. G3 (Bethesda) (2016) 0.77
Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report. BMC Musculoskelet Disord (2010) 0.77
Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene. J Korean Med Sci (2010) 0.77
Characterization of the human renal Na(+)-sulphate cotransporter gene ( NAS1) promoter. Pflugers Arch (2004) 0.77
Atelosteogenesis type 2. J Med Genet (1998) 0.75
Advances in endocrinology. Arch Dis Child (1998) 0.75
Skeletal dysplasias. Arch Dis Child (1998) 0.75
Quantitative film detection of 3H and 14C in polyacrylamide gels by fluorography. Eur J Biochem (1975) 56.72
A genetic map of the mouse suitable for typing intraspecific crosses. Genetics (1992) 8.53
The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell (1994) 5.21
Toward a molecular understanding of skeletal development. Cell (1995) 3.55
Mechanical and physiochemical determinants of the chondrocyte biosynthetic response. J Orthop Res (1988) 1.58
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. Nat Genet (1996) 1.44
Sulfate transport-deficient mutants of Chinese hamster ovary cells. Sulfation of glycosaminoglycans dependent on cysteine. J Biol Chem (1986) 1.34
The lethal osteochondrodysplasias. Adv Hum Genet (1990) 1.28
Diastrophic dwarfism. Medicine (Baltimore) (1972) 1.07
Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II. Am J Med Genet (1990) 0.99
The phenotypic variability of diastrophic dysplasia. J Pediatr (1978) 0.99
Achondrogenesis type I: delineation of further heterogeneity and identification of two distinct subgroups. J Pediatr (1988) 0.98
Atelosteogenesis: evidence for heterogeneity. Pediatr Radiol (1987) 0.94
Sulfate transport in human lung fibroblasts (IMR-90). J Cell Physiol (1985) 0.94
A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB. Am J Hum Genet (1994) 0.92
A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer. Hum Mol Genet (1995) 0.91
Sulphation by cultured cells. Cysteine, cysteinesulphinic acid and sulphite as sources for proteoglycan sulphate. Biochem J (1988) 0.91
Atelosteogenesis type II: sonographic and radiological correlation. Prenat Diagn (1992) 0.90
De la Chapelle dysplasia (atelosteogenesis type II): case report and review of the literature [corrected]. Clin Dysmorphol (1994) 0.87
Cartilage disorders. The importance of being sulphated. Curr Biol (1995) 0.83
Microassay of inorganic sulfate in biological fluids by controlled flow anion chromatography. J Chromatogr (1981) 0.81
Histopathology of fetal diastrophic dysplasia. Am J Med Genet (1995) 0.81
Serum sulfate levels in patients with cystic fibrosis. Clin Chim Acta (1984) 0.80
Molecular classification of cancer: class discovery and class prediction by gene expression monitoring. Science (1999) 83.27
A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature (2001) 42.18
Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet (1996) 39.80
Interpreting patterns of gene expression with self-organizing maps: methods and application to hematopoietic differentiation. Proc Natl Acad Sci U S A (1999) 39.79
Construction of multilocus genetic linkage maps in humans. Proc Natl Acad Sci U S A (1987) 35.83
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature (2002) 28.79
Classification of human lung carcinomas by mRNA expression profiling reveals distinct adenocarcinoma subclasses. Proc Natl Acad Sci U S A (2001) 24.34
Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet (1999) 24.24
Dissecting the regulatory circuitry of a eukaryotic genome. Cell (1998) 23.62
Resolution of quantitative traits into Mendelian factors by using a complete linkage map of restriction fragment length polymorphisms. Nature (1988) 23.48
High-resolution haplotype structure in the human genome. Nat Genet (2001) 20.51
Multiclass cancer diagnosis using tumor gene expression signatures. Proc Natl Acad Sci U S A (2001) 19.30
An SNP map of the human genome generated by reduced representation shotgun sequencing. Nature (2000) 19.19
Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. Science (1998) 18.23
An STS-based map of the human genome. Science (1995) 17.72
Mendelian factors underlying quantitative traits in tomato: comparison across species, generations, and environments. Genetics (1991) 17.40
Linkage disequilibrium in the human genome. Nature (2001) 17.24
On the allelic spectrum of human disease. Trends Genet (2001) 16.26
The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet (2000) 15.19
A gene map of the human genome. Science (1996) 14.32
Restriction fragment length polymorphism linkage map for Arabidopsis thaliana. Proc Natl Acad Sci U S A (1988) 13.85
Identification of genetic factors contributing to heterosis in a hybrid from two elite maize inbred lines using molecular markers. Genetics (1992) 13.63
A genetic linkage map of the human genome. Cell (1987) 13.37
Complete multipoint sib-pair analysis of qualitative and quantitative traits. Am J Hum Genet (1995) 12.78
Positive natural selection in the human lineage. Science (2006) 12.55
A physical map of 30,000 human genes. Science (1998) 12.43
Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science (1987) 12.20
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell (2001) 11.99
Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease. Nat Genet (2001) 11.12
Genomic analysis of metastasis reveals an essential role for RhoC. Nature (2000) 10.11
Systematic detection of errors in genetic linkage data. Genomics (1992) 10.06
Genetic mapping of a gene causing hypertension in the stroke-prone spontaneously hypertensive rat. Cell (1991) 9.99
Ploidy regulation of gene expression. Science (1999) 9.98
Recognition of related proteins by iterative template refinement (ITR). Protein Sci (1994) 9.67
Remodeling of yeast genome expression in response to environmental changes. Mol Biol Cell (2001) 9.63
Strategies for studying heterogeneous genetic traits in humans by using a linkage map of restriction fragment length polymorphisms. Proc Natl Acad Sci U S A (1986) 9.51
A genetic map of the mouse suitable for typing intraspecific crosses. Genetics (1992) 8.53
Human and mouse gene structure: comparative analysis and application to exon prediction. Genome Res (2000) 8.28
Mapping complex genetic traits in humans: new methods using a complete RFLP linkage map. Cold Spring Harb Symp Quant Biol (1986) 8.22
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med (2000) 7.61
Chemosensitivity prediction by transcriptional profiling. Proc Natl Acad Sci U S A (2001) 7.51
Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry's disease. N Engl J Med (2001) 6.94
Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping. Am J Hum Genet (1995) 6.51
Expression analysis with oligonucleotide microarrays reveals that MYC regulates genes involved in growth, cell cycle, signaling, and adhesion. Proc Natl Acad Sci U S A (2000) 6.30
The plasticity of dendritic cell responses to pathogens and their components. Science (2001) 5.58
Research on DNA typing catching up with courtroom application. Am J Hum Genet (1991) 5.28
Diverse signaling pathways activated by growth factor receptors induce broadly overlapping, rather than independent, sets of genes. Cell (1999) 4.97
Determination of ancestral alleles for human single-nucleotide polymorphisms using high-density oligonucleotide arrays. Nat Genet (1999) 4.79
Chromosomal landscape of nucleosome-dependent gene expression and silencing in yeast. Nature (1999) 4.71
Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse. Cell (1993) 4.66
Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouse. Nat Genet (2000) 4.66
A nonparametric approach for mapping quantitative trait loci. Genetics (1995) 4.49
Genome sequence, comparative analysis, and population genetics of the domestic horse. Science (2009) 4.41
Loss-of-heterozygosity analysis of small-cell lung carcinomas using single-nucleotide polymorphism arrays. Nat Biotechnol (2000) 4.10
Analysing complex genetic traits with chromosome substitution strains. Nat Genet (2000) 3.92
Genetic analysis of the fungus, Bremia lactucae, using restriction fragment length polymorphisms. Genetics (1988) 3.92
Faster multipoint linkage analysis using Fourier transforms. J Comput Biol (1998) 3.87
Family-based association study of 76 candidate genes in bipolar disorder: BDNF is a potential risk locus. Brain-derived neutrophic factor. Mol Psychiatry (2002) 3.78
Distinct physiological states of Plasmodium falciparum in malaria-infected patients. Nature (2007) 3.69
Genomewide search in Canadian families with inflammatory bowel disease reveals two novel susceptibility loci. Am J Hum Genet (2000) 3.52
Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis. J Pediatr (1973) 3.44
The search for heterogeneity in insulin-dependent diabetes mellitus (IDDM): linkage studies, two-locus models, and genetic heterogeneity. Am J Hum Genet (1983) 3.23
ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet (2000) 3.17
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet (1995) 2.93
Genetic and clinical heterogeneity in the oral-facial-digital syndromes. J Pediatr (1967) 2.92
Secretory phospholipase Pla2g2a confers resistance to intestinal tumorigenesis. Nat Genet (1997) 2.91
High-resolution genetic mapping of complex traits. Am J Hum Genet (1995) 2.89
Pachydermoperiostosis: an update. Clin Genet (2005) 2.65
Genetic heterogeneity of hyperpepsinogenemic I and normopepsinogenemic I duodenal ulcer disease. Ann Intern Med (1979) 2.61
Disruption of the nuclear hormone receptor RORalpha in staggerer mice. Nature (1996) 2.58
Genome-wide search for asthma susceptibility loci in a founder population. The Collaborative Study on the Genetics of Asthma. Hum Mol Genet (1998) 2.57
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. Nat Genet (1995) 2.55
PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification. Am J Pathol (2001) 2.52
Genomewide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height. Am J Hum Genet (2001) 2.50
Mapping of a gene for type 2 diabetes associated with an insulin secretion defect by a genome scan in Finnish families. Nat Genet (1996) 2.48
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Nat Genet (2000) 2.28
Clinical spectrum of fibroblast growth factor receptor mutations. Hum Mutat (1999) 2.24
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia. Nat Genet (1999) 2.23
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. Nat Genet (1998) 2.14
The G deletion syndromes. J Pediatr (1970) 2.09
Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics (1996) 2.08
Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature. Pediatr Radiol (1988) 2.06
A radiation hybrid map of mouse genes. Nat Genet (2001) 2.03
Cyclosporin A slows collagen triple-helix formation in vivo: indirect evidence for a physiologic role of peptidyl-prolyl cis-trans-isomerase. J Biol Chem (1991) 2.03
Effects of medical research on health care and economy. Science (1999) 1.99
Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. Am J Hum Genet (1999) 1.98
Genetic analysis of non-insulin dependent diabetes mellitus in the GK rat. Nat Genet (1996) 1.96
The mouse pudgy mutation disrupts Delta homologue Dll3 and initiation of early somite boundaries. Nat Genet (1998) 1.96
Two loci on chromosomes 2 and X for premature coronary heart disease identified in early- and late-settlement populations of Finland. Am J Hum Genet (2000) 1.93
A genetic linkage map of 27 loci from PND to FY on the short arm of human chromosome I. Am J Hum Genet (1988) 1.92
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. Am J Hum Genet (1996) 1.89
Cloning of the Vibrio harveyi luciferase genes: use of a synthetic oligonucleotide probe. Proc Natl Acad Sci U S A (1983) 1.88
Effectors of a developmental mitogen-activated protein kinase cascade revealed by expression signatures of signaling mutants. Proc Natl Acad Sci U S A (1999) 1.88
Genetic dissection of autoimmune type I diabetes in the BB rat. Nat Genet (1992) 1.87
Genetic control of serum IgE levels and asthma: linkage and linkage disequilibrium studies in an isolated population. Hum Mol Genet (1997) 1.82
Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature. Am J Med Genet (1996) 1.81
Lower-than-expected linkage disequilibrium between tightly linked markers in humans suggests a role for gene conversion. Am J Hum Genet (2001) 1.80
Identification by fluorescent microscopy of the abnormal chromosomes associated with the G-deletion syndromes. Am J Hum Genet (1973) 1.77