Published in Am J Med Genet on January 01, 1981
Mucolipidosis III is genetically heterogeneous. Proc Natl Acad Sci U S A (1982) 1.17
Mucolipidosis II and III. The genetic relationships between two disorders of lysosomal enzyme biosynthesis. J Clin Invest (1983) 1.05
Altered molecular size of N-acetylglucosamine 1-phosphotransferase in I-cell disease and pseudo-Hurler polydystrophy. Biochem J (1987) 0.78
Mucolipidoses II and III variants with normal N-acetylglucosamine 1-phosphotransferase activity toward alpha-methylmannoside are due to nonallelic mutations. Am J Hum Genet (1992) 0.78
Quantitative proteome analysis of mouse liver lysosomes provides evidence for mannose 6-phosphate-independent targeting mechanisms of acid hydrolases in mucolipidosis II. Mol Cell Proteomics (2017) 0.75
Sequence, tissue distribution, and chromosomal localization of mRNA encoding a human glucose transporter-like protein. Proc Natl Acad Sci U S A (1988) 7.26
A zinc finger-encoding gene coregulated with c-fos during growth and differentiation, and after cellular depolarization. Cell (1988) 6.62
Molecular genetics of inherited variation in human color vision. Science (1986) 5.28
cDNA sequence and chromosomal localization of human platelet-derived growth factor A-chain and its expression in tumour cell lines. Nature (1986) 4.81
A human amphotropic retrovirus receptor is a second member of the gibbon ape leukemia virus receptor family. Proc Natl Acad Sci U S A (1994) 3.42
A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome. Proc Natl Acad Sci U S A (1999) 3.37
Evidence for a family of human glucose transporter-like proteins. Sequence and gene localization of a protein expressed in fetal skeletal muscle and other tissues. J Biol Chem (1988) 3.18
Mapping the human genome, cloned genes, DNA polymorphisms, and inherited disease. Adv Hum Genet (1982) 3.04
The Brn-3 family of POU-domain factors: primary structure, binding specificity, and expression in subsets of retinal ganglion cells and somatosensory neurons. J Neurosci (1995) 2.94
Nonspecific integration of the HTLV provirus genome into adult T-cell leukaemia cells. Nature (1984) 2.78
Structural organization and chromosomal assignment of the gene encoding endothelin. J Biol Chem (1989) 2.77
Molecular cloning, sequencing, and mapping of EGR2, a human early growth response gene encoding a protein with "zinc-binding finger" structure. Proc Natl Acad Sci U S A (1988) 2.73
Polymorphic human glucose transporter gene (GLUT) is on chromosome 1p31.3----p35. Diabetes (1987) 2.72
The Texas Medication Algorithm Project: development and implementation of the schizophrenia algorithm. Psychiatr Serv (1999) 2.68
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Identification of a new endothelial cell growth factor receptor tyrosine kinase. Oncogene (1991) 2.39
Randomized controlled trial of the use of compensatory strategies to enhance adaptive functioning in outpatients with schizophrenia. Am J Psychiatry (2000) 2.38
The 1985 Catalog of Mapped Genes and report of the Nomenclature Committee. Cytogenet Cell Genet (1985) 2.24
Assignment of the beta-glucuronidase structural gene to the pter leads to q22 region of chromosome 7 in man. Cytogenet Cell Genet (1978) 2.22
Human cardiac myosin heavy chain genes and their linkage in the genome. Nucleic Acids Res (1987) 2.22
A single copy subclone, p1-101, from cosmid 3-3B, defines three RFLPs on 10pter-q23 [HGM9 no. D10S4]. Nucleic Acids Res (1987) 2.12
Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome. Proc Natl Acad Sci U S A (1990) 2.04
The insulin gene is located on chromosome 11 in humans. Nature (1980) 2.03
Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain. Proc Natl Acad Sci U S A (1985) 2.03
EGR3, a novel member of the Egr family of genes encoding immediate-early transcription factors. Oncogene (1991) 2.01
The insulin gene is located on the short arm of chromosome 11 in humans. Diabetes (1981) 2.00
Leukocyte and fibroblast interferon genes are located on human chromosome 9. Proc Natl Acad Sci U S A (1981) 1.98
Brn-3b: a POU domain gene expressed in a subset of retinal ganglion cells. Neuron (1993) 1.88
Calcium buffer injections block fucoid egg development by facilitating calcium diffusion. Proc Natl Acad Sci U S A (1989) 1.87
High-resolution chromosomal localization of human genes for amylase, proopiomelanocortin, somatostatin, and a DNA fragment (D3S1) by in situ hybridization. Proc Natl Acad Sci U S A (1983) 1.87
Genes for growth hormone, chorionic somatommammotropin, and growth hormones-like gene on chromosome 17 in humans. Science (1980) 1.85
Complete amino acid sequence of human cartilage link protein (CRTL1) deduced from cDNA clones and chromosomal assignment of the gene. Genomics (1990) 1.85
The beta-subunit of follicle-stimulating hormone is deleted in patients with aniridia and Wilms' tumour, allowing a further definition of the WAGR locus. Nature (1986) 1.84
A truncated laminin chain homologous to the B2 chain: structure, spatial expression, and chromosomal assignment. J Cell Biol (1992) 1.84
Cloning of the chromosome translocation breakpoint junction of the t(14;19) in chronic lymphocytic leukemia. Proc Natl Acad Sci U S A (1987) 1.75
Multigene family for sarcomeric myosin heavy chain in mouse and human DNA: localization on a single chromosome. Science (1983) 1.74
Comparison of the FilmArray Respiratory Panel and Prodesse real-time PCR assays for detection of respiratory pathogens. J Clin Microbiol (2011) 1.74
Human beta-D-N-acetylhexosaminidases A and B: expression and linkage relationships in somatic cell hybrids. Proc Natl Acad Sci U S A (1974) 1.71
Intrachromosomal genomic instability in human sporadic colorectal cancer measured by genome-wide allelotyping and inter-(simple sequence repeat) PCR. Cancer Res (2001) 1.69
Chromosomal localization of the human apoprotein CI gene and of a polymorphic apoprotein AII gene. Biochem Biophys Res Commun (1984) 1.69
Mapping small DNA sequences by fluorescence in situ hybridization directly on banded metaphase chromosomes. Proc Natl Acad Sci U S A (1990) 1.68
The functional significance of symptomatology and cognitive function in schizophrenia. Schizophr Res (1997) 1.67
Human gamma-chain genes are rearranged in leukaemic T cells and map to the short arm of chromosome 7. Nature (1985) 1.66
Isolation of polymorphic DNA segments from human chromosome 21. Nucleic Acids Res (1985) 1.66
Molecular cloning and chromosomal mapping of DNA rearranged with the parathyroid hormone gene in a parathyroid adenoma. J Clin Invest (1989) 1.64
Human immune interferon gene is located on chromosome 12. J Exp Med (1983) 1.64
Localization of insulin-like growth factor genes to human chromosomes 11 and 12. Nature (1984) 1.58
Positional cloning of a gene involved in hereditary multiple exostoses. Hum Mol Genet (1996) 1.58
Assignment of the pepsinogen gene complex (PGA) to human chromosome region 11q13 by in situ hybridization. Cytogenet Cell Genet (1986) 1.57
Human laminin M chain (merosin): complete primary structure, chromosomal assignment, and expression of the M and A chain in human fetal tissues. J Cell Biol (1994) 1.57
DNA sequence and regional assignment of the human follicle-stimulating hormone beta-subunit gene to the short arm of human chromosome 11. DNA (1987) 1.56
Enhanced levels of insulin-like growth factor messenger RNA in human colon carcinomas and liposarcomas. Cancer Res (1986) 1.55
Linkage-disequilibrium mapping without genotyping. Nat Genet (1998) 1.52
Deletion in chromosome 11p associated with a hepatitis B integration site in hepatocellular carcinoma. Science (1985) 1.51
The Abl-related gene (Arg) nonreceptor tyrosine kinase uses two F-actin-binding domains to bundle F-actin. Proc Natl Acad Sci U S A (2001) 1.49
Hepatitis B virus integration site in hepatocellular carcinoma at chromosome 17;18 translocation. Proc Natl Acad Sci U S A (1986) 1.48
Molecular genetics of Alport syndrome. Kidney Int (1993) 1.48
Cloning and chromosomal assignment of a human cDNA encoding a T cell- and natural killer cell-specific trypsin-like serine protease. Proc Natl Acad Sci U S A (1988) 1.47
Divergently transcribed overlapping genes expressed in liver and kidney and located in the 11p15.5 imprinted domain. Genomics (1998) 1.45
Rearrangement and overexpression of D11S287E, a candidate oncogene on chromosome 11q13 in benign parathyroid tumors. Oncogene (1991) 1.44
Human X-Linked genes regionally mapped utilizing X-autosome translocations and somatic cell hybrids. Proc Natl Acad Sci U S A (1975) 1.44
Tissue factor gene localized to human chromosome 1 (1pter----1p21). Science (1985) 1.43
NUP98-HOXD13 gene fusion in therapy-related acute myelogenous leukemia. Cancer Res (1998) 1.42
Mapping of genes for the human C5a receptor (C5AR), human FMLP receptor (FPR), and two FMLP receptor homologue orphan receptors (FPRH1, FPRH2) to chromosome 19. Genomics (1992) 1.42
Studies on complementation of beta hexosaminidase deficiency in human GM2 gangliosidosis. Am J Hum Genet (1976) 1.41
Human alpha 2-macroglobulin gene is located on chromosome 12. Somat Cell Mol Genet (1985) 1.40
Guidelines for human gene nomenclature. An international system for human gene nomenclature (ISGN, 1987). Cytogenet Cell Genet (1987) 1.40
Cloning of a novel tumor necrosis factor-alpha-inducible primary response gene that is differentially expressed in development and capillary tube-like formation in vitro. J Immunol (1992) 1.40
Characterization of the human and rat myoadenylate deaminase genes. J Biol Chem (1990) 1.40
Somatic cell genetic evidence for X-chromosome linkage of three enzymes in the mouse. Nature (1976) 1.39
Genetics of human-mouse somatic cell hybrids: linkage of human genes for lactate dehydrogenase-A and esterase-A 4 . Proc Natl Acad Sci U S A (1972) 1.38
Localization of the human gene allowing infection by gibbon ape leukemia virus to human chromosome region 2q11-q14 and to the homologous region on mouse chromosome 2. J Virol (1991) 1.37
A model system to study genomic imprinting of human genes. Proc Natl Acad Sci U S A (1998) 1.35
The human TTP protein: sequence, alignment with related proteins, and chromosomal localization of the mouse and human genes. Nucleic Acids Res (1991) 1.35
Human liver alpha-L-fucosidase. Purification, characterization, and immunochemical studies. J Biol Chem (1975) 1.34
Phospholipase C-148: chromosomal location and deletion mapping of functional domains. Cold Spring Harb Symp Quant Biol (1988) 1.33
Mitochondrial malate dehydrogenase and malic enzyme: Mendelian inherited electrophoretic variants in the mouse. Biochem Genet (1970) 1.33
Localization of the human prealbumin gene to chromosome 18. Biochem Biophys Res Commun (1985) 1.32
Human genes for insulin-like growth factors I and II and epidermal growth factor are located on 12q22----q24.1, 11p15, and 4q25----q27, respectively. Cytogenet Cell Genet (1986) 1.32
Do specific neurocognitive deficits predict specific domains of community function in schizophrenia? J Nerv Ment Dis (2000) 1.32
Human nonmuscle myosin heavy chain mRNA: generation of diversity through alternative polyadenylylation. Proc Natl Acad Sci U S A (1990) 1.30
Enzymatic phosphorylation of streptomycin by extracts of streptomycin-producing strains of Streptomyces. J Bacteriol (1969) 1.29
Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. Genomics (1999) 1.29
Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography. Proc Natl Acad Sci U S A (1978) 1.28
A group of type I keratin genes on human chromosome 17: characterization and expression. Mol Cell Biol (1988) 1.27
Clustering of leukocyte and fibroblast interferon genes of human chromosome 9. Science (1982) 1.27
Mapping of aminoacylase-1 and beta-galactosidase-A to homologous regions of human chromosome 3 and mouse chromosome 9 suggests location of additional genes. Am J Hum Genet (1982) 1.27
Hereditary variation of erythrocytic 6-phosphogluconate dehydrogenase. J Lab Clin Med (1966) 1.27
Human chromosomes 6 and 21 are required for sensitivity to human interferon gamma. Proc Natl Acad Sci U S A (1987) 1.25
cDNA cloning and chromosomal assignment of the gene encoding endothelin 3. J Biol Chem (1989) 1.25
Genetic and phylogenetic variation in the different molecular forms of mammalian erythrocyte carbonic anhydrases. Ann N Y Acad Sci (1968) 1.25
Autosomal control of an electrophoretic variant of glucose-6-phosphate dehydrogenase in the mouse (Mus musculus). Genetics (1968) 1.24
Slow calcium waves accompany cytokinesis in medaka fish eggs. J Cell Biol (1991) 1.24
Human metallothionein genes are clustered on chromosome 16. Proc Natl Acad Sci U S A (1984) 1.23
Genes for beta chain of human T-cell antigen receptor map to regions of chromosomal rearrangement in T cells. Science (1985) 1.23
DNA polymorphic loci mapped to human chromosomes 3, 5, 9, 11, 17, 18, and 22. Proc Natl Acad Sci U S A (1984) 1.22
Accumulation of streptomycin-phosphate in cultures of streptomycin producers grown on a high-phosphate medium. J Bacteriol (1970) 1.22
Ganglioside GM2 N-acetyl-beta-D-galactosaminidase and asialo GM2 (GA2) N-acetyl-beta-D-galactosaminidase; studies in human skin fibroblasts. Clin Genet (1977) 1.21