Published in Genomics on August 01, 1990
A U6 snRNA gene with an internal promoter is juxtaposed to an snRNP protein sequence within an intron of a human G protein gene. Nucleic Acids Res (1991) 0.81
Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. Am J Hum Genet (2012) 0.78
An EcoO109 RFLP for the SNRPE gene on chromosome 1. Nucleic Acids Res (1991) 0.75
Identification of a gene that causes primary open angle glaucoma. Science (1997) 8.14
Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell (1993) 5.37
Reactivation of an inactive human X chromosome: evidence for X inactivation by DNA methylation. Science (1981) 5.28
Parameter relations for the Shinnar-Le Roux selective excitation pulse design algorithm [NMR imaging]. IEEE Trans Med Imaging (1991) 4.97
Human p53 gene localized to short arm of chromosome 17. Nature (1986) 4.67
Gene for hereditary retinoblastoma assigned to human chromosome 13 by linkage to esterase D. Science (1983) 4.43
Isolation and regional localization of DNA segments revealing polymorphic loci from human chromosome 13. Am J Hum Genet (1984) 3.86
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat Genet (1999) 3.32
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
Mental retardation associated with "balanced" chromosome rearrangements. Am J Hum Genet (1977) 3.06
Increased levels of mRNAs for tubulin and other flagellar proteins after amputation or shortening of Chlamydomonas flagella. Cell (1980) 2.83
A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell (1993) 2.80
Patient with 13 chromosome deletion: evidence that the retinoblastoma gene is a recessive cancer gene. Science (1983) 2.78
Non-inactivation of an x-chromosome locus in man. Science (1979) 2.74
Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14. Science (1980) 2.72
Differential methylation of hypoxanthine phosphoribosyltransferase genes on active and inactive human X chromosomes. Proc Natl Acad Sci U S A (1984) 2.52
Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. Hum Mol Genet (1994) 2.52
Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. Hum Mol Genet (1995) 2.50
Cellulose acetate electrophoresis of human glucose-6-phosphate dehydrogenase. J Lab Clin Med (1969) 2.49
The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA. Genomics (1991) 2.39
A new probe for the diagnosis of myotonic muscular dystrophy. Science (1987) 2.35
Direct evidence for a bone marrow origin of the alveolar macrophage in man. Science (1976) 2.23
Transformation with DNA from 5-azacytidine-reactivated X chromosomes. Proc Natl Acad Sci U S A (1982) 2.22
Regional assignment of the steroid sulfatase-X-linked ichthyosis locus: implications for a noninactivated region on the short arm of human X chromosome. Proc Natl Acad Sci U S A (1979) 2.13
Linkage analysis of neurofibromatosis (von Recklinghausen disease). J Med Genet (1983) 2.13
The human and rodent intestinal fatty acid binding protein genes. A comparative analysis of their structure, expression, and linkage relationships. J Biol Chem (1987) 2.13
A detailed genetic map of the long arm of chromosome 11. Genomics (1990) 2.11
Human monoamine oxidase A and B genes map to Xp 11.23 and are deleted in a patient with Norrie disease. Genomics (1989) 2.10
Expression of an X-linked gene from an inactive human X chromosome in mouse-human hybrid cells: further evidence for the noninactivation of the steroid sulfatase locus in man. Proc Natl Acad Sci U S A (1980) 2.00
Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange. Cell (1987) 1.99
Maf1p, a negative effector of RNA polymerase III in Saccharomyces cerevisiae. Mol Cell Biol (2001) 1.89
Ataxia-telangiectasia: an interdisciplinary approach to pathogenesis. Medicine (Baltimore) (1991) 1.89
The cell surface antigen locus, MIC2X, escapes X-inactivation. Am J Hum Genet (1984) 1.84
Cell cycle-specific reactivation of an inactive X-chromosome locus by 5-azadeoxycytidine. Proc Natl Acad Sci U S A (1982) 1.84
Camurati-Engelmann disease. Genetics and clinical manifestations with a review of the literature. J Med Genet (1972) 1.83
Juvenile myoclonic epilepsy (JME) may be linked to the BF and HLA loci on human chromosome 6. Am J Med Genet (1988) 1.82
The small nuclear ribonucleoprotein E protein gene contains four introns and has upstream similarities to genes for ribosomal proteins. J Biol Chem (1988) 1.81
Intracellular site of U1 small nuclear RNA processing and ribonucleoprotein assembly. J Cell Biol (1984) 1.81
Human genes involved in lipolysis of plasma lipoproteins: mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21. Genomics (1987) 1.79
Differential expression of steroid sulphatase locus on active and inactive human X chromosome. Nature (1982) 1.75
Complete primary structure of a human plasma membrane Ca2+ pump. J Biol Chem (1988) 1.75
Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis. Am J Hum Genet (1984) 1.73
Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome. N Engl J Med (1984) 1.70
Small nuclear ribonucleoproteins of Drosophila: identification of U1 RNA-associated proteins and their behavior during heat shock. Mol Cell Biol (1982) 1.70
Familial retinoblastoma and chromosome 13 deletion transmitted via an insertional translocation. Science (1981) 1.70
Hormone-sensitive lipase: sequence, expression, and chromosomal localization to 19 cent-q13.3. Science (1988) 1.69
Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor. Hum Mol Genet (2001) 1.67
Extrahepatic portosystemic venous shunt without portal hypertension. Intern Med (1997) 1.64
A reduced power selective adiabatic spin-echo pulse sequence. Magn Reson Med (1991) 1.63
Protein binding sites are conserved in U1 small nuclear RNA from insects and mammals. Proc Natl Acad Sci U S A (1983) 1.63
cDNA cloning of a human autoimmune nuclear ribonucleoprotein antigen. Proc Natl Acad Sci U S A (1985) 1.59
Anal atresia, eye anomalies, and an additional small abnormal acrocentric chromosome (47,XX,mar+): report of a case. J Pediatr (1970) 1.58
Absent thumbs with a ring D2 chromosome: a new deletion syndrome. Am J Hum Genet (1967) 1.55
Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). Hum Mol Genet (1996) 1.54
Bone marrow origin of hepatic macrophages (Kupffer cells) in humans. Science (1978) 1.53
Human catechol O-methyltransferase genetic variation: gene resequencing and functional characterization of variant allozymes. Mol Psychiatry (2004) 1.53
Pericentric inversion of a number 15 chromosome in nine members of one family. Cytogenetics (1970) 1.51
Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome Iq. Am J Hum Genet (1990) 1.48
De novo interstitial deletion in the long arm of chromosome 9: a new chromosome syndrome. J Med Genet (1982) 1.48
Eukaryotic small ribonucleoproteins. Anti-La human autoantibodies react with U1 RNA-protein complexes. J Biol Chem (1984) 1.46
Human sulfotransferase SULT1C1 pharmacogenetics: gene resequencing and functional genomic studies. Pharmacogenetics (2001) 1.46
Huntington disease: linkage analysis with age-of-onset corrections. Am J Med Genet (1980) 1.46
Role of nuclear pools of aminoacyl-tRNA synthetases in tRNA nuclear export. Mol Biol Cell (2001) 1.43
D2 dopamine receptor gene and cigarette smoking: a reward gene? Med Hypotheses (1994) 1.42
Organization of the human lipoprotein lipase gene and evolution of the lipase gene family. Proc Natl Acad Sci U S A (1989) 1.38
Ring 10 chromosome: 46,XX,r10(p15q26). Hum Genet (1978) 1.37
Precursors of U4 small nuclear RNA. J Cell Biol (1984) 1.36
Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements. Cell (1990) 1.36
Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region of chromosome 6. Am J Med Genet (1991) 1.36
Regulation of rat liver 3-hydroxy-3-methylglutaryl coenzyme A synthase and the chromosomal localization of the human gene. J Biol Chem (1986) 1.36
Linkage mapping of 40 randomly isolated liver cDNA clones in the mouse. Genomics (1993) 1.35
A 2'-phosphotransferase implicated in tRNA splicing is essential in Saccharomyces cerevisiae. J Biol Chem (1997) 1.35
Origin of human bone marrow fibroblasts. Br J Haematol (1980) 1.34
A familial syndrome of deafness, alopecia, and hypogonadism. J Pediatr (1973) 1.34
Assignment of the human and mouse prion protein genes to homologous chromosomes. Proc Natl Acad Sci U S A (1986) 1.33
Probable trisomy 22 identified by fluorescent and trypsin-giemsa banding. Ann Genet (1973) 1.33
SLC6A4 variation and citalopram response. Am J Med Genet B Neuropsychiatr Genet (2009) 1.32
RFLP for the human lipoprotein lipase (LPL) gene: HindIII. Nucleic Acids Res (1987) 1.31
D2 dopamine receptor gene and obesity. Int J Eat Disord (1994) 1.30
Close genetic linkage between diabetes mellitus and kidd blood group. Lancet (1981) 1.30
The small nuclear RNAs of Drosophila. J Mol Biol (1984) 1.30
Optimal control solutions to the magnetic resonance selective excitation problem. IEEE Trans Med Imaging (1986) 1.29