Regional assignment of 30 expressed sequence tags on human chromosome 7 using a somatic cell hybrid panel.

PubWeight™: 0.75‹?›

🔗 View Article (PMID 8595890)

Published in Genomics on November 01, 1995

Authors

R J Patel1, T J Keen, K H Grzeschik, W C Nierman, P Hayes, S S Bhattacharya, C F Inglehearn

Author Affiliations

1: Department of Molecular Genetics, Institute of Ophthalmology, London, United Kingdom.

Articles by these authors

DNA sequence of both chromosomes of the cholera pathogen Vibrio cholerae. Nature (2000) 19.93

The precursor of Alzheimer's disease amyloid A4 protein resembles a cell-surface receptor. Nature (1987) 17.08

Sequence and analysis of chromosome 2 of the plant Arabidopsis thaliana. Nature (1999) 8.04

Epidemic listeriosis associated with Mexican-style cheese. N Engl J Med (1988) 7.75

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet (2000) 7.20

Report of the Committee on the Genetic Constitution of Chromosomes 10, 11, and 12. Cytogenet Cell Genet (1985) 5.01

The skeletal muscle chloride channel in dominant and recessive human myotonia. Science (1992) 4.28

The genetics of childhood cataract. J Med Genet (2000) 3.99

Parameters of human immunodeficiency virus infection of human cervical tissue and inhibition by vaginal virucides. J Virol (2000) 3.68

Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell (1997) 3.42

Evolution of sensory complexity recorded in a myxobacterial genome. Proc Natl Acad Sci U S A (2006) 3.35

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families. Nature (1991) 3.25

A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). Mol Cell (2001) 3.07

Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy. Nat Genet (2000) 3.00

A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p. Nat Genet (1993) 2.97

Differential expression of myogenic determination genes in muscle cells: possible autoactivation by the Myf gene products. EMBO J (1989) 2.88

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Nat Genet (2000) 2.85

The role of risk and benefit perception in informed consent for surgery. Med Decis Making (2001) 2.76

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). Nat Genet (1999) 2.75

A quantitative assay for bacterial RNA polymerases. J Biol Chem (1979) 2.70

Report of the committee on the genetic constitution of chromosome 20. Cytogenet Cell Genet (1990) 2.67

A molecular, isozyme and morphological map of the barley (Hordeum vulgare) genome. Theor Appl Genet (1993) 2.66

Cytovillin, a microvillar Mr 75,000 protein. cDNA sequence, prokaryotic expression, and chromosomal localization. J Biol Chem (1989) 2.61

Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. Nature (1984) 2.52

Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). Hum Mol Genet (2001) 2.48

RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections. J Med Genet (2003) 2.45

Chromosome localization in normal human cells and neuroblastomas of a gene related to c-myc. Nature (1984) 2.32

Regional mapping of six cloned DNA sequences on human chromosome 7. Am J Hum Genet (1986) 2.26

Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus). Proc Natl Acad Sci U S A (1984) 2.23

Hepatitis B virus DNA integration in a sequence homologous to v-erb-A and steroid receptor genes in a hepatocellular carcinoma. Nature (1986) 2.21

Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. Am J Hum Genet (2001) 2.19

Sensitive detection of trypanosomes in tsetse flies by DNA amplification. Int J Parasitol (1992) 2.19

Visual impairment in nursing home residents: the Blue Mountains Eye Study. Med J Aust (1997) 2.17

Sequence and analysis of chromosome 3 of the plant Arabidopsis thaliana. Nature (2000) 2.17

Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa. Nat Genet (1999) 2.13

Prevalence of AIPL1 mutations in inherited retinal degenerative disease. Mol Genet Metab (2000) 2.07

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

Simple repeat sequences on the human Y chromosome are equally polymorphic as their autosomal counterparts. Hum Genet (1992) 1.94

A long-range restriction map of the human chromosome 19q13 region: close physical linkage between CKMM and the ERCC1 and ERCC2 genes. Am J Hum Genet (1990) 1.94

Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy. Arch Ophthalmol (1998) 1.93

Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome. Hum Genet (1986) 1.92

Mouse BAC ends quality assessment and sequence analyses. Genome Res (2001) 1.89

A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa. Am J Hum Genet (1991) 1.88

Sequence and analysis of chromosome 1 of the plant Arabidopsis thaliana. Nature (2000) 1.85

A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1. Hum Mol Genet (1998) 1.81

A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa. Hum Mol Genet (1992) 1.80

A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. Nat Genet (1999) 1.79

Functional impairment of lens aquaporin in two families with dominantly inherited cataracts. Hum Mol Genet (2000) 1.73

Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19. Hum Mol Genet (1994) 1.71

A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract. J Med Genet (2006) 1.68

Gene transfer into the mouse retina mediated by an adeno-associated viral vector. Hum Mol Genet (1996) 1.67

Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker. Genomics (1989) 1.59

Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma. Am J Hum Genet (2000) 1.58

A locus for autosomal dominant posterior polar cataract on chromosome 1p. Hum Mol Genet (1997) 1.57

A human autosomal phosphoglycerate kinase locus maps near the HLA cluster. Proc Natl Acad Sci U S A (1984) 1.55

The Msh-like homeobox genes define domains in the developing vertebrate eye. Development (1991) 1.54

Retinitis pigmentosa: genes, proteins and prospects. Dev Ophthalmol (2003) 1.54

Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin. Hum Genet (1999) 1.54

Isolation and characterisation of a cDNA clone for human apolipoprotein CI and assignment of the gene to chromosome 19. Hum Genet (1985) 1.53

Human-to-human transmission of Pseudomonas pseudomallei. Ann Intern Med (1975) 1.52

Nationwide outbreak of listeriosis due to contaminated meat. Epidemiol Infect (2005) 1.52

A locus for autosomal dominant anterior polar cataract on chromosome 17p. Hum Mol Genet (1996) 1.51

The liver in congestive heart failure: a review. Am J Med Sci (1973) 1.50

Nucleotide sequence of the gene for human transition protein 1 and its chromosomal localization on chromosome 2. Genomics (1990) 1.49

Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. Am J Med Genet (2000) 1.48

A direct effect of guanosine tetraphosphate on pausing of Escherichia coli RNA polymerase during RNA chain elongation. J Biol Chem (1981) 1.48

Screening for Neisseria gonorrhoeae and Chlamydia trachomatis in men who have sex with men at male-only saunas. Sex Transm Dis (2003) 1.46

Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment site. Genomics (1991) 1.46

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy. Hum Mol Genet (2001) 1.45

The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations. Am J Hum Genet (1999) 1.44

Cytological mapping of human X-linked genes by use of somatic cell hybrids involving an X-autosome translocation (mouse-hamster-human X-linked markers). Proc Natl Acad Sci U S A (1972) 1.42

An immune response after intraocular administration of an adenoviral vector containing a beta galactosidase reporter gene slows retinal degeneration in the rd mouse. Br J Ophthalmol (2001) 1.42

Studies of RNA chain initiation by Escherichia coli RNA polymerase bound to T7 DNA. Direct analysis of the kinetics and extent of RNA chain initiation at T7 promoter A1. J Biol Chem (1979) 1.41

Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study. Br J Ophthalmol (1993) 1.41

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. Hum Mol Genet (1999) 1.40

The role of molecular genetics in the prenatal diagnosis of retinal dystrophies. Eye (Lond) (1995) 1.39

Venflons: why can't we resist putting them in? J Hosp Infect (2006) 1.39

A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity. J Med Genet (1998) 1.39

GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy. Mol Cell (1998) 1.38

Emerging quinolone-resistant Salmonella in the United States. Emerg Infect Dis (1997) 1.38

Mutation in GLI3 in postaxial polydactyly type A. Nat Genet (1997) 1.38

High frequency of persistent hyperplastic primary vitreous and cataracts in p53-deficient mice. Cell Death Differ (1998) 1.38

Expression pattern in brain of TASK-1, TASK-3, and a tandem pore domain K(+) channel subunit, TASK-5, associated with the central auditory nervous system. Mol Cell Neurosci (2001) 1.37

The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II. Correlation of phenotype with genetic and protein abnormalities. J Neurol (1993) 1.37

Molecular characterization of human zyxin. J Biol Chem (1996) 1.36

Performance of serum-supplemented and serum-free media in IFNgamma Elispot Assays for human T cells. Cancer Immunol Immunother (2009) 1.36

Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe. Am J Hum Genet (1990) 1.36

Homology of AFLP products in three mapping populations of barley. Mol Gen Genet (1997) 1.36

Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa. Hum Mol Genet (1999) 1.35

Dispersed human immunoglobulin kappa light-chain genes. Nature (1986) 1.35

Effects of CO2 on dynamic cerebral autoregulation measurement. Physiol Meas (1999) 1.34

Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy. J Med Genet (1998) 1.33