Refinement of the OPA1 gene locus on chromosome 3q28-q29 to a region of 2-8 cM, in one Cuban pedigree with autosomal dominant optic atrophy type Kjer.

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Published in Am J Hum Genet on October 01, 1995

Authors

A Lunkes, U Hartung, C Magariño, M Rodríguez, A Palmero, L Rodríguez, L Heredero, J Weissenbach, J Weber, G Auburger

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HIV-1 infection among intravenous drug users in Manhattan, New York City, from 1977 through 1987. JAMA (1989) 6.68

Genome sequence of the plant pathogen Ralstonia solanacearum. Nature (2002) 6.23

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Mechanisms of evolution in Rickettsia conorii and R. prowazekii. Science (2001) 5.32

An interspersed repeated sequence specific for human subtelomeric regions. EMBO J (1990) 5.30

Compilation of tRNA sequences and sequences of tRNA genes. Nucleic Acids Res (1989) 4.79

The initiation sites for RNA transcription in Ad2 DNA. Cell (1977) 4.76

A radiation hybrid map of the human genome. Hum Mol Genet (1996) 4.75

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The ubiquitin pathway in Parkinson's disease. Nature (1998) 4.48

Primary, syncytium-inducing human immunodeficiency virus type 1 isolates are dual-tropic and most can use either Lestr or CCR5 as coreceptors for virus entry. J Virol (1996) 4.43

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A first-generation physical map of the human genome. Nature (1993) 3.40

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A method for constructing radiation hybrid maps of whole genomes. Nat Genet (1994) 3.19

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The complete genome sequence of Lactobacillus bulgaricus reveals extensive and ongoing reductive evolution. Proc Natl Acad Sci U S A (2006) 3.11

A gradient of sex linkage in the pseudoautosomal region of the human sex chromosomes. Nature (1986) 3.09

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A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet (1986) 3.03

A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group. Nat Genet (1996) 2.98

Two interferon mRNAs in human fibroblasts: in vitro translation and Escherichia coli cloning studies. Proc Natl Acad Sci U S A (1980) 2.88

Identification of novel susceptibility loci for inflammatory bowel disease on chromosomes 1p, 3q, and 4q: evidence for epistasis between 1p and IBD1. Proc Natl Acad Sci U S A (1998) 2.88

A human Y-linked DNA polymorphism and its potential for estimating genetic and evolutionary distance. Science (1985) 2.88

Genetic analysis of adenovirus type 2 III. Temperature sensitivity of processing viral proteins. J Virol (1976) 2.88

Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum Mol Genet (1994) 2.83

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat Genet (1993) 2.79

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Small supernumerary marker chromosomes--progress towards a genotype-phenotype correlation. Cytogenet Genome Res (2006) 2.52

Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet (1995) 2.52

The role of the adenovirus protease on virus entry into cells. EMBO J (1996) 2.44

[Primary structure of transfer RNA]. Biochimie (1972) 2.43

Immunization of patients with rheumatoid arthritis against influenza: a study of vaccine safety and immunogenicity. J Rheumatol (1994) 2.43

Safety study of nonoxynol-9 as a vaginal microbicide: evidence of adverse effects. J Acquir Immune Defic Syndr Hum Retrovirol (1998) 2.41

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet (2000) 2.40

Community involvement in dengue vector control: cluster randomised trial. BMJ (2009) 2.36

Genetic localization of a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31-q33. Nat Genet (1996) 2.29

The beta2-microglobulin mRNA in human Daudi cells has a mutated initiation codon but is still inducible by interferon. EMBO J (1983) 2.28

Risky business: health and safety in the sex industry over a 9 year period. Sex Transm Infect (1999) 2.22

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

Association between intraepithelial Escherichia coli and colorectal cancer. Gastroenterology (1998) 2.15

Prevalence of HIV infection in patients attending an inner city accident and emergency department. BMJ (1994) 2.15

Pseudoautosomal DNA sequences in the pairing region of the human sex chromosomes. Nature (1985) 2.14

P-glycoprotein is stably inhibited by vanadate-induced trapping of nucleotide at a single catalytic site. J Biol Chem (1995) 2.12

Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nat Genet (1993) 2.03

[Factors associated with the accumulation of abdominal fat estimated with anthropometric indexes]. Med Clin (Barc) (2000) 2.02

MRI atlas of the human cerebellar nuclei. Neuroimage (2002) 2.00

Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas. Arch Dermatol (1996) 2.00

HIV-1 viral load, phenotype, and resistance in a subset of drug-naive participants from the Delta trial. The National Virology Groups. Delta Virology Working Group and Coordinating Committee. Lancet (1997) 1.98

Pathophysiology of the basal ganglia in Parkinson's disease. Trends Neurosci (2000) 1.97

Levels of nerve growth factor and its mRNA in the central nervous system of the rat correlate with cholinergic innervation. EMBO J (1985) 1.93

A sex chromosome rearrangement in a human XX male caused by Alu-Alu recombination. Cell (1987) 1.93

A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nat Genet (1994) 1.88

Prevalence and significance of hepatitis C viremia in chronic active hepatitis B. Am J Gastroenterol (1994) 1.86

Hepatocellular carcinoma in HIV-infected patients with chronic hepatitis C. Am J Gastroenterol (2001) 1.83

Sexual partner networks in the transmission of sexually transmitted diseases. An analysis of gonorrhea cases in Sheffield, UK. Sex Transm Dis (1997) 1.82

Mesenteric lymphadenitis and terminal ileitis due to yersinia pseudotuberculosis. N Engl J Med (1970) 1.82

Regulation of human gamma-interferon and beta-interferon gene expression in PHA-activated lymphocytes. J Interferon Res (1986) 1.81

Microglandular hyperplasia of the uterine cervix. Cytologic diagnosis in cervical smears. Acta Cytol (1999) 1.81

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet (2005) 1.80

A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. Nat Genet (1993) 1.79

Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11. Am J Hum Genet (1999) 1.78

A DNA probe detecting multiple haplotypes of the human Y chromosome. Am J Hum Genet (1986) 1.77

Genetic mapping using haplotype, association and linkage methods suggests a locus for severe bipolar disorder (BPI) at 18q22-q23. Nat Genet (1996) 1.76

Single-copy DNA sequences specific for the human Y chromosome. Nature (1983) 1.76

Human-ovine comparative sequencing of a 250-kb imprinted domain encompassing the callipyge (clpg) locus and identification of six imprinted transcripts: DLK1, DAT, GTL2, PEG11, antiPEG11, and MEG8. Genome Res (2001) 1.75

Long-range restriction map of the terminal part of the short arm of the human X chromosome. Proc Natl Acad Sci U S A (1990) 1.75