ABCA4 gene

Known as: PHOTORECEPTOR RIM PROTEIN, ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 4, ARMD2 
 
National Institutes of Health

Papers overview

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Highly Cited
2010
Highly Cited
2010
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4
Case-parent trios were used in a genome-wide association study of cleft lip with and without cleft palate. SNPs near two genes… (More)
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Highly Cited
2009
Highly Cited
2009
ABCA4 disease progression and a proposed strategy for gene therapy.
Autosomal recessive retinal diseases caused by mutations in the ABCA4 gene are being considered for gene replacement therapy. All… (More)
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Highly Cited
2007
Highly Cited
2007
Plate tectonics in the classification of personality disorder: shifting to a dimensional model.
The diagnostic categories of the American Psychiatric Association's Diagnostic and Statistical Manual of Mental Disorders were… (More)
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Highly Cited
2006
Highly Cited
2006
Body mass, fat-free body mass, and prognosis in patients with chronic obstructive pulmonary disease from a random population sample: findings from the Copenhagen City Heart Study.
RATIONALE Low body mass index (BMI) is a marker of poor prognosis in chronic obstructive pulmonary disease (COPD). In the general… (More)
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Highly Cited
2004
Highly Cited
2004
Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence.
Mutations in ABCA4, which encodes a photoreceptor specific ATP-binding cassette transporter (ABCR), cause autosomal recessive… (More)
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Highly Cited
2000
Highly Cited
2000
The Five Factor Model and impulsivity : using a structural model of personality to understand impulsivity
The present project utilized the Five Factor Model of personality (FFM; McCrae & Costa, 1990) to clarify the multi-faceted nature… (More)
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Highly Cited
2000
Highly Cited
2000
Tissue depletion and health related quality of life in patients with chronic obstructive pulmonary disease.
The relationship between tissue depletion and decreased exercise performance has been well established in patients with COPD. In… (More)
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Highly Cited
1999
Highly Cited
1999
Effects of weight loss on regional fat distribution and insulin sensitivity in obesity.
Weight loss (WL) decreases regional depots of adipose tissue and improves insulin sensitivity, two parameters that correlate… (More)
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Highly Cited
1999
Highly Cited
1999
Markers of capacity to utilize fatty acids in human skeletal muscle: relation to insulin resistance and obesity and effects of weight loss.
A number of biochemical defects have been identified in glucose metabolism within skeletal muscle in obesity, and positive… (More)
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Highly Cited
1997
Highly Cited
1997
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.
Age-related macular degeneration (AMD) is the leading cause of severe central visual impairment among the elderly and is… (More)
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