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Nonpenetrance

The state in which a genetic trait, although present in the appropriate genotype, fails to manifest itself in the phenotype (e.g., a woman with a… Expand
National Institutes of Health

Papers overview

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2018
2018
Purpose To assess the occurrence and the disease expression of the common p.Asn1868Ile variant in patients with Stargardt disease… Expand
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Highly Cited
2011
Highly Cited
2011
Background— Left ventricular noncompaction of the myocardium (LVNC) has been recognized as a cardiomyopathy with a genetic… Expand
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Highly Cited
2010
Highly Cited
2010
Background—Left ventricular (LV) noncompaction (LVNC) is a distinct cardiomyopathy featuring a thickened bilayered LV wall… Expand
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Highly Cited
2008
Highly Cited
2008
Mutations in the LMNA gene result in diverse phenotypes including Emery Dreifuss muscular dystrophy, limb girdle muscular… Expand
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Highly Cited
2006
Highly Cited
2006
Dominant mutations in the mRNA splicing factor gene PRPF31 (RP11) cause retinitis pigmentosa with reduced penetrance. We studied… Expand
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Highly Cited
2001
Highly Cited
2001
BACKGROUND Keloids are proliferative fibrous growths that result from an excessive tissue response to skin trauma. Most keloids… Expand
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Highly Cited
1999
Highly Cited
1999
To determine the prevalence of early-onset Alzheimer disease (EOAD) and of autosomal dominant forms of EOAD (ADEOAD), we… Expand
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Highly Cited
1998
Highly Cited
1998
We performed a comprehensive analysis for mutations in the TSC1 gene using Southern blot analysis, and SSCP and heteroduplex… Expand
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Highly Cited
1996
Highly Cited
1996
Mutations in three different genes on chromosomes 1, 14, and 21 cause autosomal dominant forms of familial Alzheimer's disease… Expand
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Highly Cited
1990
Highly Cited
1990
We report two large kindreds with Parkinson's disease (PD) apparently inherited in autosomal dominant fashion. Forty‐one persons… Expand
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