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Quoted phrase not found in phrase index: "Newfoundland cone-rod dystrophy"
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Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.
Eichers ER, Green JS, Stockton DW, Jackman CS, Whelan J, McNamara JA, Johnson GJ, Lupski JR, Katsanis N. Eichers ER, et al. Am J Hum Genet. 2002 Apr;70(4):955-64. doi: 10.1086/339688. Epub 2002 Feb 26. Am J Hum Genet. 2002. PMID: 11868161 Free PMC article.
During our studies of this population, we identified a group of families exhibiting a retinal dystrophy reminiscent of retinitis punctata albescens but with a substantially lower age at onset and more-rapid and distinctive progression, a disorder that we termed "Newfoun …
During our studies of this population, we identified a group of families exhibiting a retinal dystrophy reminiscent of retinitis punc …
Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.
Hipp S, Zobor G, Glöckle N, Mohr J, Kohl S, Zrenner E, Weisschuh N, Zobor D. Hipp S, et al. Acta Ophthalmol. 2015 Jun;93(4):e281-6. doi: 10.1111/aos.12573. Epub 2014 Nov 27. Acta Ophthalmol. 2015. PMID: 25429852 Free article.
PURPOSE: Mutations in the RLBP1 gene encoding the cellular retinaldehyde-binding protein (CRALBP) cause autosomal recessive progressive retinopathy, such as retinitis punctata albescens (RPA), Bothnia-type dystrophy (BD), Newfoundland rod-cone dystr …
PURPOSE: Mutations in the RLBP1 gene encoding the cellular retinaldehyde-binding protein (CRALBP) cause autosomal recessive progressive reti …
The utility of attention-deficit/hyperactivity disorder screening instruments in individuals seeking treatment for substance use disorders.
Dakwar E, Mahony A, Pavlicova M, Glass A, Brooks D, Mariani JJ, Grabowski J, Levin FR. Dakwar E, et al. J Clin Psychiatry. 2012 Nov;73(11):e1372-8. doi: 10.4088/JCP.12m07895. J Clin Psychiatry. 2012. PMID: 23218166 Free PMC article.
Sensitivity scores for the broadest range of ADHD cases were 80.0%, 87.5%, and 60.9% for the CAARS, WURS, and ASRS-V1.1, respectively. Positive predictive value was highest for the CAARS, at 74.1%, and negative predictive value was highest for the WURS, at 95 …
Sensitivity scores for the broadest range of ADHD cases were 80.0%, 87.5%, and 60.9% for the CAARS, WURS, and ASRS-V1.1, respectively …