Use my Search Websuite to scan PubMed, PMCentral, Journal Hosts and Journal Archives, FullText. Kick-your-searchterm to multiple Engines kick-your-query now !>

A dictionary by aggregated review articles of nephrology, medicine and the life sciences Your one-stop-run pathway from word to the immediate pdf of peer-reviewed on-topic knowledge.

10.1167/iovs.15-17174 http://scihub22266oqcxt.onion/10.1167/iovs.15-17174 C4585343!4585343!26393467     free     free     free Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Invest+Ophthalmol+Vis+Sci 2015 ; 56 (10): 6007-18 Nephropedia Template TP {{tp|p=26393467|t=2015. Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration |pdf=|usr=}}{{26393467}} gab.com Text Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration JO: Invest Ophthalmol Vis Sci http://www.kidney.de/pget.php?&tw=1&pmid=26393467 #FOAvip Purpose: To characterize in detail the phenotype and genotype of patients with pericentral retinal degeneration (PRD). Methods: Patients were screened for an annular ring scotoma ranging from 3° to 40° (n = 28, ages 24?71) with kinetic perimetry. All patients had pigmentary retinopathy in the region of the dysfunction. Further studies included cross-sectional and en face imaging, static chromatic perimetry, and electroretinography. Molecular screening was performed. Results: Genotypes of 14 of 28 PRD patients were identified: There were mutations in eight different genes previously associated with autosomal dominant or autosomal recessive RDs. Kinetic fields monitored in some patients over years to more than a decade could be stable or show increased extent of the scotoma. Electroretinograms were recordable but with different severities of dysfunction. Patterns of photoreceptor outer nuclear layer (ONL) loss corresponded to the distribution of visual dysfunction. Outer nuclear layer thickness topography and en face imaging indicated that the greatest disease expression was in the area of known highest rod photoreceptor density. Conclusions: Molecular heterogeneity was a feature of the PRD phenotype. Many of the molecular causes were also associated with other phenotypes, such as maculopathies, typical retinitis pigmentosa (RP) and cone?rod dystrophy. The pericentral pattern of retinal degeneration is thus confirmed to be an uncommon phenotype of many different genotypes rather than a distinct disease entity. Twit Text FOAVip Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration ????Invest Ophthalmol Vis Sci http://www.kidney.de/pget.php?&tw=1&pmid=26393467 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26393467 #FOAvip English Wikipedia <ref>{{Cite pmid|26393467}}</ref> Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration #MMPMID26393467 Matsui R; Cideciyan AV; Schwartz SB; Sumaroka A; Roman AJ; Swider M; Huang WC; Sheplock R; Jacobson SG Invest Ophthalmol Vis Sci 2015[Sep]; 56 (10): 6007-18 PMID26393467show ga Purpose: To characterize in detail the phenotype and genotype of patients with pericentral retinal degeneration (PRD). Methods: Patients were screened for an annular ring scotoma ranging from 3° to 40° (n = 28, ages 24?71) with kinetic perimetry. All patients had pigmentary retinopathy in the region of the dysfunction. Further studies included cross-sectional and en face imaging, static chromatic perimetry, and electroretinography. Molecular screening was performed. Results: Genotypes of 14 of 28 PRD patients were identified: There were mutations in eight different genes previously associated with autosomal dominant or autosomal recessive RDs. Kinetic fields monitored in some patients over years to more than a decade could be stable or show increased extent of the scotoma. Electroretinograms were recordable but with different severities of dysfunction. Patterns of photoreceptor outer nuclear layer (ONL) loss corresponded to the distribution of visual dysfunction. Outer nuclear layer thickness topography and en face imaging indicated that the greatest disease expression was in the area of known highest rod photoreceptor density. Conclusions: Molecular heterogeneity was a feature of the PRD phenotype. Many of the molecular causes were also associated with other phenotypes, such as maculopathies, typical retinitis pigmentosa (RP) and cone?rod dystrophy. The pericentral pattern of retinal degeneration is thus confirmed to be an uncommon phenotype of many different genotypes rather than a distinct disease entity. äMolecular Heterogeneity Within the Clinical Diagnosis of Pericentral R(epmc).pdf DeepDyve Pubget Overpricing