Manuel Benjamin B. Ibanez

Risk factors for retinopathy of prematurity development and progression in the Philippines

Roland Joseph D. Tan, Adriel Vincent R. Te, Esther Carmen Arvella G. Ereño, Redentor Caesar G. Gonzales et autres

AIM: To determine the clinico-epidemiologic profile of premature infants diagnosed with retinopathy of prematurity (ROP), and treated for type 1, severe, and aggressive (TOSA) ROP in the different regions of the Philippines. METHODS: A multiregional ambispective cohort study of premature infants (<37wk …

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De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková, Karolina Kamińska et autres

Small nuclear RNAs (snRNAs) combine with specific proteins to generate small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. U4 snRNA forms a duplex with U6 and, together with U5, contributes to the tri-snRNP spliceosomal complex. Variants in RNU4-2, which encodes …

gb, ch, nl, cz, ru, us, fr, il, se, es, it, hu, be, au, ie, de, pt, sg, br, jp, ca, no, ph, is, gr (code pays fourni par la source)

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková, Karolina Kamińska et autres

ABSTRACT The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ∼30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the core of the major spliceosome. Recently, recurrent de novo variants in …

gb, ch, nl, cz, ru, us, fr, il, se, es, it, hu, be, au, de, ie, pt, br, jp, ca, no, ph, gr, ee, mx (code pays fourni par la source)

Ocular Genetics and Genetic Eye Research in the Philippines

Manuel Benjamin B. Ibanez, Beatriz Maria Elena M. Prieto, Patricia E. Cabrera, Michelle D. Lingao

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Stargardt misdiagnosis: how ocular genetics helps

Manuel Benjamin B. Ibanez, Thales De Guimaraes, Jenina Capasso, Alex V. Levin

Stargardt misdiagnosis: How ocular genetics helps

Manuel Benjamin B. Ibanez, Thales A. C. de Guimarães, Jenina Capasso, Nicholas R. Bello et autres

Ocular Genetics at Wills Eye Hospital sees a wide range of rare disorders for accurate diagnosis. To demonstrate how focused consultation and genetic testing results in precise diagnoses, we investigated false diagnosis rates for patients referred with a diagnosis of Stargardt disease. …

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Stargardt Misdiagnosis: How Ocular Genetics Helps

Alex V. Levin, Thales A. C. de Guimarães, Manuel Benjamin B. Ibanez, Jenina Capasso

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Serial Endothelial Cell Count of Donor Corneal Buttons in Optisol-GS

S A Sibayan, Ma. Cecilia P. Garcia-Arenal, Kristine D. Corpus, Justin Raymond G. Manlongat et autres

Optisol–GS storage medium allows donor corneas to remain viable until they are transplanted to cornea-blind recipients. In order to remain viable, the corneal endothelial cell density (ECD) must remain above 2 200 cells per mm2. The objective of this study is to …

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