Results 1 to 10 of about 103,255 (190)

Structural and Functional Insight into Intracameral Cefuroxime Ocular Toxic Syndrome (ICOTS) in Eyes with Disrupted Intraocular Barrier [PDF]

Ophthalmology and Therapy
Introduction Intracameral cefuroxime is commonly used as a prophylaxis against endophthalmitis following cataract surgery. While its effectiveness is well-documented, concerns remain regarding potential toxicity.
Andrea Cusumano, Marco A. Pileri, Benedetto Falsini, Massimo Cesareo, Michele D’Ambrosio, Fabian D’Apolito, Francesco Martelli, Marco Lombardo   +7 more
doaj   +2 more sources

Genoma digital [PDF]

Anàlisi: quaderns de comunicació i cultura, 2001
Utilizando la analogía del genoma humano, se reflexiona sobre la complejidad del genoma digital y sobre algunos aspectos que impiden una evolución más rápida y científica del mundo hipermedia.
Moreno, Isidro
core   +5 more sources

Expanding Genetic and Clinical Spectra of Inherited Retinal Dystrophies: Identification of Three Novel PRPH2 Variants [PDF]

Biomedicines
Background/Objectives: Pathogenic variants in the PRPH2 gene are implicated in a wide spectrum of Inherited Retinal Dystrophies (IRDs), which show significant phenotypic heterogeneity.
Raffaella Cascella, Jacopo Sebastiani, Claudia Strafella, Giulia Calvino, Sarah Andreucci, Michele D’ambrosio, Stefania Zampatti, Jung Hee Levialdi Ghiron, Benedetto Falsini, Andrea Cusumano, Emiliano Giardina   +10 more
doaj   +2 more sources

Estructura del genoma [PDF]

Treballs de la Societat Catalana de Biologia, 2009
El genoma és una estructura altament dinàmica amb una certa tendència a la inestabilitat, i està, per tant, subjecte a l'escrutini de la selecció natural. En el camí d'entendre el genoma hem pogut observar el paper clau que tenen les repeticions (de tota
Armengol i Dulcet, Lluís, Marquès i Bonet, Tomàs   +1 more
core   +2 more sources

Longitudinal Structure–Function Evaluation in a Patient with CDHR1-Associated Retinal Dystrophy: Progressive Visual Function Loss with Retinal Remodeling

Diagnostics, 2023
Background: Retinal dystrophies related to damaging variants in the cadherin-related family member 1 (CDHR1) gene are rare and phenotypically heterogeneous.
Andrea Cusumano, Benedetto Falsini, Fabian D’Apolito, Michele D’Ambrosio, Jacopo Sebastiani, Raffaella Cascella, Shila Barati, Emiliano Giardina   +7 more
doaj   +1 more source

Cross-Validation of Next-Generation Sequencing Technologies for Diagnosis of Chromosomal Mosaicism and Segmental Aneuploidies in Preimplantation Embryos Model

Life, 2021
Detection of mosaic embryos is crucial to offer more possibilities of success to women undergoing in vitro fertilization (IVF) treatment. Next Generation Sequencing (NGS)-based preimplantation genetic testing are increasingly used for this purpose since ...
Anil Biricik, Ettore Cotroneo, Maria Giulia Minasi, Pier Francesco Greco, Sara Bono, Matteo Surdo, Federica Lecciso, Mariateresa Sessa, Francesco Fiorentino, Francesca Spinella, Ermanno Greco   +10 more
doaj   +1 more source

Long-Term Structural and Functional Assessment of Doyne Honeycomb Retinal Dystrophy following Nanosecond 2RT Laser Treatment: A Case Series

Case Reports in Ophthalmology, 2023
Introduction: Doyne honeycomb retinal dystrophy (DHRD), or autosomal dominant radial drusen, is a genetic disease caused by pathogenic variants of the epidermal growth factor (EGF)-containing fibulin-like extracellular matrix protein 1 EFEMP1 gene and is
Andrea Cusumano, Benedetto Falsini, Michele D'Ambrosio, Fabian D'Apolito, Jacopo Sebastiani, Jung Hee Levialdi Ghiron, Emiliano Giardina, Raffaella Cascella   +7 more
doaj   +1 more source

Genes y Mutaciones Implicados en Distrofias Retinianas

Revista Oftálmica, 2023
INTRODUCCIÓN: Las enfermedades retinianas hereditarias (IRD por sus siglas en inglés), son un grupo heterogéneo de enfermedades visualmente debilitantes causadas por la variación patogénica en proteínas críticas para la función retiniana. El diagnóstico
Delia Porras
doaj   +1 more source

Transparencia pública, genoma y datos genéticos

Revista Española de la Transparencia, 2023
Las actuaciones sobre el genoma, la información y los datos genéticos presentan riesgos para los derechos fundamentales, incluido el derecho a la protección de datos personales, y para la dignidad y libertad humana.
Jesús Jiménez López
doaj   +3 more sources

El genoma canino [PDF]

, 2001
Camps i Rabadà, Jaume
core   +2 more sources