Search Results - "Izquierdo, Natalio J"

Dermatologic manifestations in patients with the Hermansky–Pudlak syndrome types 1 and 3 by Santos Malave, Gabriel, Izquierdo, Natalio J, Sanchez, Nestor P

“…Abstract Background The Hermansky–Pudlak syndrome (HPS) is a genetically heterogeneous group of diseases characterized by oculocutaneous albinism, bleeding…”
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Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series by Oh, Jin Kyun, Vargas Del Valle, José G, Lima de Carvalho, Jr, Jose Ronaldo, Sun, Young Joo, Levi, Sarah R, Ryu, Joseph, Yang, Jing, Nagasaki, Takayuki, Emanuelli, Andres, Rasool, Nailyn, Allikmets, Rando, Sparrow, Janet R, Izquierdo, Natalio J, Duncan, Jacque L, Mahajan, Vinit B, Tsang, Stephen H

“…Inherited retinal dystrophies describe a heterogeneous group of retinal diseases that lead to the irreversible degeneration of rod and cone photoreceptors and…”
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Successful repair of a spontaneous scleral rupture in a patient with type VI Ehlers-Danlos syndrome by Lozada, Rosa, Amaral, Claudia, Alvarez-Falcón, Samuel, Izquierdo, Natalio J., Oliver, Armando L.

“…To describe ocular findings in a patient with Type VI Ehlers-Danlos syndrome (EDS) and make ophthalmologists aware of the potential ophthalmic complications of…”
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Clinical characteristics and ultra-widefield fundus image analysis of two siblings with Bardet-Biedl syndrome type 1 p.Met390Arg variant by Muns, Sofia M., Montalvo, Lorena A., Vargas Del Valle, Jose G., Martinez, Meliza, Oliver, Armando L., Izquierdo, Natalio J.

“…To present the case of two siblings with a genetic diagnosis of Bardet Biedl syndrome (BBS) type 1, yet different clinical profiles and disease manifestations…”
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Determining the Incidence of Retinoblastoma and Survival Rate of Retinoblastoma Patients in Puerto Rico using the Cancer Registry of Puerto Rico by Quintero-Estades, Jose Alberto, Izquierdo, Natalio J

“…Objective: To determine the incidence of retinoblastoma (Rb) and the survival rate of patients with Rb in Puerto Rico. Methods: This was a retrospective review…”
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Efficacy and Safety of Intraoperative Mitomycin C as Adjunct Therapy for Pterygium Surgery by Díaz, Lilliam, Villegas, Víctor M, Emanuelli, Andrés, Izquierdo, Natalio J

“…PURPOSES:The primary objective of this study was to determine if intraoperative application of mitomycin C (MMC) is safe as an adjunct for pterygium surgery…”
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Genetic Testing for Oculocutaneous Albinism Type 1 and 2 and Hermansky–Pudlak Syndrome Type 1 and 3 Mutations in Puerto Rico by Santiago Borrero, Pedro J., Rodríguez-Pérez, Yolanda, Renta, Jessicca Y., Izquierdo, Natalio J., del Fierro, Laura, Muñoz, Daniel, Molina, Norma López, Ramírez, Sonia, Pagán-Mercado, Glorivee, Ortíz, Idith, Rivera-Caragol, Enid, Spritz, Richard A., Cadilla, Carmen L.

“…Hermansky–Pudlak syndrome (HPS) (MIM #203300) is a heterogeneous group of autosomal recessive disorders characterized by oculocutaneous albinism (OCA),…”
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Genetic analysis of patients with nonsyndromic and syndromic retinitis pigmentosa in Puerto Rico: a genetic legacy by Vargas, José Gustavo, Izquierdo, Natalio J., Oliver, Armando, Muns, Sofia, Garcia-Rodriguez, Omar, Villegas, Víctor, Emanuelli, Andrés

“…BACKGROUNDRetinitis pigmentosa (RP) is a genetically heterogeneous group of diseases characterized by complete progressive vision loss; it has a prevalence of…”
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Compound Heterozygous Mutations in the BBS-1 Gene and its Clinical Presentation: A Case Report by Michelen-Gómez, Eduardo, Guardiola-Dávila, Gabriel, Izquierdo, Natalio J

“…Compound heterozygous mutations, where two distinct mutated alleles are present within a particular gene, can give rise to the Bardet-Biedl syndrome (BBS)…”
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A Genotype-Phenotype Analysis of the Bardet-Biedl Syndrome in Puerto Rico by Guardiola, Gabriel A, Ramos, Fabiola, Izquierdo, Natalio J, Oliver, Armando L

“…Bardet-Biedl syndrome is a complex heterogeneous ciliopathy caused by genetic mutations. Although establishing genotype-phenotype correlations has been…”
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Bleeding assessment in female patients with the Hermansky‐Pudlak syndrome—A case series by Rivera‐Concepción, Joel, Acevedo‐Canabal, Jorge, Burés, Antonio, Vargas, Gustavo, Cadilla, Carmen, Izquierdo, Natalio J.

“…Introduction The Hermansky–Pudlak syndrome (HPS) is an autosomal recessive rare disorder characterized by oculocutaneous albinism, bleeding diathesis, chronic…”
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Increased Intraocular Pressure in a Patient With Septooptic Dysplasia: A Case Report by Ulloa-Padilla, Jan P, Izquierdo, Natalio J, Oliver, Armando

“…INTRODUCTION:Previous studies have described septooptic dysplasia (SOD) to describe patients who have optic nerve hypoplasia, the absence of septum pellucidum,…”
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Retinitis Pigmentosa in the Puerto Rican Population: A Geographic Distribution by Santos, David F, Molina Thurin, Leonardo J, Vargas, José Gustavo, Izquierdo, Natalio J, Oliver, Armando

“…Background: Previous studies have reported on retinitis pigmentosa (RP) in Puerto Rico. Information on the geographic distribution of RP mutations in Puerto…”
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A Genotype-Phenotype Analysis of Usher Syndrome in Puerto Rico: A Case Series by Santos, David F, Molina Thurin, Leonardo J, Gustavo Vargas, José, Izquierdo, Natalio J, Oliver, Armando

“…IntroductionPatients with Usher syndrome (USH) have retinitis pigmentosa (RP) and hearing loss inherited as an autosomal recessive (ar) trait. Mutations in the…”
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UNILATERAL NEURORETINITIS AS A LATE-ONSET MANIFESTATION OF THE CHIKUNGUNYA FEVER: A CASE SERIES by Dávila, Pedro J., Toledo, Allison, Ulloa-Padilla, Jan P., Izquierdo, Natalio J., Emanuelli, Andrés

“…To report 3 cases of unilateral neuroretinitis associated with the chikungunya fever (CHIKV). Retrospective noncomparative case series. Three female patients…”
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Phacoemulsification and intraocular lens implantation in patients with oculocutaneous albinism by Dávila, Pedro J, Ulloa-Padilla, Jan P, Izquierdo, Natalio J

“…To evaluate the benefits of phacoemulsification and intraocular lens implantation in patients with oculocutaneous albinism (OCA). The charts of 195 patients…”
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Ocular Symptoms and Signs of Chikungunya Fever in Puerto Rico by Ulloa-Padilla, Jan P, Dávila, Pedro J, Izquierdo, Natalio J, García-Rodríguez, Omar, Jiménez, Ivonne Z

“…To determine what ocular symptoms and signs are most common and if there are any associations with comorbid conditions in patients with Chikungunya fever. A…”
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Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3) by Jardón, Javier, Izquierdo, Natalio J, Renta, Jessica Y, García-Rodríguez, Omar, Cadilla, Carmen L

“…To describe and compare ocular findings in patients with Hermansky-Pudlak syndrome (HPS) type 1 and 3. This is a retrospective case series of 64 patients with…”
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Advocacy: A fountain of Leaders and Champions by Izquierdo, Natalio J

“…Water found in the bottom of the well pushes the H2O molecules to the surface through the pressure tubes to show off as they stream out of the fountain’s…”
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Advocay by Izquierdo, Natalio J

“…Temas de interés tratado por el Chairman of the PAAO Professional Relations/Advocacy Committee…”
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