NatalioIzquierdo EncarnacionMD

PubMed

• Adult Refsum Disease in Puerto Rico: A Case Report.
  Raúl Y Ramos-Sánchez, José J López-Fontanet, Natalio Izquierdo> ;Cureus. 2023 Sep 1
• Musculoskeletal Manifestations in Patients With Bardet-Biedl Syndrome: A Report of Two Cases.
  Gabriela M Arroyo Gonzalez, Natalio Izquierdo> ;Cureus. 2023 Jul 1
• Retinitis Pigmentosa Sine Pigmento in a Carrier of Usher Syndrome.
  Sofía C Ayala Rodríguez, Estefania Ramirez Marquez, Andrea Robles Bocanegra, Natalio Izquierdo, Armando L Oliver> ;Cureus. 2023 Apr 1
• Pseudodominant Inheritance of Retinitis Pigmentosa Due to Mutations in the Phosphodiesterase 6B Gene: A Case Report.
  Andrea Robles Bocanegra, Javier Tato, Leonardo J Molina Thurin, Natalio Izquierdo, Armando L Oliver> ;Cureus. 2023 Feb 1
• 1 citations
  Variables in the ACBD5 Gene Leading to Distinct Phenotypes: A Case Report.
  Mariella C Pappaterra-Rodriguez, Sofia M Muns, Sofía C Ayala Rodríguez, Guillermo A Requejo Figueroa, Natalio Izquierdo, Armando L Oliver> ;Cureus. 2022 Dec 1
• Signal Peptide Variants in Inherited Retinal Diseases: A Multi-Institutional Case Series.
  Hiram J Jimenez, Rebecca A Procopio, Tobin B T Thuma, Molly H Marra, Natalio Izquierdo, Michael A Klufas, Aaron Nagiel, Mark E Pennesi, Jose S Pulido> ;International Journal of Molecular Sciences. 2022 Nov 1
• 3 citations
  Association Between Twitter Mention and Open-Access Status on Article Citation Metrics in the Field of Ophthalmology.
  David F Santos, Nasir Asif, Gabriel F Santos Malave, Natalio Izquierdo> ;Cureus. 2022 Nov 1
• An Analysis of the Readability of Phacoemulsification Online Resources.
  David F Santos, Gabriel F Santos Malave, Nasir Asif, Natalio Izquierdo> ;Cureus. 2022 Sep 1
• 2 citations
  Genetic analysis of patients with nonsyndromic and syndromic retinitis pigmentosa in Puerto Rico: a genetic legacy.
  José Gustavo Vargas, Natalio J Izquierdo, Armando Oliver, Sofia Muns, Omar Garcia-Rodriguez, Víctor Villegas, Andrés Emanuelli> ;Ophthalmic Genetics. 2022 Aug 1
• Dermatologic manifestations in patients with the Hermansky-Pudlak syndrome types 1 and 3.
  Gabriel Santos Malave, Natalio J Izquierdo, Nestor P Sanchez> ;Orphanet Journal of Rare Diseases. 2022 Jul 30
• 4 citations
  Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series.
  Jin Kyun Oh, José G Vargas Del Valle, Jose Ronaldo Lima de Carvalho Jr, Young Joo Sun, Sarah R Levi, Joseph Ryu, Jing Yang, Takayuki Nagasaki, Andres Emanuelli, Nailyn...> ;Orphanet Journal of Rare Diseases. 2022 Apr 1
• 2 citations
  Retinitis Pigmentosa in the Puerto Rican Population: A Geographic Distribution.
  David F Santos, Leonardo J Molina Thurin, José Gustavo Vargas, Natalio J Izquierdo, Armando Oliver> ;Clinical Ophthalmology. 2022 Jan 1
• 2 citations
  A Genotype–Phenotype Analysis of the Bardet–Biedl Syndrome in Puerto Rico
  Gabriel A Guardiola, Fabiola Ramos, Natalio J Izquierdo, Armando L. Oliver> ;Clinical Ophthalmology. 2021 Sep 7
• Compound Heterozygous Mutations in the BBS-1 Gene and its Clinical Presentation: A Case Report.
  Eduardo Michelen-Gómez, Gabriel Guardiola-Dávila, Natalio J Izquierdo> ;Puerto Rico Health Sciences Journal. 2021 Sep 1
• 1 citations
  Retinitis Pigmentosa and Polydactyly in a Patient with a Heterozygous Mutation on the BBS1 Gene.
  Gabriel A Guardiola, Fabiola Ramos, Natalio J Izquierdo> ;International Medical Case Reports Journal. 2021 Jul 6
• 1 citations
  Clinical characteristics and ultra-widefield fundus image analysis of two siblings with Bardet-Biedl syndrome type 1 p.Met390Arg variant.
  Sofia M. Muns, Lorena A. Montalvo, Jose G. Vargas Del Valle, Meliza Martinez, Armando L. Oliver, Natalio J Izquierdo> ;American Journal of Ophthalmology Case Reports. 2020 Sep 18
• 3 citations
  Successful repair of a spontaneous scleral rupture in a patient with type VI Ehlers-Danlos syndrome.
  Rosa Lozada, B.S. Claudia Amaral, B.S. Samuel Alvarez-Falcón, Natalio J Izquierdo, Armando L. Oliver> ;American Journal of Ophthalmology Case Reports. 2020 Dec 1
• 4 citations
  Bleeding assessment in female patients with the Hermansky-Pudlak syndrome-A case series.
  Joel Rivera-Concepcion, Jorge Acevedo‐Canabal, Antonio Burés, Gustavo Vargas, Carmen L. Cadilla, Natalio J Izquierdo> ;European Journal of Haematology. 2019 May 1
• 6 citations
  Ocular Symptoms and Signs of Chikungunya Fever in Puerto Rico.
  Jan P. Ulloa-Padilla, Pedro J Dávila, Natalio J Izquierdo, Omar García-Rodríguez, Ivonne Z Jiménez> ;Puerto Rico Health Sciences Journal. 2018 Jun 8
• 2 citations
  UNILATERAL NEURORETINITIS AS A LATE-ONSET MANIFESTATION OF THE CHIKUNGUNYA FEVER: A CASE SERIES.
  Pedro J. Dávila, Allison Toledo, Jan P. Ulloa-Padilla, Natalio J Izquierdo, Andres Emanuelli> ;Retinal Cases & Brief Reports. 2017 Sep 1
• Phacoemulsification and intraocular lens implantation in patients with oculocutaneous albinism.
  Pedro J. Dávila, Jan P. Ulloa-Padilla, Natalio J Izquierdo> ;Ophthalmic Genetics. 2017 Mar 1
• 1 citations
  Increased Intraocular Pressure in a Patient With Septooptic Dysplasia: A Case Report.
  Jan P. Ulloa-Padilla, Natalio J Izquierdo, Armando L. Oliver> ;Journal of Glaucoma. 2016 Jul 1
• Klinefelter Syndrome (49, XXXXY/48, XXXY) associated with narrow angle glaucoma: A case report.
  Ejan P Ulloa-Padilla, Pedro J. Dávila, Natalio J Izquierdo> ;Boletin De La Asociacion Medica De Puerto Rico. 2016 Jan 1
• 5 citations
  Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3)
  Javier Jardón, Natalio J Izquierdo, Jessica Y. Renta, Omar García-Rodríguez, Carmen L. Cadilla> ;Ophthalmic Genetics. 2014 Apr 28
• Germline retinoblastoma without inherited gene mutation: a case report.
  José A Quintero-Estades, Natalio J Izquierdo> ;Boletín de la Asociación Médica de Puerto Rico. 2014 Jan 1
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