Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Natalio J Izquierdo"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-7 (2022)
Abstract Background The Hermansky–Pudlak syndrome (HPS) is a genetically heterogeneous group of diseases characterized by oculocutaneous albinism, bleeding diathesis, and systemic complications. It is the most common genetic disorder in Puerto Rico
Externí odkaz:
https://doaj.org/article/5b0746127c61488d9309c1ab9187526a
Autor:
Jin Kyun Oh, José G. Vargas Del Valle, Jose Ronaldo Lima de Carvalho, Young Joo Sun, Sarah R. Levi, Joseph Ryu, Jing Yang, Takayuki Nagasaki, Andres Emanuelli, Nailyn Rasool, Rando Allikmets, Janet R. Sparrow, Natalio J. Izquierdo, Jacque L. Duncan, Vinit B. Mahajan, Stephen H. Tsang
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background Inherited retinal dystrophies describe a heterogeneous group of retinal diseases that lead to the irreversible degeneration of rod and cone photoreceptors and eventual blindness. Recessive loss-of-function mutations in Tubulin Tyr
Externí odkaz:
https://doaj.org/article/1e65e94f0222440682536d647ca33028
Autor:
Sofia M. Muns, BS, Lorena A. Montalvo, MD, Jose G. Vargas Del Valle, BS, Meliza Martinez, MD, Armando L. Oliver, MD, Natalio J. Izquierdo, MD
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 20, Iss , Pp 100914- (2020)
Purpose: 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. Observations: Sequencing analysis revealed a p.Met390Arg pathogenic variant in th
Externí odkaz:
https://doaj.org/article/19498afa2b034287851c0eb22e102191
Autor:
Rosa Lozada, MD, Claudia Amaral, B.S., Samuel Alvarez-Falcón, B.S., Natalio J. Izquierdo, MD, Armando L. Oliver, MD
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 20, Iss , Pp 100961- (2020)
Purpose: To describe ocular findings in a patient with Type VI Ehlers-Danlos syndrome (EDS) and make ophthalmologists aware of the potential ophthalmic complications of this particular type of EDS. To briefly report the surgical technique utilized fo
Externí odkaz:
https://doaj.org/article/aa27694f2df84886b935369d9b4ec906
Autor:
Ambar Lugo-Merly, Leonardo J Molina Thurin, Natalio J Izquierdo-Encarnacion, Stella M Casillas-Murphy, Armando Oliver-Cruz
Publikováno v:
International Medical Case Reports Journal. 15:693-698
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5452cb7358990910aaaf9597597b46d1
https://doi.org/10.2147/imcrj.s391001
https://doi.org/10.2147/imcrj.s391001
Autor:
David F Santos, Leonardo J Molina Thurin, José Gustavo Vargas, Natalio J Izquierdo, Armando Oliver
Publikováno v:
Clinical Ophthalmology. 16:3175-3179
David F Santos,1 Leonardo J Molina Thurin,2 José Gustavo Vargas,3 Natalio J Izquierdo,4 Armando Oliver5 1School of Medicine, Medical Sciences Campus, University of Puerto Rico, San Juan, PR, USA; 2San Juan Bautista School of Medicine, Caguas, PR,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5108f5b832a58366f48b036af711ff5
https://doi.org/10.2147/opth.s375365
https://doi.org/10.2147/opth.s375365
Publikováno v:
Clinical Ophthalmology (Auckland, N.Z.)
Background Bardet-Biedl syndrome is a complex heterogeneous ciliopathy caused by genetic mutations. Although establishing genotype-phenotype correlations has been challenging, some regional variations have been previously reported. Due to its relativ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::116ddcdf70dedd89ce5bf4e13f26460e
https://doi.org/10.2147/opth.s328493
https://doi.org/10.2147/opth.s328493
Publikováno v:
International Medical Case Reports Journal
Purpose To report retinitis pigmentosa and a history of polydactyly in a Bardet-Biedl syndrome mutation carrier. Observations A 25-year-old male presented to the clinic complaining of poor visual acuity since childhood, night-blindness, and progressi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c17058e00213b5ecdbec362287be48d
https://doi.org/10.2147/imcrj.s321961
https://doi.org/10.2147/imcrj.s321961
Publikováno v:
Puerto Rico health sciences journal. 41(3)
To determine the incidence of retinoblastoma (Rb) and the survival rate of patients with Rb in Puerto Rico.This was a retrospective review of data from the Puerto Rico Central Cancer Registry (1985 - 2012).There were a total of 57 patients with Rb, w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::62c9be032a3f0d166527307add1d9a21
https://pubmed.ncbi.nlm.nih.gov/36018743
https://pubmed.ncbi.nlm.nih.gov/36018743
Autor:
David F Santos, Leonardo J Molina Thurin, José Gustavo Vargas, Natalio J Izquierdo, Armando Oliver
Publikováno v:
Cureus. 14(8)
Introduction Patients with Usher syndrome (USH) have retinitis pigmentosa (RP) and hearing loss inherited as an autosomal recessive (ar) trait. Mutations in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e944d953955da6855a4fa535e7fc319
https://pubmed.ncbi.nlm.nih.gov/36003347
https://pubmed.ncbi.nlm.nih.gov/36003347