Carmen Cadilla to Hermanski-Pudlak Syndrome
This is a "connection" page, showing publications Carmen Cadilla has written about Hermanski-Pudlak Syndrome.
Connection Strength
2.474
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Serrano-Gonz?lez J, Montes-Rodr?guez I, Renta JY, Rojas R, Cadilla CL. After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report. Mol Genet Genomic Med. 2024 Jul; 12(7):e2493.
Score: 0.970
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Jard?n J, Izquierdo NJ, Renta JY, Garc?a-Rodr?guez O, Cadilla CL. Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3). Ophthalmic Genet. 2016; 37(1):89-94.
Score: 0.479
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Carmona-Rivera C, Simeonov DR, Cardillo ND, Gahl WA, Cadilla CL. A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3). Biochim Biophys Acta. 2013 Mar; 1833(3):468-78.
Score: 0.432
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Santiago Borrero PJ, Rodr?guez-P?rez Y, Renta JY, Izquierdo NJ, Del Fierro L, Mu?oz D, Molina NL, Ram?rez S, Pag?n-Mercado G, Ort?z I, Rivera-Caragol E, Spritz RA, Cadilla CL. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. J Invest Dermatol. 2006 Jan; 126(1):85-90.
Score: 0.269
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Rivera-Concepci?n J, Acevedo-Canabal J, Bur?s A, Vargas G, Cadilla C, Izquierdo NJ. Bleeding assessment in female patients with the Hermansky-Pudlak syndrome-A case series. Eur J Haematol. 2019 May; 102(5):432-436.
Score: 0.168
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Torres-Serrant M, Ramirez SI, Cadilla CL, Ramos-Valencia G, Santiago-Borrero PJ. Newborn screening for hermansky-pudlak syndrome type 3 in Puerto Rico. J Pediatr Hematol Oncol. 2010 Aug; 32(6):448-53.
Score: 0.092
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Cordova A, Barrios NJ, Ortiz I, Rivera E, Cadilla C, Santiago-Borrero PJ. Poor response to desmopressin acetate (DDAVP) in children with Hermansky-Pudlak syndrome. Pediatr Blood Cancer. 2005 Jan; 44(1):51-4.
Score: 0.063