Carmen Cadilla to Mutation
This is a "connection" page, showing publications Carmen Cadilla has written about Mutation.
Connection Strength
1.245
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Rodr?guez-Agramonte F, Izquierdo NJ, Cadilla C. Ocular findings in patients with oculocutaneous albinism type ia with G47D tyrosinase gene mutation in Puerto Rico: a case report. Bol Asoc Med P R. 2013; 105(2):62-4.
Score: 0.309
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Lojo L, Santiago-Borrero P, Rivera E, Renta J, Cadilla CL. Asymptomatic child heterozygous for hemoglobin S and hemoglobin P?rto Alegre. Pediatr Blood Cancer. 2011 Mar; 56(3):458-9.
Score: 0.266
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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: 0.171
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Garc?a-Fragoso L, Garc?a-Garc?a I, de la Vega A, Renta J, Cadilla CL. Presence of the 5,10-methylenetetrahydrofolate reductase C677T mutation in Puerto Rican patients with neural tube defects. J Child Neurol. 2002 Jan; 17(1):30-2.
Score: 0.144
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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: 0.085
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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: 0.076
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Mahadeo KM, Diop-Bove N, Ramirez SI, Cadilla CL, Rivera E, Martin M, Lerner NB, DiAntonio L, Duva S, Santiago-Borrero PJ, Goldman ID. Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico. J Pediatr. 2011 Oct; 159(4):623-7.e1.
Score: 0.069
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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: 0.048
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Garc?a-Garc?a I, Garc?a-Fragoso L, Renta J, Arce S, Cadilla CL. Erythrocyte volume, folate levels, and the presence of methylenetetrahydrofolate reductase polymorphism. P R Health Sci J. 2002 Mar; 21(1):17-9.
Score: 0.036
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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: 0.030
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Pietri R, Granell L, Cruz A, De Jes?s W, Lewis A, Leon R, Cadilla CL, Garriga JL. Tyrosine B10 and heme-ligand interactions of Lucina pectinata hemoglobin II: control of heme reactivity. Biochim Biophys Acta. 2005 Mar 14; 1747(2):195-203.
Score: 0.011