Search Results - "Rocha, Eugénia"

Morphological and molecular characterization of the metacercaria of Paragonimus caliensis , as a separate species from P. mexicanus in Costa Rica by Hernández-Chea, Roderico, Jiménez-Rocha, Ana Eugenia, Castro, Ruth, Blair, David, Dolz, Gaby

“…Abstract The trematode Paragonimus mexicanus is the etiological agent of paragonimiasis, a food-borne zoonotic disease in Latin America. This species, as well…”
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Immune dysregulation caused by homozygous mutations in CBLB by Janssen, Erin, Peters, Zachary, Alosaimi, Mohammed F, Smith, Emma, Milin, Elena, Stafstrom, Kelsey, Wallace, Jacqueline G, Platt, Craig D, Chou, Janet, Ansari, Yasmeen S. El, Farsi, Tariq Al, Ameziane, Najim, Al-Ali, Ruslan, Calvo, Maria, Rocha, Maria Eugenia, Bauer, Peter, Al-Sannaa, Nouriya Abbas, Sukaiti, Nashat Faud Al, Alangari, Abdullah A, Bertoli-Avella, Aida M, Geha, Raif S

“…CBL-B is an E3 ubiquitin ligase that ubiquitinates proteins downstream of immune receptors to downregulate positive signaling cascades. Distinct homozygous…”
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Bone dysplasias in 1.6 million births in Argentina by Duarte, Santiago Pablo, Rocha, María Eugenia, Bidondo, María Paz, Liascovich, Rosa, Barbero, Pablo, Groisman, Boris

“…Currently accepted birth prevalence for osteochondrodysplasias (OCDs) is about 2 per 10,000 births. Our main goal is to estimate the prevalence of OCDs in…”
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Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center by Rus, Corina-Marcela, Weissensteiner, Thomas, Pereira, Catarina, Susnea, Iuliana, Danquah, Bright D, Morales Torres, Galina, Rocha, Maria Eugenia, Cozma, Claudia, Saravanakumar, Deepa, Mannepalli, Sumanth, Kandaswamy, Krishna K, Di Bucchianico, Sebastiano, Zimmermann, Ralf, Rolfs, Arndt, Bauer, Peter, Beetz, Christian

“…Ceroid lipofuscinoses neuronal 6 (CLN6) disease belongs to the neuronal ceroid lipofuscinoses (NCLs), complex and genetically heterogeneous disorders with wide…”
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Detection of Babesia caballi and Theileria equi in Blood from Equines from Four Indigenous Communities in Costa Rica by Posada-Guzmán, María Fernanda, Dolz, Gaby, Romero-Zúñiga, Juan José, Jiménez-Rocha, Ana Eugenia

“…A cross-sectional study was carried out in four indigenous communities of Costa Rica to detect presence and prevalence of Babesia caballi and Theileria equi…”
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Prevalence of photoprotection and its associated factors in risk group for skin cancer in Teresina, Piauí by Cardoso, Fernanda Ayres de Morais E Silva, Mesquita, Gerardo Vasconcelos, Campelo, Viriato, Martins, Maria do Carmo de Carvalho E, Almeida, Camila Aparecida Pinheiro Landim, Rabelo, Regina Silva, Rocha, Amanda Eugênia Almeida, Santos, Jadson Lener Oliveira Dos

“…The incidence of skin cancer has increased worldwide, particularly melanoma rates, which had a mean development of 2.6 % a year in the last 10 years. The…”
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Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing by Zonic, Emir, Ferreira, Mariana, Pardo, Luba M., Martini, Javier, Rocha, Maria Eugenia, Aanicai, Ruxandra, Ordonez-Herrera, Natalia, Saravanakumar, Deepa, Almeida, Ligia S., Fernandes, Inês C., Gulati, Nishtha, Mannepalli, Sumanth, Hercegovac, Amela, Al-Ali, Ruslan, Pereira, Catarina, Paknia, Omid, Hladnik, Uros, Bauer, Peter, Pinto Basto, Jorge, Bertoli-Avella, Aida M.

“…Purpose: With this study, we aimed to explore the gene-disease relationship (GDR) evidence for 109 gene-disease pairs and the significance of a large…”
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Extraction and characterization of Plantago major L. mucilage as a potential natural alternative over synthetic polymers for pharmaceutical formulations by Rocha, Maria Eugênia B., Kakuda, Letícia, Souto, Eliana B., Oliveira, Wanderley P.

“…The growing demand for natural cosmetic ingredients with minimal environmental impact has spurred the search for novel alternatives to synthetic materials. In…”
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Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases by Murakami, Yoshiko, Nguyen, Thi Tuyet Mai, Baratang, Nissan, Raju, Praveen K., Knaus, Alexej, Ellard, Sian, Jones, Gabriela, Lace, Baiba, Rousseau, Justine, Ajeawung, Norbert Fonya, Kamei, Atsushi, Minase, Gaku, Akasaka, Manami, Araya, Nami, Koshimizu, Eriko, van den Ende, Jenneke, Erger, Florian, Altmüller, Janine, Krumina, Zita, Strautmanis, Jurgis, Inashkina, Inna, Stavusis, Janis, El-Gharbawy, Areeg, Sebastian, Jessica, Puri, Ratna Dua, Kulshrestha, Samarth, Verma, Ishwar C., Maier, Esther M., Haack, Tobias B., Israni, Anil, Baptista, Julia, Gunning, Adam, Rosenfeld, Jill A., Liu, Pengfei, Joosten, Marieke, Rocha, María Eugenia, Hashem, Mais O., Aldhalaan, Hesham M., Alkuraya, Fowzan S., Miyatake, Satoko, Matsumoto, Naomichi, Krawitz, Peter M., Rossignol, Elsa, Kinoshita, Taroh, Campeau, Philippe M.

“…Proteins anchored to the cell surface via glycosylphosphatidylinositol (GPI) play various key roles in the human body, particularly in development and…”
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Potential impact of nonavalent HPV vaccine in the prevention of high‐grade cervical lesions and cervical cancer in Portugal by Pista, Angela, Oliveira, Carlos Freire, Lopes, Carlos, Cunha, Maria J., Tavares, Angelina, Dias, Macedo, Rocha, Eugénia, Conceição Telhado, Maria, Afonso, Ana, Loureiro, Mariana, Horgan, Cristina, Marques, Idalina, Cortes, Elisabete, Alegra, Sofia, Carmo Serra, Maria, Lima, Jorge, Afonso, Elisabete, Ladeira, Ana Paula, Gonçalves, Luís, Sobral, Naciolinda, Reforço, Ana Sofia, Pacheco, Maria Amália, Enriquez, José Luís, Lagoa, Antónia, Ribeiro, Vera, Ferreira, Leonor, Cadillá, António Jesús, Furtado, José Manuel, Rodrigues, Joaquim, Castro, Pedro Vieira, Almeida e Silva, António, Mota, Fernando, Moura, Paulo, Silva, Teresa Simões, Jardim, Ondina, Nascimento, Maria, Borrego, Jorge, Fernandes, Rosário, Vitorino, Adelaide, Paula, Teresa, Palma, Fátima, Maia, Paula, Fatela, Ana, Sobral, Daniela, Pereira, Paula, Grilo, Isabel, Ambrósio, Paula, Torrezão, Isabel, Biscaia, Isabel, Nunes, Sílvia, Araújo, Mariana, Sâncio, Susana, Valente, Gisela, Mendonça, Sara, Santos, Sofia

“…Objective To estimate the potential impact of the nonavalent HPV vaccine for high‐grade cervical lesions and invasive cervical cancer (ICC) in Portugal…”
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Parásitos gastrointestinales zoonóticos y no zoonóticos en ranas de un río urbano tropical de Costa Rica by Pérez-Gómez, Gabriela, Jiménez-Rocha, Ana Eugenia

“…Introducción:  Los ecosistemas urbanos de Costa Rica albergan varias especies de anuros que coexisten con parásitos aún poco estudiados. Objetivo: Informar…”
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SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation by Nashabat, Marwan, Nabavizadeh, Nasrinsadat, Saraçoğlu, Hilal Pırıl, Sarıbaş, Burak, Avcı, Şahin, Börklü, Esra, Beillard, Emmanuel, Yılmaz, Elanur, Uygur, Seyide Ecesu, Kayhan, Cavit Kerem, Bosco, Luca, Eren, Zeynep Bengi, Steindl, Katharina, Richter, Manuela Friederike, Bademci, Guney, Rauch, Anita, Fattahi, Zohreh, Valentino, Maria Lucia, Connolly, Anne M., Bahr, Angela, Viola, Laura, Bergmann, Anke Katharina, Rocha, Maria Eugenia, Peart, LeShon, Castro-Rojas, Derly Liseth, Bültmann, Eva, Khan, Suliman, Giarrana, Miriam Liliana, Teleanu, Raluca Ioana, Gonzalez, Joanna Michelle, Pini, Antonella, Schädlich, Ines Sophie, Vill, Katharina, Brugger, Melanie, Zuchner, Stephan, Pinto, Andreia, Donkervoort, Sandra, Bivona, Stephanie Ann, Riza, Anca, Streata, Ioana, Gläser, Dieter, Baquero-Montoya, Carolina, Garcia-Restrepo, Natalia, Kotzaeridou, Urania, Brunet, Theresa, Epure, Diana Anamaria, Bertoli-Avella, Aida, Kariminejad, Ariana, Tekin, Mustafa, von Hardenberg, Sandra, Bönnemann, Carsten G., Stettner, Georg M., Zanni, Ginevra, Kayserili, Hülya, Oflazer, Zehra Piraye, Escande-Beillard, Nathalie

“…SNURPORTIN-1, encoded by SNUPN , plays a central role in the nuclear import of spliceosomal small nuclear ribonucleoproteins. However, its physiological…”
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Telefarmácia no Autocuidado apoiado em pessoas com Diabetes na Atenção Primária durante a Pandemia de Covid-19 by Tavares Pessoa de Souza, Nivia, De França Fonteles, Maria Marta, Pinheiro Queiroz, Reijane Maria, Rodrigues Romero, Nirla, Nobre de Souza, Yasmin, Rocha Oliveira, Eugênia Maria, Alves Tomás, Sinara

“…Introdução: O atendimento à saúde por meio de intervenção telefônica vem sendo utilizado como alternativa às necessidades de cuidado no contexto da pandemia de…”
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Diversity of decapod crustaceans in a neotropical coastal lagoon interconnected with the sea/estuary by Rocha-Gomes, Maria Eugênia, Lane-Medeiros, Laiane Lucena, Araújo, Paulo Victor do Nascimento, Vale, Valéria Fonseca, Moraes, Sávio Arcanjo Santos Nascimento, Freire, Fúlvio Aurélio Morais, Alencar, Carlos Eduardo R.D.

“…Coastal lagoons are aquatic environments that are located at the coast-sea interface. Ecologically important, they harbor a high abundance of…”
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Primer reporte de parásitos gastrointestinales en Jirafas (Giraffa camelopardalis reticulata) de cautiverio, Guanacaste, Costa Rica by Palacios Quirós, Esteban, Jiménez Rocha, Ana Eugenia, Pivovarova, Tania

“…La jirafa (Giraffa camelopardalis reticulata), es una especie de ungulado poligástrico, originario del continente africano cuyas poblaciones en cautiverio han…”
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Uma abordagem discursiva das estratégias de legitimação do telejornalismo by Schwartz, Clarissa, Barichello, Eugenia Mariano da Rocha

“…Este artigo discute os processos de legitimação do telejornalismo brasileiro a partir da identificação e análise de estratégias discursivas acionadas pelo…”
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Sobrevivencia de las fases preparasíticas de nematodos gastrointestinales en bocashi elaborado con estiércol vacuno by Jiménez, Ana Eugenia, Orozco Aceves, Martha, Hernández, Jorge L

“… The aim of this study was to determine the survival of pre-parasitic stages (eggs and larvae) of gastrointestinal nematodes (GN) in Bocashi made from cattle…”
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A tétrade mcluhaniana como método para investigar as reconfigurações do jornalismo no ecossistema midiático by Mariano da Rocha Barichello, Eugenia Maria, Teixeira Weber Dall Agnese, Carolina

“…neste texto de reflexao teorico-metodologica, discute-se a adocao da tétrade de McLuhan e McLuhan (1988) como metodo para compor percursos de pesquisa que…”
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Biallelic TERT variant leads to Hoyeraal–Hreidarsson syndrome with additional dyskeratosis congenita findings by Çepni, Ece, Satkın, Nihan Bilge, Moheb, Lia Abbasi, Rocha, Maria Eugenia, Kayserili, Hülya

“…Short telomere syndromes constitute a heterogeneous group of clinical conditions characterized by short telomeres and impaired telomerase activity due to…”
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Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis by Arora, Veronica, Khan, Suliman, El-Hattab, Ayman W, Dua Puri, Ratna, Rocha, Maria Eugenia, Merdzanic, Rijad, Paknia, Omid, Beetz, Christian, Rolfs, Arndt, Bertoli-Avella, Aida M, Bauer, Peter, Verma, Ishwar C

“…Congenital anomalies of the kidney and urinary tract (CAKUT) are one of the most common malformations identified in the fetal stage. Bilateral renal agenesis…”
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