Pesquisa | Biblioteca Virtual em Saúde

1.

Impact of the COVID-19 pandemic on the mental health of frontline healthcare workers in a highly affected region in Brazil.

Cohen, Mírian; Cruz, Luciane Nascimento; Cardoso, Ricardo Bertoglio; Albuquerque, Maria de Fátima Pessoa Militão de; Montarroyos, Ulisses Ramos; de Souza, Wayner Vieira; Ludermir, Ana Bernarda; de Carvalho, Maria Rosimery; da Silva Vicente, Julianne Damiana; Viegas Filho, Marcelo Paulino; Cortes, Fanny Julia Mireille; de Siqueira Silva, Marina Teixeira; Almeida, Carla Menezes Cavalcante; Lima, Luana Nepomuceno Gondim Costa; Veras, Maria Amelia de Sousa Mascena; Kendall, Carl; Kerr, Ligia Regina Franco Sansigolo; Martelli, Celina Maria Turchi; Camey, Suzi Alves.

BMC Psychiatry ; 23(1): 255, 2023 04 17.

Artigo em Inglês | MEDLINE | ID: mdl-37069533

2.

Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients.

Llerena, Juan; Kim, Chong Ae; Fano, Virginia; Rosselli, Pablo; Collett-Solberg, Paulo Ferrez; de Medeiros, Paula Frassinetti Vasconcelos; Del Pino, Mariana; Bertola, Débora; Lourenço, Charles Marques; Cavalcanti, Denise Pontes; Félix, Têmis Maria; Rosa-Bellas, Antonio; Rossi, Norma Teresa; Cortes, Fanny; Abreu, Flávia; Cavalcanti, Nicolette; Ruz, Maria Cecilia Hervias; Baratela, Wagner.

BMC Pediatr ; 22(1): 492, 2022 08 19.

Artigo em Inglês | MEDLINE | ID: mdl-35986266

3.

Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications.

Castiglioni, Claudia; Feillet, François; Barnerias, Christine; Wiedemann, Arnaud; Muchart, Jordi; Cortes, Fanny; Hernando-Davalillo, Cristina; Montero, Raquel; Dupré, Thierry; Bruneel, Arnaud; Seta, Nathalie; Vuillaumier-Barrot, Sandrine; Serrano, Mercedes.

Hum Mutat ; 42(2): 142-149, 2021 02.

Artigo em Inglês | MEDLINE | ID: mdl-33300232

4.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Koczkowska, Magdalena; Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha D; Sharp, Angela; Johns, Eric; Uhas, Kim Armfield; Armstrong, Linlea; Bosanko, Katherine Armstrong; Babovic-Vuksanovic, Dusica; Baker, Laura; Basel, Donald G; Bengala, Mario; Bennett, James T; Chambers, Chelsea; Clarkson, Lola K; Clementi, Maurizio; Cortés, Fanny M; Cunningham, Mitch; D'Agostino, M Daniela; Delatycki, Martin B; Digilio, Maria C; Dosa, Laura; Esposito, Silvia; Fox, Stephanie; Freckmann, Mary-Louise; Fauth, Christine; Giugliano, Teresa; Giustini, Sandra; Goetsch, Allison; Goldberg, Yael; Greenwood, Robert S; Griffis, Cristin; Gripp, Karen W; Gupta, Punita; Haan, Eric; Hachen, Rachel K; Haygarth, Tamara L; Hernández-Chico, Concepción; Hodge, Katelyn; Hopkin, Robert J; Hudgins, Louanne; Janssens, Sandra; Keller, Kory; Kelly-Mancuso, Geraldine; Kochhar, Aaina; Korf, Bruce R; Lewis, Andrea M; Liebelt, Jan.

Hum Mutat ; 41(1): 299-315, 2020 01.

Artigo em Inglês | MEDLINE | ID: mdl-31595648

5.

Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades.

Lacassie, Yves; Johnson, Britt; Lay-Son, Guillermo; Quintana, Rita; King, Andrew; Cortes, Fanny; Alvarez, Cecilia; Gomez, Ricardo; Vargas, Alfonso; Chalew, Stuart; King, Alejandra; Guardia, Sylvia; Sorensen, Ricardo U; Aradhya, Swaroop.

Am J Med Genet A ; 182(7): 1767-1775, 2020 07.

Artigo em Inglês | MEDLINE | ID: mdl-32297715

6.

[Collagen VI related myopathies. When to suspect, how to identify. The contribution of muscle magnetic resonance]. / Miopatías relacionadas a colágeno VI. Cuando sospecharlas, cómo identificarlas. Aporte de la resonancia magnética muscular.

Suárez, Bernardita; Lozano-Arango, Andrés; Araneda, Diego; Cortés, Fanny; Hervias, Cecilia; Calcagno, Giancarlo; Ortega, Ximena; Castiglioni, Claudia.

Rev Chil Pediatr ; 89(3): 399-408, 2018 Jun.

Artigo em Espanhol | MEDLINE | ID: mdl-29999148

7.

[Congenital anomalies of poor prognosis. Genetics Consensus Committee]. / Consenso de la Rama de Genética de la Sociedad Chilena de Pediatría sobre las anomalías congénitas de mal pronóstico vital (ACMPV).

Pardo Vargas, Rosa A; Aracena, Mariana; Aravena, Teresa; Cares, Carolina; Cortés, Fanny; Faundes, Víctor; Mellado, Cecilia; Passalacqua, Cristóbal; Sanz, Patricia; Castillo Taucher, Silvia.

Rev Chil Pediatr ; 87(5): 422-431, 2016.

Artigo em Espanhol | MEDLINE | ID: mdl-27234469

8.

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Rojnueangnit, Kitiwan; Xie, Jing; Gomes, Alicia; Sharp, Angela; Callens, Tom; Chen, Yunjia; Liu, Ying; Cochran, Meagan; Abbott, Mary-Alice; Atkin, Joan; Babovic-Vuksanovic, Dusica; Barnett, Christopher P; Crenshaw, Melissa; Bartholomew, Dennis W; Basel, Lina; Bellus, Gary; Ben-Shachar, Shay; Bialer, Martin G; Bick, David; Blumberg, Bruce; Cortes, Fanny; David, Karen L; Destree, Anne; Duat-Rodriguez, Anna; Earl, Dawn; Escobar, Luis; Eswara, Marthanda; Ezquieta, Begona; Frayling, Ian M; Frydman, Moshe; Gardner, Kathy; Gripp, Karen W; Hernández-Chico, Concepcion; Heyrman, Kurt; Ibrahim, Jennifer; Janssens, Sandra; Keena, Beth A; Llano-Rivas, Isabel; Leppig, Kathy; McDonald, Marie; Misra, Vinod K; Mulbury, Jennifer; Narayanan, Vinodh; Orenstein, Naama; Galvin-Parton, Patricia; Pedro, Helio; Pivnick, Eniko K; Powell, Cynthia M; Randolph, Linda; Raskin, Salmo.

Hum Mutat ; 36(11): 1052-63, 2015 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-26178382

9.

Wheat flour fortification with folic acid: changes in neural tube defects rates in Chile.

Cortés, Fanny; Mellado, C; Pardo, R A; Villarroel, L A; Hertrampf, E.

Am J Med Genet A ; 158A(8): 1885-90, 2012 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-22711368

10.

Patterns of multimorbidity and some psychiatric disorders: A systematic review of the literature.

Castro-de-Araujo, Luis Fernando Silva; Cortes, Fanny; de Siqueira Filha, Noêmia Teixeira; Rodrigues, Elisângela da Silva; Machado, Daiane Borges; de Araujo, Jacyra Azevedo Paiva; Lewis, Glyn; Denaxas, Spiros; Barreto, Mauricio L.

Front Psychol ; 13: 940978, 2022.

Artigo em Inglês | MEDLINE | ID: mdl-36186392

11.

Observations from a nationwide vigilance program in medical care for spinal muscular atrophy patients in Chile.

Alvarez, Karin; Suarez, Bernardita; Palomino, María Angélica; Hervias, Cecilia; Calcagno, Giancarlo; Martínez-Jalilie, Maripaz; Lozano-Arango, Andrés; Lillo, Susana; Haro, Mariana; Cortés, Fanny; Pantoja, Samuel; Chahin, Andrés; Orellana, Paulina; Bevilacqua, Jorge A; Bertini, Enrico; Castiglioni, Claudia.

Arq Neuropsiquiatr ; 77(7): 470-477, 2019 07 29.

Artigo em Inglês | MEDLINE | ID: mdl-31365638

12.

National food-fortification program with folic acid in Chile.

Hertrampf, Eva; Cortés, Fanny.

Food Nutr Bull ; 29(2 Suppl): S231-7, 2008 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-18709898

13.

Scoping review on vector-borne diseases in urban areas: transmission dynamics, vectorial capacity and co-infection.

Eder, Marcus; Cortes, Fanny; Teixeira de Siqueira Filha, Noêmia; Araújo de França, Giovanny Vinícius; Degroote, Stéphanie; Braga, Cynthia; Ridde, Valéry; Turchi Martelli, Celina Maria.

Infect Dis Poverty ; 7(1): 90, 2018 Sep 03.

Artigo em Inglês | MEDLINE | ID: mdl-30173661

14.

Time series analysis of dengue surveillance data in two Brazilian cities.

Cortes, Fanny; Turchi Martelli, Celina Maria; Arraes de Alencar Ximenes, Ricardo; Montarroyos, Ulisses Ramos; Siqueira Junior, João Bosco; Gonçalves Cruz, Oswaldo; Alexander, Neal; Vieira de Souza, Wayner.

Acta Trop ; 182: 190-197, 2018 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-29545150

15.

Cost-effectiveness of a folic acid fortification program in Chile.

Llanos, Adolfo; Hertrampf, Eva; Cortes, Fanny; Pardo, Andrea; Grosse, Scott D; Uauy, Ricardo.

Health Policy ; 83(2-3): 295-303, 2007 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-17363103

16.

Economic Impact of Dengue: Multicenter Study across Four Brazilian Regions.

Martelli, Celina Maria Turchi; Siqueira, Joao Bosco; Parente, Mirian Perpetua Palha Dias; Zara, Ana Laura de Sene Amancio; Oliveira, Consuelo Silva; Braga, Cynthia; Pimenta, Fabiano Geraldo; Cortes, Fanny; Lopez, Juan Guillermo; Bahia, Luciana Ribeiro; Mendes, Marcia Costa Ooteman; da Rosa, Michelle Quarti Machado; de Siqueira Filha, Noemia Teixeira; Constenla, Dagna; de Souza, Wayner Vieira.

PLoS Negl Trop Dis ; 9(9): e0004042, 2015.

Artigo em Inglês | MEDLINE | ID: mdl-26402905

17.

A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate.

Rojas, Cecilia V; María, Lorena Santa; Santos, José Luis; Cortés, Fanny; Alliende, María Angélica.

Eur J Hum Genet ; 10(10): 638-42, 2002 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-12357335

18.

Folic acid fortification of wheat flour: Chile.

Hertrampf, Eva; Cortés, Fanny.

Nutr Rev ; 62(6 Pt 2): S44-8; discussion S49, 2004 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-15298448

19.

Observations from a nationwide vigilance program in medical care for spinal muscular atrophy patients in Chile / Atrofia muscular espinal en Chile, resultados de un programa de atención médica nacional

Alvarez, Karin; Suarez, Bernardita; Palomino, María Angélica; Hervias, Cecilia; Calcagno, Giancarlo; Martínez-Jalilie, Maripaz; Lozano-Arango, Andrés; Lillo, Susana; Haro, Mariana; Cortés, Fanny; Pantoja, Samuel; Chahin, Andrés; Orellana, Paulina; Bevilacqua, Jorge A; Bertini, Enrico; Castiglione, Claudia.

Arq. neuropsiquiatr ; 77(7): 470-477, July 2019. tab, graf

Artigo em Inglês | LILACS | ID: biblio-1011362

20.

Miopatías relacionadas a colágeno VI: cuando sospecharlas, cómo identificarlas: aporte de la resonancia magnética muscular / Collagen VI related myopathies: when to suspect, how to identify: the contribution of muscle magnetic resonance