Long-term persistence of clinical symptoms in dengue-infected persons and its association with immunological disorders
García, Gissel, González, Narjara, Pérez, Ana Beatriz, Sierra, Beatriz, Aguirre, Eglis, Rizo, Damaris, Izquierdo, Alienys, Sánchez, Lizet, Díaz, Danay, Lezcay, Magnolia, Pacheco, Betsi, Hirayama, Kenji, Guzmán, Maria G
Published in International journal of infectious diseases (01.01.2011)
Published in International journal of infectious diseases (01.01.2011)
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Journal Article
Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome
Marneros, Alexander G., Beck, Anita E., Turner, Emily H., McMillin, Margaret J., Edwards, Matthew J., Field, Michael, de Macena Sobreira, Nara Lygia, Perez, Ana Beatriz A., Fortes, Jose A.R., Lampe, Anne K., Giovannucci Uzielli, Maria Luisa, Gordon, Christopher T., Plessis, Ghislaine, Le Merrer, Martine, Amiel, Jeanne, Reichenberger, Ernst, Shively, Kathryn M., Cerrato, Felecia, Labow, Brian I., Tabor, Holly K., Smith, Joshua D., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.
Published in American journal of human genetics (04.04.2013)
Published in American journal of human genetics (04.04.2013)
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Journal Article
Generation of two human induced pluripotent stem cell (hiPSC) lines derived from unrelated Marfan Syndrome patients
Borsoi, Juliana, Morato-Marques, Mariana, de Araújo Tofoli, Fabiano, Assis Pereira, Lucas, Farinha-Arcieri, Luis Ernesto, Delgado Sarafian, Raquel, Alvarez Perez, Ana Beatriz, Veiga Pereira, Lygia
Published in Stem cell research (01.07.2021)
Published in Stem cell research (01.07.2021)
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Journal Article
A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
Migliavacca, Michele Patricia, Fock, Rodrigo Ambrosio, Almeida, Nadia, Cavalcanti, Thereza, Villela, Darine, Perez, Ana Beatriz Alvarez, Valle, David, Wohler, Elizabeth, Sobreira, Nara Lygia de Macena, Raskin, Salmo
Published in Revista paulista de pediatria (01.01.2023)
Published in Revista paulista de pediatria (01.01.2023)
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Journal Article
Genetic mechanisms leading to primary amenorrhea in balanced X-autosome translocations
Moysés-Oliveira, Mariana, M.Sc, Guilherme, Roberta dos Santos, M.Sc, Dantas, Anelisa Gollo, B.S, Ueta, Renata, B.S, Perez, Ana Beatriz, Ph.D, Haidar, Mauro, Ph.D, Canonaco, Rosane, M.D, Meloni, Vera Ayres, M.D, Kosyakova, Nadezda, Ph.D, Liehr, Thomas, Ph.D, Carvalheira, Gianna Maria, Ph.D, Melaragno, Maria Isabel, Ph.D
Published in Fertility and sterility (01.05.2015)
Published in Fertility and sterility (01.05.2015)
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Journal Article
Gomez–López–Hernández syndrome: A case report with clinical and molecular evaluation and literature review
Perrone, Eduardo, D'Almeida, Vânia, Macena Sobreira, Nara Lygia, Mello, Claudia Berlim, Oliveira, Allan Chiaratti, Burlin, Stênio, Soares, Maria de Fátima de Faria, Cernach, Mirlene Cecília Soares Pinho, Alvarez Perez, Ana Beatriz
Published in American journal of medical genetics. Part A (01.07.2020)
Published in American journal of medical genetics. Part A (01.07.2020)
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Journal Article
Dengue specific immunoglobulins M, A, and E in primary and secondary dengue 4 infected salvadorian children
Vazquez, Susana, Lozano, Celina, Perez, Ana Beatriz, Castellanos, Yinet, Ruiz, Didye, Calzada, Naifi, Guzmán, Maria Guadalupe
Published in Journal of medical virology (01.09.2014)
Published in Journal of medical virology (01.09.2014)
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Journal Article
Duplication 9p and their implication to phenotype
Guilherme, Roberta Santos, Meloni, Vera Ayres, Perez, Ana Beatriz Alvarez, Pilla, Ana Luiza, de Ramos, Marco Antonio Paula, Dantas, Anelisa Gollo, Takeno, Sylvia Satomi, Kulikowski, Leslie Domenici, Melaragno, Maria Isabel
Published in BMC genetics (20.12.2014)
Published in BMC genetics (20.12.2014)
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Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants
D'Angelo, Carla Sustek, Kohl, Ilana, Varela, Monica Castro, de Castro, Cláudia Irene Emílio, Kim, Chong Ae, Bertola, Débora Romeo, Lourenço, Charles Marques, Perez, Ana Beatriz Alvarez, Koiffmann, Celia Priszkulnik
Published in American journal of medical genetics. Part A (01.03.2013)
Published in American journal of medical genetics. Part A (01.03.2013)
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Journal Article
Molecular analysis of homocystinuria in Brazilian patients
Porto, Marianna P.R., Galdieri, Luciano C., Pereira, Vanessa G., Vergani, Naja, da Rocha, José Cláudio C., Micheletti, Cecília, Martins, Ana Maria, Perez, Ana Beatriz A., D`Almeida, Vânia
Published in Clinica chimica acta (01.12.2005)
Published in Clinica chimica acta (01.12.2005)
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Journal Article
Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion
Migliavacca, Michele P., Sobreira, Nara L. M., Antonialli, Graziela P.M., Oliveira, Mariana M., Melaragno, Maria Isabel S.A., Casteels, Ingele, de Ravel, Thomy, Brunoni, Decio, Valle, David, Perez, Ana Beatriz A.
Published in American journal of medical genetics. Part A (01.05.2014)
Published in American journal of medical genetics. Part A (01.05.2014)
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Journal Article
Relationship between polymorphisms in genes involved in homocysteine metabolism and maternal risk for Down syndrome in Brazil
da Silva, Luciana Rodrigues Jacy, Vergani, Naja, Galdieri, Luciano de Camargo, Ribeiro Porto, Marianna Picarelli, Longhitano, Silvia Bragagnolo, Brunoni, Decio, D'Almeida, Vânia, Alvarez Perez, Ana Beatriz
Published in American journal of medical genetics. Part A (15.06.2005)
Published in American journal of medical genetics. Part A (15.06.2005)
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Journal Article
Spinal muscular atrophy due to a “de novo” 1.3 Mb deletion: Implication for genetic counseling
da Silva, Luciana Rodrigues Jacy, Colovati, Mileny Esbravatti Stephano, Coprerski, Bruno, de Andrade, Carlos Eugênio Fernandez, Zanoteli, Edmar, Raskin, Salmo, Oliveira, Mariana Moysés, Melaragno, Maria Isabel, Perez, Ana Beatriz Alvarez
Published in Neuromuscular disorders : NMD (01.05.2013)
Published in Neuromuscular disorders : NMD (01.05.2013)
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Journal Article
Distribution of anemia associated with micronutrient deficiencies other than iron in a probabilistic sample of Mexican children
Villalpando, Salvador, Pérez-Expósito, Ana Beatriz, Shamah-Levy, Teresa, Rivera, Juan A.
Published in Annals of nutrition and metabolism (01.01.2006)
Published in Annals of nutrition and metabolism (01.01.2006)
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Journal Article
Use of the Internet to report congenital malformations on birth certificates at four public maternity hospitals in the city of São Paulo, Brazil
De Nicola, Pablo Domingos Rodrigues, Cernach, Mirlene Cecília Soares Pinho, Perez, Ana Beatriz Alvarez, Brunoni, Decio
Published in Cadernos de saúde pública (01.07.2010)
Published in Cadernos de saúde pública (01.07.2010)
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