Search Results - "Orioli, Iêda Maria"

Molecular analysis of holoprosencephaly in South America by Savastano, Clarice Pagani, El-Jaick, Kênia Balbi, Costa-Lima, Marcelo Aguiar, Abath, Cristina Maria Batista, Bianca, Sebastiano, Cavalcanti, Denise Pontes, Félix, Têmis Maria, Scarano, Gioacchino, Llerena, Jr, Juan Clinton, Vargas, Fernando Regla, Moreira, Miguel Ângelo Martins, Seuánez, Hector N, Castilla, Eduardo Enrique, Orioli, Iêda Maria

“…Holoprosencephaly (HPE) is a spectrum of brain and facial malformations primarily reflecting genetic factors, such as chromosomal abnormalities and gene…”
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Sentinel phenotype for rubella embryopathy: time-space distribution in Brazil by Orioli, Iêda Maria, Camelo, Jorge S López, Rittler, Monica, Castilla, Eduardo E

“…The dyad comprising eye anomalies and congenital heart defects in the same newborn has been proposed as the best sentinel phenotype for the early detection of…”
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The Latin American network for congenital malformation surveillance: ReLAMC by Orioli, Iêda Maria, Dolk, Helen, Lopez‐Camelo, Jorge, Groisman, Boris, Benavides‐Lara, Adriana, Gimenez, Lucas Gabriel, Correa, Daniel Mattos, Ascurra, Marta, Bonilha, Eliana, Canessa‐Tapia, Maria Aurora, França, Giovanny Vinícius Araújo, Hurtado‐Villa, Paula, Ibarra‐Ramírez, Marisol, Pardo, Rosa, Pastora, Dania Maria, Zarante, Ignacio, Soares, Flávia Schneider, Carvalho, Flávia Martinez, Piola, Mariana

“…The early detection of congenital anomaly epidemics occurs when comparing current with previous frequencies in the same population. The success of…”
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A large, ten‐generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies by Álvarez, Luis Francisco González, Tenorio‐Castaño, Jair, Poletta, Fernando A., Santos‐Simarro, Fernando, Arias, Pedro, Gallego, Natalia, Orioli, Iêda Maria, Mundlos, Stefan, Castilla, Eduardo E., Martínez‐Glez, Víctor, Martínez‐Frías, María Luisa, Ruiz‐Pérez, Víctor L., Nevado, Julián, Lapunzina, Pablo

“…We present a large, ten‐generation family of 273 individuals with 84 people having preaxial polydactyly/triphalangeal thumb due to a pathogenic variant in the…”
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Association of methylenetetrahydrofolate reductase gene 677C > T polymorphism and Down syndrome by Costa-Lima, Marcelo Aguiar, Amorim, Márcia Rodrigues, Orioli, Iêda Maria

“…The association between Down syndrome (DS) and maternal polymorphisms in genes encoding folic acid metabolizing enzymes remains a controversial issue. A…”
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New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly by de Castro, Viviane Freitas, Mattos, Daniel, de Carvalho, Flavia Martinez, Cavalcanti, Denise Pontes, Duenas-Roque, Milagros M., Llerena Jr, Juan, Cosentino, Viviana Raquel, Honjo, Rachel Sayuri, Leite, Julio Cesar Loguercio, Sanseverino, Maria Teresa, de Souza, Márcia Pereira Alves, Bernardi, Pricila, Bolognese, Ana Maria, Santana da Silva, Luiz Carlos, Barbero, Pablo, Correia, Patricia Santana, Bueno, Larissa Souza Mario, Savastano, Clarice Pagani, Orioli, Iêda Maria

“…Holoprosencephaly (HPE) is the failure of the embryonic forebrain to develop into 2 hemispheres promoting midline cerebral and facial defects. The wide…”
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Effects of folic acid fortification on spina bifida prevalence in Brazil by Orioli, Iêda Maria, Lima do Nascimento, Ricardo, López-Camelo, Jorge Santiago, Castilla, Eduardo Enrique

“…BACKGROUND: To assess spina bifida birth prevalence changes after folic acid fortification of wheat and maize flours began in Brazil in June 2004. METHODS:…”
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Rare nasal cleft in a patient with holoprosencephaly due to a mutation in the ZIC2 gene by Savastano, Clarice Pagani, Bernardi, Pricila, Seuánez, Hector N., Moreira, Miguel Ângelo Martins, Orioli, Iêda Maria

“…BACKGROUND Holoprosencephaly (HPE) is a spectrum of midline malformations of the prosencephalon generally reflected in a continuum of midline facial anomalies…”
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Use of infectious disease surveillance reports to monitor the Zika virus epidemic in Latin America and the Caribbean from 2015 to 2017: strengths and deficiencies by Morris, Joan K, Dolk, Helen, Durán, Pablo, Orioli, Ieda Maria

“…ObjectivesTo summarise the occurrence of congenital Zika syndrome (CZS) in Latin America and the Caribbean from 2015 to 2017 using two outcome measures derived…”
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Beare-Stevenson cutis gyrata syndrome: A new case of a c.1124C↷G (Y375C) mutation in the FGFR2 gene by Fonseca, Renata Fragelli, Costa-Lima, Marcelo Aguiar, Pereira, Eliana Ternes, Castilla, Eduardo Enrique, Orioli, Iêda Maria

“…Beare-Stevenson syndrome (BSS) (MIM#123790) is a rare disorder characterized by craniofacial anomalies and cutis gyrata associated with anogenital anomalies…”
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Differential expression of the IRF6 gene in the signs of Van der Woude Syndrome: Are distinct genetic modifiers operating? by Lisboa, Rosany De Oliveira, Martins, Cláudia Maria da Rocha, Santos, Maria Elisabete Silva, Pereira, Danilo Leôncio Aguiar, Carvalho, Flávia Martinez de, Orioli, Ieda Maria, Guerreiro, João Farias, Vieira, Alexandre Rezende, Santana-da-Silva, Luiz Carlos

“…Objective: The purpose of this study was to report a new variant in the Interferon Regulatory Factor 6 gene (IRF6) and to determine phenotype-genotype…”
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Uniparental ancestry markers in Chilean populations by Vieira-Machado, Camilla Dutra, Tostes, Maluah, Alves, Gabrielle, Nazer, Julio, Martinez, Liliana, Wettig, Elisabeth, Pizarro Rivadeneira, Oscar, Diaz Caamaño, Marcela, Larenas Ascui, Jessica, Pavez, Pedro, Dutra, Maria da Graça, Castilla, Eduardo Enrique, Orioli, Ieda Maria

“…The presence of Native Americans, Europeans, and Africans has led to the development of a multi-ethnic, admixed population in Chile. This study aimed to…”
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SISTEMAS DE VIGILANCIA DE ANOMALÍAS CONGÉNITAS EN AMÉRICA LATINA Y EL CARIBE by Zarante, Ignacio, Liascovich, Rosa, Orioli, Ieda Maria, Larrandaburu, Mariela

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Sentinel phenotype for rubella embryopathy: time-space distribution in Brazil by Iêda Maria Orioli, Jorge S. López Camelo, Monica Rittler, Eduardo E. Castilla

“…The dyad comprising eye anomalies and congenital heart defects in the same newborn has been proposed as the best sentinel phenotype for the early detection of…”
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No association of the polyhistidine tract polymorphism of the ZIC2 gene with neural tube defects in a South American (ECLAMC) population by Costa-Lima, Marcelo A, Meneses, Heloisa N M, El-Jaick, Kenia B, Amorim, Márcia R, Castilla, Eduardo E, Orioli, Iêda M

“…The ZIC genes comprise a family of transcriptional factors associated with neural tube defects (NTDs) in mice and with holoprosencephaly in humans. An allelic…”
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Complex segregation analysis of 1,792 cleft lip and palate families in South America: 1967-1997 by Vieira, Alexandre Rezende, Romitti, Paul Anthony, Orioli, Iêda Maria, Castilla, Eduardo Enrique

“…Although several studies have demonstrated familial aggregation of nonsyndromic cleft lip with or without cleft palate (CL/P), its model of inheritance remains…”
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Can amputated digits point to clues about etiology? by Ribeiro, Márcia Gonçalves, Castilla, Eduardo E., Orioli, Iêda Maria

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Segregation distortion in the offspring of Afro-American fathers with postaxial polydactyly by ORIOLI, I. M

“…The unclear pattern of inheritance of postaxial polydactyly prompted this search for evidence of imprinting or change of expression in males and females using…”
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Pregnancy outcome after exposure to misoprostol in Brazil: a prospective, controlled study by Schüler, Lavínia, Pastuszak, Anne, Sanseverino, Maria Teresa V., Orioliz, Ieda Maria, Brunoni, Decio, Ashton–Prolla, Patricia, da Costa, Fabricio Silva, Giugliani, Roberto, Couto, Aline Mallman, Brandao, Suzan Brancher, Koren, Gideon

“…Background: Misoprostol, a synthetic prostaglandin E1 analog is labeled for the treatment of gastric and duodenal ulcers. In Brazil, where abortion is not a…”
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Male to male transmission of supernumerary nipples by Orioli, Iêda Maria, Gonĉalves Ribeiro, Márcia, Castilla, Eduardo E.

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