The Syndrome of Frontonasal Dysplasia, Callosal Agenesis, Basal Encephalocele, and Eye Anomalies – Phenotypic and Aetiological Considerations

Por Richieri-Costa, Antonio, Guion-Almeida, Maria Leine
Publicado em 2004

Ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patients

Por Guion-Almeida, Maria Leine, Vendramini-Pittoli, Siulan, Richieri-Costa, Antonio
Publicado em 2007

Cleft Lip/Palate, Short Stature, and Developmental Delay in a Boy with a 5.6-Mb Interstitial Deletion Involving 10p15.3p14

Por Gamba, Bruno F., Rosenberg, Carla, Costa, Silvia, Richieri-Costa, Antonio, Ribeiro-Bicudo, Lucilene A.
Publicado no Mol Syndromol (2015)

Clinical findings in children with congenital anomalies and misoprostol intrauterine exposure: a study of 38 cases

Por Vendramini-Pittoli, Siulan, Guion-Almeida, Maria L., Richieri-Costa, Antonio, Santos, Juliana M., Kokitsu-Nakata, Nancy M.
Publicado no J Pediatr Genet (2013)

Clinical findings in patients with GLI2 mutations – phenotypic variability

Por Bertolacini, Claudia Danielli Pereira, Ribeiro-Bicudo, Lucilene Arilho, Petrin, Aline da Silva, Richieri-Costa, Antonio, Murray, Jeffrey C.
Publicado em 2011

Birth defects in newborns and stillborns: an example of the Brazilian reality

Por Oliveira, Camila Ive Ferreira, Richieri-Costa, Antonio, Carvalho Ferrarese, Valéria Cristina, Móz Vaz, Denise Cristina, Fett-Conte, Agnes Cristina
Publicado em 2011

Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings

Por Richieri-Costa, Antonio, Vendramini-Pittoli, Siulan, Kokitsu-Nakata, Nancy Mizue, Zechi-Ceide, Roseli Maria, Alvarez, Camila Wenceslau, Ribeiro-Bicudo, Lucilene Arilho
Publicado no J Pediatr Genet (2016)

Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort

Por Ribeiro, Lucilene A., Roessler, Erich, Hu, Ping, Pineda-Alvarez, Daniel E., Zhou, Nan, Jones, MaryPat, Chandrasekharappa, Settara, Richieri-Costa, Antonio, Muenke, Maximilian
Publicado em 2012

Identification of a 7q33-q35 microdeletion disrupting the CNTNAP2 gene in a Brazilian Stuttering case

Por Petrin, Aline L, Giacheti, Célia M, Maximino, Luciana P, Abramides, Dagma V M, Zanchetta, Sthella, Rossi, Natalia F., Richieri-Costa, Antonio, Murray, Jeffrey C
Publicado em 2010

High Dosage Folic Acid Supplementation, Oral Cleft Recurrence and Fetal Growth

Por Wehby, George L., Félix, Têmis Maria, Goco, Norman, Richieri-Costa, Antonio, Chakraborty, Hrishikesh, Souza, Josiane, Pereira, Rui, Padovani, Carla, Moretti-Ferreira, Danilo, Murray, Jeffrey C.
Publicado em 2013

Analysis of MLL2 genein the first Brazilian family with Kabuki syndrome

Por Kokitsu-Nakata, Nancy Mizue, Petrin, Aline Lourenço, Heard, Jason Paul, Vendramini-Pittoli, Siulan, Henkle, Laura E, dos Santos, Daniela Vera Cruz, Murray, Jeffrey Clark, Richieri-Costa, Antonio
Publicado em 2012

Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome

Por Hong, Sungkook, Hu, Ping, Marino, Juliana, Hufnagel, Sophia B., Hopkin, Robert J., Toromanović, Alma, Richieri-Costa, Antonio, Ribeiro-Bicudo, Lucilene A., Kruszka, Paul, Roessler, Erich, Muenke, Maximilian
Publicado no Hum Mol Genet (2016)

Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability

Por Gamba, Bruno F., Zechi-Ceide, Roseli M., Kokitsu-Nakata, Nancy M., Vendramini-Pittoli, Siulan, Rosenberg, Carla, Krepischi Santos, Ana C.V., Ribeiro-Bicudo, Lucilene, Richieri-Costa, Antonio
Publicado no Mol Syndromol (2016)

Unique Alterations of an Ultraconserved Non-Coding Element in the 3′UTR of ZIC2 in Holoprosencephaly

Por Roessler, Erich, Hu, Ping, Hong, Sung-Kook, Srivastava, Kshitij, Carrington, Blake, Sood, Raman, Petrykowska, Hanna, Elnitski, Laura, Ribeiro, Lucilene A., Richieri-Costa, Antonio, Feldman, Benjamin, Odenwald, Ward F., Muenke, Maximilian
Publicado em 2012

A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis

Por Nishimura, Agnes L., Mitne-Neto, Miguel, Silva, Helga C. A., Richieri-Costa, Antônio, Middleton, Susan, Cascio, Duilio, Kok, Fernando, Oliveira, João R. M., Gillingwater, Tom, Webb, Jeanette, Skehel, Paul, Zatz, Mayana
Publicado em 2004

Oral cleft prevention program (OCPP)

Por Wehby, George L, Goco, Norman, Moretti-Ferreira, Danilo, Felix, Temis, Richieri-Costa, Antonio, Padovani, Carla, Queiros, Fernanda, Guimaraes, Camilla Vila Nova, Pereira, Rui, Litavecz, Steve, Hartwell, Tyler, Chakraborty, Hrishikesh, Javois, Lorette, Murray, Jeffrey C
Publicado em 2012

EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome

Por Miller, Emily E., Kobayashi, Gerson S., Musso, Camila M., Allen, Miranda, Ishiy, Felipe A.A., de Caires, Luiz Carlos, Goulart, Ernesto, Griesi-Oliveira, Karina, Zechi-Ceide, Roseli M., Richieri-Costa, Antonio, Bertola, Debora R., Passos-Bueno, Maria Rita, Silver, Debra L.
Publicado no Hum Mol Genet (2017)

Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting

Por Saadi, Irfan, Alkuraya, Fowzan S., Gisselbrecht, Stephen S., Goessling, Wolfram, Cavallesco, Resy, Turbe-Doan, Annick, Petrin, Aline L., Harris, James, Siddiqui, Ursela, Grix, Arthur W., Hove, Hanne D., Leboulch, Philippe, Glover, Thomas W., Morton, Cynthia C., Richieri-Costa, Antonio, Murray, Jeffrey C., Erickson, Robert P., Maas, Richard L.
Publicado em 2011

Prevalence and non-random distribution of exonic mutations in Interferon Regulatory Factor 6 (IRF6) in 307 families with Van der Woude syndrome and 37 families with popliteal ptery...

Por Ferreira de Lima, Renata L. L., Hoper, Sarah A., Ghassibe, Michella, Cooper, Margaret E., Rorick, Nicholas K., Kondo, Shinji, Katz, Lori, Marazita, Mary L., Compton, John, Bale, Sherri, Hehr, Ute, Dixon, Michael J., Daack-Hirsch, Sandra, Boute, Odile, Bayet, Bénédicte, Revencu, Nicole, Verellen-Dumoulin, Christine, Vikkula, Miikka, Richieri-Costa, Antônio, Moretti-Ferreira, Danilo, Murray, Jeffrey C., Schutte, Brian C.
Publicado em 2009

A Noncoding Expansion in EIF4A3 Causes Richieri-Costa-Pereira Syndrome, a Craniofacial Disorder Associated with Limb Defects

Por Favaro, Francine P., Alvizi, Lucas, Zechi-Ceide, Roseli M., Bertola, Debora, Felix, Temis M., de Souza, Josiane, Raskin, Salmo, Twigg, Stephen R.F., Weiner, Andrea M.J., Armas, Pablo, Margarit, Ezequiel, Calcaterra, Nora B., Andersen, Gregers R., McGowan, Simon J., Wilkie, Andrew O.M., Richieri-Costa, Antonio, de Almeida, Maria L.G., Passos-Bueno, Maria Rita
Publicado em 2014