Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
Dixon, Michael J, Lidral, Andrew C, Moretti-Ferreira, Danilo, Ardinger, Holly H, Moreno, Lina, Sander, Achim, Arcos-Burgos, Mauricio, Murray, Jeffrey C, Daack-Hirsch, Sandra, Richardson, Rebecca J, Watanabe, Yoriko, Schutte, Brian C, Aylsworth, Arthur S, Kondo, Shinji, Pober, Barbara R, Richieri-Costa, Antonio, Howard, Emma, Bjork, Bryan C, McDonald-McGinn, Donna M, Houdayer, Claude, Ferreira de Lima, Renata L.L, Bahuau, Michel, Lammer, Edward J, Knight, Alexandra S, Valencia, Consuelo, Zackai, Elaine H
Published in Nature genetics (01.10.2002)
Published in Nature genetics (01.10.2002)
Get full text
Journal Article
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome
de Lima, Renata L L Ferreira, 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
Published in Genetics in medicine (01.04.2009)
Published in Genetics in medicine (01.04.2009)
Get full text
Journal Article
Unusual presentation of cystic fibrosis as diffuse dermatitis
Bonfim, Bianca, Mota, Laís, Almeida, Carolina, de Brito Aguiar, Ana, Ferreira de Lima, Renata, de Mattos, Ângela, Souza, Edna
Published in Indian journal of dermatology, venereology, and leprology (01.07.2018)
Published in Indian journal of dermatology, venereology, and leprology (01.07.2018)
Get full text
Journal Article
An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects
Fakhouri, Walid D., Rahimov, Fedik, Attanasio, Catia, Kouwenhoven, Evelyn N., Ferreira De Lima, Renata L., Felix, Temis Maria, Nitschke, Larissa, Huver, David, Barrons, Julie, Kousa, Youssef A., Leslie, Elizabeth, Pennacchio, Len A., Van Bokhoven, Hans, Visel, Axel, Zhou, Huiqing, Murray, Jeffrey C., Schutte, Brian C.
Published in Human molecular genetics (15.05.2014)
Published in Human molecular genetics (15.05.2014)
Get full text
Journal Article
Co-occurrence of achondroplasia and Down syndrome: Genotype/phenotype association
de Azevedo Moreira, Lilia Maria, Matos, Marcos A, Schiper, Patricia P, Carvalho, Acácia F L, Gomes, Ivalda C, Rolemberg, José C, Ferreira de Lima, Renata L L, Toralles, Maria B P
Published in Birth defects research. A Clinical and molecular teratology (01.04.2010)
Published in Birth defects research. A Clinical and molecular teratology (01.04.2010)
Get more information
Journal Article
K162E - A rare and uncategorized CFTR variant causing cystic fibrosis
Souza, Edna Lúcia, Ribeiro Mota, Laís, Leite Ferreira de Lima, Renata Lúcia, Horejs Bittencourt, Paloma, Castro Ribeiro Guedes, Virgínia Maria, Salinas, Danieli
Published in Journal of cystic fibrosis (01.05.2021)
Published in Journal of cystic fibrosis (01.05.2021)
Get full text
Journal Article
Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome
Rorick, Nicholas K., Kinoshita, Akira, Weirather, Jason L., Peyrard-Janvid, Myriam, de Lima, Renata L. L. Ferreira, Dunnwald, Martine, Shanske, Alan L., Moretti-Ferreira, Danilo, Koillinen, Hannele, Kere, Juha, Mansilla, Maria A., Murray, Jeffrey C., Goudy, Steve L., Schutte, Brian C.
Published in American journal of medical genetics. Part A (01.06.2011)
Published in American journal of medical genetics. Part A (01.06.2011)
Get full text
Journal Article
Methylphenidate effects on mice odontogenesis and connections with human odontogenesis
Lima, Karol Sartori, Salles, Antônio Eduardo Sparça, de Araújo Costa, Gabriel, Yokoyama, Márjori Frítola, de Paula Ramos, Solange, Paixão-Côrtes, Vanessa Rodrigues, de Lima, Renata Lúcia Leite Ferreira, Salles, Maria José Sparça
Published in Odontology (01.04.2021)
Published in Odontology (01.04.2021)
Get full text
Journal Article
Clinical profile and quality of life in climacteric women
de Santiago Nogueira, Cíntia Mikaelle Cunha, Silva, Bárbara Daniely Dos Santos, Costa, Hosana Mirelle Goes Silva, de Alcantara, Jussara Rodrigues, Morais, Fátima Raquel Rosado, Ferreira Barros, Renata Janice Morais Lima, Feitosa de Melo Rabelo, Susy Maria, Vieira Pereira, Emanuelly, Lopes de Paiva Cavalcanti, José Rodolfo, Teixeira Fernandes, Natália, de Melo Fialho, Ana Virginia
Published in BMC nursing (23.08.2022)
Published in BMC nursing (23.08.2022)
Get full text
Journal Article
Description of rare mutations and a novel variant in Brazilian patients with Cystic Fibrosis: a case series from a referral center in the Bahia State
Mota, Laís Ribeiro, de Melo Filho, Valmir Machado, de Castro, Lorena Lemos, Garcia, Daniel Fantozzi, Terse-Ramos, Regina, Toralles, Maria Betânia Pereira, de Lima, Renata Lúcia Leite Ferreira, Souza, Edna Lúcia
Published in Molecular biology reports (01.12.2018)
Published in Molecular biology reports (01.12.2018)
Get full text
Journal Article
Case of 15q26-qter deletion associated with a Prader-Willi phenotype
Santos, Jéssica Fernandes dos, Acosta, Angelina Xavier, Scheibler, Gabriela Gayer, Pitanga, Paula Monique Leite, Alves, Esmeralda Santos, Meira, Joanna Goes Castro, Zanardo, Évelin Aline, Kulikowski, Leslie Domenici, Lima, Renata Lúcia Leite Ferreira de, Carvalho, Acácia Fernandes Lacerda de
Published in European journal of medical genetics (01.08.2020)
Published in European journal of medical genetics (01.08.2020)
Get full text
Journal Article
Identifying Genetic Etiology in Patients with Intellectual Disability: An Experience in Public Health Services in Northeastern Brazil
de Carvalho, Acacia Fernandes Lacerda, Alves, Esmeralda Santos, Pitanga, Paula Monique Leite, Ribeiro, Erlane Marques, Doriqui, Maria Juliana Rodovalho, Toralles, Maria Betânia Pereira, Topázio, Bianca Arcaro, Dos Santos, Jéssica Fernandes, de Lima, Renata Lúcia Leite Ferreira, Kulikowski, Leslie Domenici, Acosta, Angelina Xavier
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.06.2024)
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.06.2024)
Get more information
Journal Article
Clinical and Molecular Heterogeneity in Brazilian Patients with Sotos Syndrome
Vieira, Gustavo H., Cook, Melissa M., Ferreira De Lima, Renata L., Frigério Domingues, Carlos E., de Carvalho, Daniel R., Soares de Paiva, Isaias, Moretti-Ferreira, Danilo, Srivastava, Anand K.
Published in Molecular syndromology (01.02.2015)
Published in Molecular syndromology (01.02.2015)
Get full text
Journal Article
Estado de crescimento e nutricional de plantas de ásteres (aster ericoides) CV. Renna primeiro ciclo, devido à omissão nutriente na textura média de oxisol amarelo
Lima, Renata Ferreira, Santos, Romário da Silva, VIÉGAS, Ismael de Jesus Matos, SILVA, Alasse Oliveira, SILVA, Bianca Cavalcante, SILVA, Dioclea Almeida Seabra, GALVÃO, Jessivaldo Rodrigues, DIAS, Paulo Henrique Batista
Published in Brazilian Journal of Development (2020)
Published in Brazilian Journal of Development (2020)
Get full text
Journal Article
Programa Genética & Sociedade: atividade de genética comunitária com ações em pesquisa/ ensino/extensão
Moreira, Lília Maria de Azevedo, Borges, Vinícius Magalhães, Silva, Elaine Regina Jesus, Oliveira, Wiliane Santos de, Vieira, Mônica Jacobina Fonseca, Lima, Renata Lúcia Leite Ferreira de, Rocha, Pedro Henrique Silva Andrade, Mota, Laís Ribeiro, Santos, Jéssica Fernandes dos, Freitas, Lucy Magalhães
Published in Extensio: Revista Eletrônica de Extensão (11.03.2016)
Published in Extensio: Revista Eletrônica de Extensão (11.03.2016)
Get full text
Journal Article
A pílula mágica da gripezinha: a narrativa da cloroquina nos grupos bolsonaristas de WhatsApp durante a pandemia de Covid-19
De Sá Cardoso, Tarcísio, Correia Lima Ferreira Gomes, Renata, Sadao Nakagawa, Fabio, Miranda de Oliveira Nakagawa, Regiane
Published in Fronteiras - estudos midiáticos (14.09.2021)
Published in Fronteiras - estudos midiáticos (14.09.2021)
Get full text
Journal Article