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Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18.
Published in:
Neurological Sciences, 2024, v. 45, n. 6, p. 2705, doi. 10.1007/s10072-023-07271-0
By:
- de Souza, Guilherme Carvalho;
- Malta, Maria Carolina;
- Santos, Mirele Raíssa Silva;
- Fontes, Marshall Ítalo Barros;
- de Sousa Anjos, Juliana Lopes;
- Ribeiro, Diego Patrício;
- Kok, Fernando;
- Figueiredo, Thalita
Publication type:
Article
Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.
Published in:
European Journal of Pediatrics, 2013, v. 172, n. 7, p. 927, doi. 10.1007/s00431-013-1964-0
By:
- Monteiro, Fabíola;
- Vieira, Társis;
- Sgardioli, Ilária;
- Molck, Miriam;
- Damiano, Ana;
- Souza, Josiane;
- Monlleó, Isabella;
- Fontes, Marshall;
- Fett-Conte, Agnes;
- Félix, Têmis;
- Leal, Gabriela;
- M.Ribeiro, Erlane;
- Banzato, Claudio;
- Dantas, Clarissa;
- Lopes-Cendes, Iscia;
- Gil-da-Silva-Lopes, Vera
Publication type:
Article
17p13.3 Microdeletion: Insights on Genotype-Phenotype Correlation.
Published in:
Molecular Syndromology, 2017, v. 8, n. 1, p. 36, doi. 10.1159/000452753
By:
- Barros Fontes, Marshall I.;
- dos Santos, Ana P.;
- Rossi Torres, Fábio;
- Lopes-Cendes, Iscia;
- Cendes, Fernando;
- Appenzeller, Simone;
- de Araujo, Tânia Kawasaki;
- Monlleó, Isabella Lopes;
- Gil-da-Silva-Lopes, Vera L.
Publication type:
Article
Genomic imbalances in craniofacial microsomia.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 970, doi. 10.1002/ajmg.c.31857
By:
- Spineli‐Silva, Samira;
- Sgardioli, Ilária C.;
- Santos, Ana P.;
- Bergamini, Luna L.;
- Monlleó, Isabella L.;
- Fontes, Marshall I. B.;
- Félix, Têmis M.;
- Ribeiro, Erlane M.;
- Xavier, Ana C.;
- Lustosa‐Mendes, Elaine;
- Gil‐da‐Silva‐Lopes, Vera L.;
- Vieira, Tarsis P.
Publication type:
Article
Syndromic Oral Clefts: Challenges of Genetic Assessment in Brazil and Suggestions to Improve Health Policies.
Published in:
Public Health Genomics, 2019, v. 22, n. 1/2, p. 69, doi. 10.1159/000501973
By:
- Gil-da-Silva-Lopes, Vera Lúcia;
- Fontes, Marshall Italo Barros;
- dos Santos, Ana Paula;
- Appenzeller, Simone;
- Fett-Conte, Agnes Cristina;
- Francisquetti, Marina Cristine Cano;
- Monlleó, Isabella Lopes
Publication type:
Article
Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 766, doi. 10.1002/ajmg.a.37494
By:
- Fontes, Marshall I. B.;
- Santos, Ana P.;
- Molck, Miriam C.;
- Simioni, Milena;
- Nascimento, Diogo L. L.;
- Andrade, Ana K. M.;
- Rosenberg, Carla;
- Krepischi, Ana C. V.;
- Appenzeller, Simone;
- Monlleó, Isabella L.;
- Gil‐da‐Silva‐Lopes, Vera Lúcia
Publication type:
Article
Clinical Features in Patients With 22q11.2 Deletion Syndrome Ascertained by Palatal Abnormalities.
Published in:
Cleft Palate Craniofacial Journal, 2015, v. 52, n. 4, p. 411, doi. 10.1597/13-233
By:
- Vieira, Tarsis P.;
- Monteiro, Fabíola P.;
- Sgardioli, Ilária Maria C.;
- Souza, Josiane;
- Fett-Conte, Agnes C.;
- Monlleó, Isabella L.;
- Fontes, Marshall B.;
- Félix, Têmis M.;
- Leal, Gabriela F.;
- Marques Ribeiro, Erlane;
- Gil-da-Silva-Lopes, Vera L.
Publication type:
Article
Local Strategies to Address Health Needs of Individuals With Orofacial Clefts in Alagoas, Brazil.
Published in:
Cleft Palate Craniofacial Journal, 2013, v. 50, n. 4, p. 424, doi. 10.1597/11-069
By:
- Barros Fontes, Marshall Ítalo;
- Nunes Almeida, Lanusia;
- de Oliveira Reis Junior, Gilberto;
- Vieira Filho, José Ivam;
- dos Santos, Kathleen Moura;
- dos Anjos, Filipe Silveira;
- de Andrade, Ana Karolina Maia;
- Gaelzer Porciuncula, Carlos Guilherme;
- de Oliveira, Michelline Costa;
- Manoel Pereira, Rui;
- Paiva Vieira, Tarsis Antonio;
- Viguetti-Campos, Nilma Lúcia;
- Gil-da-Silva-Lopes, Vera Lúcia;
- Lopes Monlleó, Isabella
Publication type:
Article
Craniofacial microsomia: Reflections on diagnosis and severity assessment based on a series of cases.
Published in:
Congenital Anomalies, 2021, v. 61, n. 5, p. 148, doi. 10.1111/cga.12422
By:
- Bergamini, Luna Lira;
- Spineli‐Silva, Samira;
- Félix, Têmis Maria;
- Gil‐da‐Silva‐Lopes, Vera L.;
- Vieira, Tarsis P.;
- Ribeiro, Erlane Marques;
- Xavier, Ana Carolina;
- Lustosa‐Mendes, Elaine;
- Fontes, Marshall Ítalo Barros;
- Monlleó, Isabella L.
Publication type:
Article
Implementing the Brazilian Database on Orofacial Clefts.
Published in:
Plastic Surgery International, 2013, p. 1, doi. 10.1155/2013/641570
By:
- Lopes Monlleó, Isabella;
- Barros Fontes, Marshall Ítalo;
- Ribeiro, Erlane Marques;
- de Souza, Josiane;
- Leal, Gabriela Ferraz;
- Félix, Têmis Maria;
- Fett-Conte, Agnes Cristina;
- Bueno, Bruna Henrique;
- Magna, Luis Alberto;
- Mossey, Peter Anthony;
- Silva-Lopes, Vera Gil-da
Publication type:
Article
Preliminary Analysis of the Nonsynonymous Polymorphism rs17563 in BMP4 Gene in Brazilian Population Suggests Protection for Nonsyndromic Cleft Lip and Palate.
Published in:
Plastic Surgery International, 2012, p. 1, doi. 10.1155/2012/247104
By:
- Araújo, Tânia Kawasaki;
- Simioni, Milena;
- Félix, Têmis Maria;
- de Souza, Liliane Todeschini;
- Fontes, Marshall Ítalo Barros;
- Monlleó, Isabella Lopes;
- Souza, Josiane;
- Fett-Conte, Agnes Cristina;
- Secolin, Rodrigo;
- Lopes-Cendes, Iscia;
- Vianna Maurer-Morelli, Cláudia;
- Gil-da-Silva-Lopes, Vera Lúcia
Publication type:
Article
Implicações diagnosticas de defeitos associados em pacientes com fendas orofaciais típicas.
Published in:
Jornal de Pediatria, 2015, v. 91, n. 5, p. 485, doi. 10.1016/j.jped.2014.12.001
By:
- Monlleó, Isabella L.;
- de Barros, Amanda G. R.;
- Fontes, Marshall I. B.;
- de Andrade, Ana K. M.;
- Brito, Gisele de M.;
- do Nascimento, Diogo L. L.;
- Gil-da-Silva-Lopes, Vera L.
Publication type:
Article

Found: 12