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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
Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes.
Published in:
Molecular Syndromology, 2017, v. 8, n. 4, p. 187, doi. 10.1159/000477084
By:
- Simioni, Milena;
- Artiguenave, François;
- Meyer, Vincent;
- Sgardioli, Ilária C.;
- Viguetti-Campos, Nilma L.;
- Monlleó, Isabella Lopes;
- Maciel-Guerra, Andréa T.;
- Steiner, Carlos E.;
- Gil-da-Silva-Lopes, Vera L.
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
Distúrbios da Diferenciação do Sexo: da diferença anatômica à diferença psíquica.
Published in:
Gerais: Revista Interinstitucional de Psicologia, 2021, v. 14, n. 3, p. 1, doi. 10.36298/gerais202114e16849
By:
- Soares Nunes, Viviane;
- Lopes Monlleó, Isabella;
- Vasconcelos Zanotti, Susane
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
Brazil's Craniofacial Project: Different approaches on orofacial clefts and 22q11.2 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 912, doi. 10.1002/ajmg.c.31852
By:
- Gil‐da‐Silva‐Lopes, Vera Lúcia;
- Tacla, Milena Atique;
- Sgardioli, Ilária Cristina;
- Vieira, Társis Paiva;
- Monlleó, Isabella Lopes
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
Overlapping Spectrum of Craniofacial Microsomia Phenotype in Cat-Eye Syndrome.
Published in:
Cleft Palate Craniofacial Journal, 2024, v. 61, n. 9, p. 1578, doi. 10.1177/10556656231174435
By:
- Spineli-Silva, Samira;
- Monlleó, Isabella L.;
- Félix, Têmis M.;
- Gil-da-Silva-Lopes, Vera L.;
- Vieira, Társis P.
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
Profile of patients with genitourinary anomalies treated in a clinical genetics service in the Brazilian unified health system.
Published in:
Revista Paulista de Pediatria, 2016, v. 34, n. 1, p. 91, doi. 10.1016/j.rppede.2015.06.024
By:
- Peixoto Gazzaneo, Ilanna Fragoso;
- Costa de Queiroz, Camila Maia;
- Vieira Goes, Larissa Clara;
- Correia Lessa, Victor José;
- de Omena Filho, Reinaldo Luna;
- Lima do Nascimento, Diogo Lucas;
- Petroli, Reginaldo José;
- Vasconcelos Zanotti, Susane;
- Lopes Monlleó, Isabella
Publication type:
Article
<italic>CranFlow</italic>: An Application for Record‐Taking and Management Through the Brazilian Database on Craniofacial Anomalies.
Published in:
Birth Defects Research, 2018, v. 110, n. 1, p. 72, doi. 10.1002/bdr2.1123
By:
- Volpe‐Aquino, Roberta M.;
- Monlleó, Isabella L.;
- Lustosa‐Mendes, Elaine;
- Mora, Amanda F.;
- Fett‐Conte, Agnes C.;
- Félix, Têmis M.;
- Xavier, Ana C.;
- Tonocchi, Rita;
- Ribeiro, Erlane M.;
- Pereira, Rui;
- Boy da Silva, Raquel T.;
- de Rezende, Adriana A.;
- Cavalcanti, Denise P.;
- Gil‐da‐Silva‐Lopes, Vera L.
Publication type:
Article
A Cytogenomic Approach in a Case of Syndromic XY Gonadal Dysgenesis.
Published in:
Sexual Development, 2016, v. 10, n. 1, p. 23, doi. 10.1159/000444870
By:
- Simioni, Milena;
- Lopes Monlleó, Isabella;
- Costa de Queiroz, Camila M.;
- Fragoso Peixoto Gazzaneo, Ilanna;
- Lima do Nascimento, Diogo L.;
- Luna de Omena Filho, Reinaldo;
- Santos da Cruz Piveta, Cristiane;
- Palandi de Mello, Maricilda;
- Gil-da-Silva-Lopes, Vera L.
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
Access to genetic evaluation of 1463 individuals with orofacial cleft in Brazil.
Published in:
Jornal de Pediatria, 2024, v. 100, n. 6, p. 604, doi. 10.1016/j.jped.2024.07.002
By:
- Wayhs Silva, Isabela Mayá;
- Atique Tacla, Milena;
- Marques Ribeiro, Erlane;
- Lustosa-Mendes, Elaine;
- Cristina Fett-Conte, Agnes;
- Maria Félix, Têmis;
- Carolina Xavier, Ana;
- Lopes Monlleó, Isabella;
- Lúcia Gil-da-Silva-Lopes, Vera
Publication type:
Article
Identification of genomic imbalances in oral clefts.
Published in:
Jornal de Pediatria, 2021, v. 97, n. 3, p. 321, doi. 10.1016/j.jped.2020.06.005
By:
- Lustosa-Mendes, Elaine;
- dos Santos, Ana P.;
- Vieira, Társis P.;
- Ribeiro, Erlane M.;
- Rezende, Adriana A.;
- Fett-Conte, Agnes C.;
- Cavalcanti, Denise P.;
- Félix, Têmis M.;
- Monlleó, Isabella L.;
- Lúcia Gil-da-Silva-Lopes, Vera
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
Prevalence of genital abnormalities in neonates.
Published in:
Jornal de Pediatria, 2012, v. 88, n. 6, p. 489, doi. 10.2223/jped.2237
By:
- Monlleó, Isabella L.;
- Zanotti, Susane V.;
- de Araújo, Bárbara Priscila B.;
- Cavalcante Júnior, Erisvaldo F.;
- Pereira, Paula D.;
- de Barros, Paulo M.;
- Araújo, Maria Deysiane P.;
- de Mendonça, Ana Thaysa V. S.;
- Santos, Catarina R. S.;
- dos Santos, Ylana R.;
- de Paula Michelatto, Débora;
- de Mello, Maricilda P.;
- Maciel-Guerra, Andrea T.;
- Guerra-Júnior, Gil
Publication type:
Article
Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex development.
Published in:
Human Mutation, 2018, v. 39, n. 1, p. 114, doi. 10.1002/humu.23353
By:
- Fabbri‐Scallet, Helena;
- de Mello, Maricilda Palandi;
- Guerra‐Júnior, Gil;
- Maciel‐Guerra, Andréa Trevas;
- de Andrade, Juliana Gabriel Ribeiro;
- de Queiroz, Camila Maia Costa;
- Monlleó, Isabella Lopes;
- Struve, Dagmar;
- Hiort, Olaf;
- Werner, Ralf
Publication type:
Article
22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity.
Published in:
Genes, 2024, v. 15, n. 4, p. 518, doi. 10.3390/genes15040518
By:
- de Wallau, Melissa Bittencourt;
- Xavier, Ana Carolina;
- Moreno, Carolina Araújo;
- Kim, Chong Ae;
- Mendes, Elaine Lustosa;
- Ribeiro, Erlane Marques;
- Oliveira, Amanda;
- Félix, Têmis Maria;
- Fett-Conte, Agnes Cristina;
- Bonadia, Luciana Cardoso;
- Correia-Costa, Gabriela Roldão;
- Monlleó, Isabella Lopes;
- Gil-da-Silva-Lopes, Vera Lúcia;
- Vieira, Társis Paiva
Publication type:
Article
An invincible memory: what surname analysis tells us about history, health and population medical genetics in the Brazilian Northeast.
Published in:
Journal of Biosocial Science, 2021, v. 53, n. 2, p. 183, doi. 10.1017/S0021932020000127
By:
- Cardoso-dos-Santos, Augusto César;
- Ramallo, Virginia;
- Zagonel-Oliveira, Marcelo;
- Veronez, Maurício Roberto;
- Navarro, Pablo;
- Monlleó, Isabella L.;
- Valiati, Victor Hugo;
- Dipierri, José Edgardo;
- Schuler-Faccini, Lavinia
Publication type:
Article

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