Eduardo Perrone

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 10

Top Topics

Autism Spectrum Disorder

Dna Methylation

Top Venues

American journal of medical genetics. Part A

Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo

Genetics and molecular biology

This page only lists publications with an associated author ORCID identifier.

Publications

Eduardo Perrone, Antonio Victor Campos Coelho, Luiza do Amaral Virmond, Jessica Grasiela de Araujo Espolaor, João Bosco de Oliveira Filho, Amanda Thamires Batista do Nascimento, Marina Cadena da Matta, Joanna Goes Castro Meira, Laércio Moreira Cardoso-Júnior, Ana Camila Mendes Andrade, Ricardo Zantieff Topolski Chaves, Angelina Xavier Acosta
ELMO2 biallelic pathogenic variants in a patient with gingival hypertrophy and cherubism phenotype: Case report and molecular review. American journal of medical genetics. Part A (2024)
Caio Robledo D' Angioli Costa Quaio, José Ricardo Magliocco Ceroni, Michele Araújo Pereira, Anne Caroline Barbosa Teixeira, Renata Yoshiko Yamada, Vívian Pedigone Cintra, Eduardo Perrone, Marina De França, Kelin Chen, Renata Moldenhauer Minillo, Cheysa Arielly Biondo, Mariana Rezende Bandeira de Mello, Lais Rodrigues Moura, Amanda Thamires Batista do Nascimento, Karla de Oliveira Pelegrino, Larissa Barbosa de Lima, Luiza do Amaral Virmond, Carolina Araujo Moreno, Joana Rosa Marques Prota, Jessica Grasiela de Araujo Espolaor, Thiago Yoshinaga Tonholo Silva, Gabriel Hideki Izuka Moraes, Gustavo Santos de Oliveira, Livia Maria Silva Moura, Marcel Pinheiro Caraciolo, Rafael Lucas Muniz Guedes, Michel Chieregato Gretschischkin, Pedro Lui Nigro Chazanas, Carolina Naomi Izo Nakamura, Rodrigo de Souza Reis, Carmen Melo Toledo, Fernanda Stussi Duarte Lage, Giovanna Bloise de Almeida, José Bandeira do Nascimento Júnior, Milena Andreuzo Cardoso, Victor de Paula Azevedo, Tatiana Ferreira de Almeida, Murilo Castro Cervato, João Bosco de Oliveira Filho
The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023. Human genomics 17 (1) (2023)
Darine Villela, Patricia C Mazzonetto, Michele P Migliavacca, Eduardo Perrone, Gustavo Guida, Maria Fernanda G Milanezi, Alexander Augusto de Lima Jorge, Lucilene A Ribeiro-Bicudo, Fernando Kok, Francine Campagnari, Liane de Rosso-Giuliani, Silvia Souza da Costa, Angela M Vianna-Morgante, Peter L Pearson, Ana C V Krepischi, Carla Rosenberg
Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses. American journal of medical genetics. Part A 185 (8) (2021)
Eduardo Perrone, Vânia D'Almeida, Nara Lygia de Macena Sobreira, Claudia Berlim de Mello, Allan Chiaratti de Oliveira, Stênio Burlin, Maria de Fátima de Faria Soares, Mirlene Cecília Soares Pinho Cernach, Ana Beatriz Alvarez Perez
Gomez-López-Hernández syndrome: A case report with clinical and molecular evaluation and literature review. American journal of medical genetics. Part A 182 (7) (2020)
Thais Arbocese Zanolla, Eduardo Perrone, Rodrigo Ambrosio Fock, Daniela Bordini, Helena Paula Brentani, Ana Beatriz Alvarez Perez, Decio Brunoni
TRANSLATION, CULTURAL ADAPTATION, AND EVIDENCE OF INSTRUMENT VALIDITY FOR A MORPHOLOGICAL EXAMINATION PERFORMED IN CHILDREN WITH AUTISM SPECTRUM DISORDER. Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo 38 (2020)
Thiago Rodrigues Cavole, Eduardo Perrone, Felipe S C Lucena de Castro, Ana B Alvarez Perez, Angela Flávia L Waitzberg, Mirlene C S P Cernach
Clinical, molecular, and pathological findings in a Neu-Laxova syndrome stillborn: A Brazilian case report. American journal of medical genetics. Part A 182 (6) (2020)
Eduardo Perrone, Ana Beatriz Alvarez Perez, Vânia D'Almeida, Claudia Berlim de Mello, Marcela Amaral Avelino Jacobina, Rafael Maffei Loureiro, Stênio Burlin, Michele Migliavacca, Luiza do Amaral Virmond, Carla Graziadio, José Luiz Pedroso, Elaine Lustosa Mendes, Israel Gomy, Nara Lygia de Macena Sobreira
Clinical and molecular evaluation of 13 Brazilian patients with Gomez-López-Hernández syndrome. American journal of medical genetics. Part A 185 (4) (2020)
Thiago Rodrigues Cavole, Eduardo Perrone, Maria de Fatima de Faria Soares, Magnus Régios Dias da Silva, Sergio Setsuo Maeda, Marise Lazaretti-Castro, Ana Beatriz Alvarez Perez
Overlapping phenotype comprising Kenny-Caffey type 2 and Sanjad-Sakati syndromes: The first case report. American journal of medical genetics. Part A 182 (12) (2020)
Eduardo Perrone, Thiago R Cavole, Manuella G Oliveira, Luiza do A Virmond, Marina de França B Silva, Maria de Fatima F Soares, Simone Brasil de O Iglesias, Ariane Falconi, Juliana S Silva, Viviane Nakano, Maria Fernanda Milanezi, Carmen Silvia C Mendes, Marco Antonio Curiati, Cecília Micheletti
Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review. Genetics and molecular biology 43 (2) (2020)
Eduardo Perrone, Stênio Burlin, Vânia D'Almeida, Ana Beatriz Alvarez Perez, Nara Lygia de Macena Sobreira, Victor Rebelo Procaci, Marcela Amaral Avelino Jacobina, Orlando Grazianni Povoas Barsottini, José Luiz Pedroso
Teaching NeuroImages: Trigeminal Ganglia Hypoplasia as Imaging Clue for the Diagnosis of Gómez-López-Hernández Syndrome. Neurology 96 (11) (2020)