Zobrazeno 1 - 10 of 30 pro vyhledávání: '"Eduardo, Perrone"'
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Akademický článek
The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023
Autor: Caio Robledo D’Angioli Costa Quaio, José Ricardo Magliocco Ceroni, Michele Araújo Pereira, Anne Caroline Barbosa Teixeira, Renata Yoshiko Yamada, Vivian 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, Joao Bosco de Oliveira Filho
Publikováno v: Human Genomics, Vol 17, Iss 1, Pp 1-15 (2023)
Abstract Background Next-generation sequencing has had a significant impact on genetic disease diagnosis, but the interpretation of the vast amount of genomic data it generates can be challenging. To address this, the American College of Medical Gene
Externí odkaz: https://doaj.org/article/0c95d03f938a4487814f7372787d1492
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3
Akademický článek
Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis
Autor: Marina de França, MD, Maria de Fátima de Faria Soares, MD, MSc, Ana Luiza Pilla Luce, MD, MSc, Eduardo Perrone, MD, MSc
Publikováno v: Radiology Case Reports, Vol 15, Iss 12, Pp 2554-2556 (2020)
Schmid metaphyseal chondrodysplasia is a rare genetic cause of skeletal dysplasia. Patients usually present skeletal abnormalities but no major visceral malformations or intellectual disability. We report a case of a 2-year-old male patient with shor
Externí odkaz: https://doaj.org/article/7aa778e07e77424c9ee8866e5f1a3a47
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5
Akademický článek
TRANSLATION, CULTURAL ADAPTATION, AND EVIDENCE OF INSTRUMENT VALIDITY FOR A MORPHOLOGICAL EXAMINATION PERFORMED IN CHILDREN WITH AUTISM SPECTRUM DISORDER
Autor: Thais Arbocese Zanolla, Eduardo Perrone, Rodrigo Ambrosio Fock, Daniela Bordini, Helena Paula Brentani, Ana Beatriz Alvarez Perez, Decio Brunoni
Publikováno v: Revista Paulista de Pediatria, Vol 38 (2020)
ABSTRACT Objective: For every 100 random children diagnosed with autism, at least 20 have morphological abnormalities, often associated with syndromes. Brazil does not have a standardized and validated instrument for morphological physical examinatio
Externí odkaz: https://doaj.org/article/9f877406a15c48a999bb9343d48a69d4
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6
Akademický článek
Determining the frequency of morphological characteristics in a sample of Brazilian children
Autor: Eduardo Perrone, Thais Arbocese Zanolla, Rodrigo Ambrosio Fock, Ana Beatriz Alvarez Perez, Decio Brunoni
Publikováno v: Jornal de Pediatria (Versão em Português), Vol 93, Iss 6, Pp 592-600 (2017)
Objective: To establish the frequency of 82 morphological features in a sample of Brazilian children (between 3 and 13 years old), to understand the influence of age, gender, and ethnicity. Methods: This was a cross‐sectional study that evaluated 2
Externí odkaz: https://doaj.org/article/52da84db935f470d83d9836c749dddd7
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