Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Júlio César Loguercio Leite"'
Autor:
Júlio César Loguercio Leite, Nina Rodrigues Stein, Liliam Pontes Troviscal, Roberto Giugliani
Publikováno v:
Clinical and Biomedical Research, Vol 21, Iss 3 (2022)
OBJETIVOS: Os autores apresentam os resultados da análise dos registros do Programa de Monitoramento de Defeitos Congênitos, vinculado ao Estudo Colaborativo Latinoamericano de Malformações Congênitas (ECLAMC), no período de janeiro de 1993 a d
Externí odkaz:
https://doaj.org/article/d598dd93927a45bc9a008aa5196995e0
Autor:
Mariluce Riegel, Nathália Barcellos, Rafaella Mergener, Karen Regina Silva de Souza, Júlio César Loguercio Leite, Rejane Gus, Lilia Maria Azevedo Moreira, Roberto Giugliani
Publikováno v:
Clinical and Biomedical Research, Vol 34, Iss 4 (2014)
Introduction: During the past few decades, the number of diseases identified to be caused by chromosomal microdeletions has increased quickly, bringing a new and crucial role for cytogenetics on the diagnosis of these conditions. The purpose of this
Externí odkaz:
https://doaj.org/article/9722cfa8ac53483281a24f66cac910e3
Publikováno v:
Revista de Saúde Pública, Vol 35, Iss 2, Pp 136-141 (2001)
OBJETIVO: Avaliar a relação entre o impacto ambiental decorrente da extração de carvão e sua repercussão na saúde reprodutiva de uma população, residente em pequenas cidades do Sul do Brasil, pela observação da freqüência de defeitos con
Externí odkaz:
https://doaj.org/article/d4a10ae3be11412d82023e5c98bd094b
Publikováno v:
Revista de Saúde Pública, Vol 35, Iss 2, Pp 136-141
OBJETIVO: Avaliar a relação entre o impacto ambiental decorrente da extração de carvão e sua repercussão na saúde reprodutiva de uma população, residente em pequenas cidades do Sul do Brasil, pela observação da freqüência de defeitos con
Externí odkaz:
https://doaj.org/article/2d8d98a9c4bf468e895577639593e80a
Autor:
Tatiana Prade Hemesath, Eduardo Corrêa Costa, Guilherme Guaragna-Filho, Júlio César Loguercio Leite, Marcelo Costamilan Rombaldi, Clarissa Gutierrez Carvalho
Publikováno v:
Asian Journal of Endoscopic Surgery. 15:356-358
Laparoscopy was introduced more than 100 years ago. However, in some fields its use still meets resistance. Technology such as laparoscopy may help to identify rare and complex disorders, even in very ordinary procedures, such as inguinal hernia repa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f098bf5edd6a67c54bf36b43b2418aac
https://doi.org/10.1111/ases.12996
https://doi.org/10.1111/ases.12996
Autor:
Ana Maria Bolognese, Milagros M. Duenas-Roque, Viviane Freitas de Castro, Maria Teresa Vieira Sanseverino, Viviana Cosentino, Rachel Sayuri Honjo, Larissa Souza Mario Bueno, Juan C. Llerena, Luiz Carlos Santana da Silva, Júlio César Loguercio Leite, Daniel Mattos, Márcia Pereira Alves de Souza, Denise P. Cavalcanti, Pablo Barbero, Pricila Bernardi, Flávia Martinez de Carvalho, Patrícia Santana Correia, Clarice Pagani Savastano, Iêda M. Orioli
Publikováno v:
Molecular Syndromology. 12:219-233
Holoprosencephaly (HPE) is the failure of the embryonic forebrain to develop into 2 hemispheres promoting midline cerebral and facial defects. The wide phenotypic variability and causal heterogeneity make genetic counseling difficult. Heterozygous va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2ba2f0476a84a943b99e0e9ec2a83f4e
https://doi.org/10.1159/000515044
https://doi.org/10.1159/000515044
Autor:
Tatiana Prade Hemesath, Mariluce Riegel, Matheus Vernet Machado Bressan Wilke, Clarissa Gutierrez Carvalho, Júlio César Loguercio Leite, Guilherme Guaragna-Filho, Eduardo Corrêa Costa, Iara Regina Siqueira Lucena
Publikováno v:
Urology. 158
This report describes an adolescent with Mixed Gonadal Dysgenesis and unexpected mosaicism [karyotype 46,X,mar(Y)/ 47,X, mar(Y),+mar(Y)].). Diagnosis with 1 month of age due to atypical genitalia. He presented a right streak gonad, which was removed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f84566861fe3037cbfdbc679a341769
https://pubmed.ncbi.nlm.nih.gov/34437894
https://pubmed.ncbi.nlm.nih.gov/34437894
Autor:
Juliana Moreira Silva, Rafael Loch Batista, Sorahia Domenice, Leila Cristina Pedroso de Paula, Mirian Y. Nishi, Júlio César Loguercio Leite, Tatiana Prade Hemesath, Daniela A. Moraes, Nathalia Lisboa Gomes, Elaine Mf Costa, Clarissa Gutierrez Carvalho, Jose Antonio Diniz Faria Junior, Berenice B Mendonca, Antonio M. Lerario, Thatiana Evilen Silva, Guilherme Guaragna
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bfbb8649e8e1d47e29b56449faa017ce
https://doi.org/10.1111/cge.13459/v2/response1
https://doi.org/10.1111/cge.13459/v2/response1
Autor:
Berenice B. Mendonca, Leila Cristina Pedroso de Paula, Júlio César Loguercio Leite, Eduardo Castro da Costa, Thatiana Evilen da Silva, Daniela A. Moraes, Guilherme Guaragna-Filho, Sorahia Domenice, Clarissa Gutierrez Carvalho, Jose Antonio Diniz Faria Junior, Nathalia Lisboa Gomes, Tatiana Prade Hemesath, Mirian Yumie Nishi, Elaine Maria Frade Costa, Juliana M Silva, Antonio M. Lerario, Rafael Loch Batista
Publikováno v:
Clinical genetics. 95(1)
Molecular diagnosis is rarely established in 46,XX testicular (T) disorder of sex development (DSD) individuals with atypical genitalia. The Wilms' tumour factor-1 (WT1) gene is involved in early gonadal development in both sexes. Classically, WT1 de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef6a8ba9d532011173a2e1696efb5fc5
https://pubmed.ncbi.nlm.nih.gov/30294972
https://pubmed.ncbi.nlm.nih.gov/30294972
Autor:
Júlio César Loguercio Leite, Lilia Maria de Azevedo Moreira, Marcial Francis Galera, Mariluce Riegel, José Eduardo Vargas, Rafaella Mergener, Thiago Corrêa
Publikováno v:
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
BioMed Research International
BioMed Research International, Vol 2018 (2018)
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
BioMed Research International
BioMed Research International, Vol 2018 (2018)
Deletions in the 4p16.3 region are associated with Wolf-Hirschhorn syndrome (WHS), a contiguous gene deletion syndrome involving variable size deletions. In this study, we perform a cytogenomic integrative analysis combining classical cytogenetic met
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91520c93243afd3c457cc4a4a8baf4a8