Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Javier Miguelez"'
Publikováno v:
Anais Brasileiros de Dermatologia, Vol 82, Iss 4, Pp 353-358 (2007)
O diagnóstico pré-natal está indicado para algumas genodermatoses graves, como a epidermólise bolhosa distrófica recessiva e a epidermólise bolhosa juncional. A biópsia de pele fetal foi introduzida em 1980, mas não pode ser realizada antes d
Externí odkaz:
https://doaj.org/article/793239785a064c548273bfb8c5f83b59
Autor:
Victor Bunduki, Maria de Lourdes Brizot, Javier Miguelez, Cleisson Fábio Andrioli Peralta, Alberto Jorge Monteiro de La Veja, Marcelo Zugaib
Publikováno v:
Revista Brasileira de Ginecologia e Obstetrícia, Vol 27, Iss 6, Pp 310-315 (2005)
OBJETIVO: avaliar a acurácia da ultra-sonografia para predição do sexo fetal entre a 11ª e a 13ª semana e 6 dias por meio da medida dos ângulos anterior e posterior do apêndice genital. MÉTODOS: os ângulos anterior e posterior do apêndice g
Externí odkaz:
https://doaj.org/article/31a0493d94c540f29cfd9ac85304161a
Autor:
Victor Bunduki, Rodrigo Ruano, Cleisson Fábio Andrioli Peralta, Javier Miguelez, Mário Burlachinni de Carvalho, Carlos Tadashi Yoshizaki, Marcelo Zugaib
Publikováno v:
Revista Brasileira de Ginecologia e Obstetrícia, Vol 24, Iss 9, Pp 601-608 (2002)
Objetivo: avaliar o valor de parâmetros ultra-sonográficos para o diagnóstico da síndrome de Down fetal (T21), com a finalidade de permitir sua aplicação na prática clínica rotineira. Métodos: estudo do tipo coorte transversal prospectivo, u
Externí odkaz:
https://doaj.org/article/4949d3a579994423b53f57e642b2cf93
Autor:
Javier Miguelez
Publikováno v:
Biblioteca Digital de Teses e Dissertações da USPUniversidade de São PauloUSP.
A pesquisa de marcadores ultrassonográficos no segundo trimestre da gestação, após rastreamento combinado no primeiro, parece elevar substancialmente as taxas de detecção de Síndrome de Down, mas está amparada na assunção não comprovada de
Autor:
Rodrigo Fernandes Ramalho, Michele Groenner Penna, Wagner A.R. Baratela, Shirley Dezan Matalhana, Cintia Reys Furuzawa, Ana Lígia Buzolin, Gil M. Novo-Filho, Maria de Lourdes Lopes Ferrari Chauffaille, Aurelio Pimenta Dutra, Gustavo Marquezani Spolador, Vinícius Ceola Pereira, Aline Dos Santos Borgo Perazzio, Chong Ae Kim, Otavio Jose Eulalio Pereira, Ana Lúcia Catelani, Alexandre Ricardo dos Santos Fornari, Monize Nakamoto Provisor Santos, Javier Miguelez, Vanessa Galdeno Freitas, Vanessa Dionisio Cantagalli, Ana Carolina Gomes Trindade, Patricia Rossi Sacramento-Bobotis, Daniele Paixão, Caroline Olivati, Gustavo Arantes Rosa Maciel, Caio Robledo D'Angioli Costa Quaio, Mário Henrique Burlacchini de Carvalho, Elisa Napolitano Ferreira, Fernanda Verzini, Rafael Alves da Silva, Vanessa Yurie Nozaki de Arruda, David Santos Marco Antonio, Alexandre Wagner Silva de Souza, Naiade Romano, Viviane Z. Rocha, Caroline Monaco Moreira, Rafaela Rogerio Floriano de Sousa, Miguel Mitne-Neto, Matheus Carvalho Bürger, Sandro Félix Perazzio, Luis Eduardo Coelho Andrade, Maria Carolina Pintao, Andre Yuji Oku
Publikováno v:
American journal of medical genetics. Part C, Seminars in medical geneticsREFERENCES. 184(4)
Rare diseases comprise a diverse group of conditions, most of which involve genetic causes. We describe the variable spectrum of findings and clinical impacts of exome sequencing (ES) in a cohort of 500 patients with rare diseases. In total, 164 prim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac1f1b47f0c825ea9c12a5db9076f3b2
https://pubmed.ncbi.nlm.nih.gov/33258288
https://pubmed.ncbi.nlm.nih.gov/33258288
Autor:
Else Marie Vestergaard, Lieve Page-Christiaens, Karin Huijsdens-van Amsterdam, Mário Henrique Burlacchini de Carvalho, Javier Miguelez, Ida Vogel, Katie Ellis, M. Bonifacio, Erik A. Sistermans, Mark D. Pertile, Nicola Flowers
Publikováno v:
European journal of human genetics, 26(10), 1490-1496. Nature Publishing Group
Huijsdens-van Amsterdam, K, Page-Christiaens, L, Flowers, N, Bonifacio, M D, Ellis, K M B, Vogel, I, Vestergaard, E M, Miguelez, J, de Carvalho, M H B, Sistermans, E A & Pertile, M D 2018, ' Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome ', European Journal of Human Genetics, vol. 26, no. 10, pp. 1490-1496 . https://doi.org/10.1038/s41431-018-0188-1
European Journal of Human Genetics, 26(10), 1490-1496. Nature Publishing Group
Huijsdens-van Amsterdam, K, Page-Christiaens, L, Flowers, N, Bonifacio, M D, Ellis, K M B, Vogel, I, Vestergaard, E M, Miguelez, J, de Carvalho, M H B, Sistermans, E A & Pertile, M D 2018, ' Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome ', European Journal of Human Genetics, vol. 26, no. 10, pp. 1490-1496 . https://doi.org/10.1038/s41431-018-0188-1
European Journal of Human Genetics, 26(10), 1490-1496. Nature Publishing Group
False-negative cell-free DNA (cfDNA) screening results involving Down syndrome are rare, but have high clinical impact on patients and their healthcare providers. Understanding the biology behind these results may allow for improved diagnostic follow
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80a3ea6d85f37ab4c1434f9332e95935
https://pure.amc.nl/en/publications/isochromosome-21q-is-overrepresented-among-falsenegative-cellfree-dna-prenatal-screening-results-involving-down-syndrome(f51fa7f6-23ad-4738-980d-3d4bee93360a).html
https://pure.amc.nl/en/publications/isochromosome-21q-is-overrepresented-among-falsenegative-cellfree-dna-prenatal-screening-results-involving-down-syndrome(f51fa7f6-23ad-4738-980d-3d4bee93360a).html
Publikováno v:
Latin American Journal of Central Banking, Vol 4, Iss 4, Pp 100098- (2023)
The concept of centrality is widely used to monitor systems with a network structure because it allows identifying their most influential participants. This monitoring task can be difficult if the number of system participants is considerably large o
Externí odkaz:
https://doaj.org/article/13dd6f332f414ded848f902a73fed80b
Autor:
C. Ana Lucia, W.A. Baratela, Javier Miguelez, N.M. Miguel, A.R. Fornari, M. Chauffaille, C. Moreira, L. Pereira, M.H. Carvalho
Publikováno v:
Ultrasound in Obstetrics & Gynecology. 54:5-5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1aa573d238a08c1be763c1e13f8ed7c7
https://doi.org/10.1002/uog.20434
https://doi.org/10.1002/uog.20434
Autor:
M. De Lourdes Brizot, Marcelo Zugaib, Javier Miguelez, M. H. B. de Carvalho, Adolfo Wenjaw Liao
Publikováno v:
Ultrasound in Obstetrics & Gynecology. 39:274-278
Objective Genetic sonography following first-trimester combined screening appears to increase substantially detection rates for Down syndrome but it relies on the unproved assumption of independence between these tests. In this study we aimed to inve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d485767d3d2c8db8c18f7d9a196099a0
https://doi.org/10.1002/uog.9024
https://doi.org/10.1002/uog.9024
Publikováno v:
Journal of Ultrasound in Medicine. 29:1741-1747
Objective. The purpose of this study was to estimate the Down syndrome detection and false-positive rates for second-trimester sonographic prenasal thickness (PT) measurement alone and in combination with other markers. Methods. Multivariate log Gaus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25cbe12aeef656085a174ce97b21d88a
https://doi.org/10.7863/jum.2010.29.12.1741
https://doi.org/10.7863/jum.2010.29.12.1741