Výsledky vyhledávání - "Lucilene Arilho Ribeiro-Bicudo"

Caracterização Clínica e Genética de Pacientes com Suspeita da Síndrome de Williams-Beuren (SWB) no Brasil

Autor: Fernanda Ramos Barbosa de Oliveira, null Bruno Faulin Gamba, null Deise Helena de Souza, Priscila Medeiros, Roberta Machado Frota de Oliveira Curado, Nádia Aparecido Bérgamo, Danilo Moretti-Ferreira, Lucilene Arilho Ribeiro Bicudo

Publikováno v: Ensaios e Ciência C Biológicas Agrárias e da Saúde. 26:02-09

A síndrome de Williams-Beuren (WBS) resulta de uma deleção hemizigótica de aproximadamente 1,5 Mb a 1,8 Mb na região do cromossomo 7 (7q11.23) e leva a um raro perfil genético multissistêmico. Faces típicas, cardiopatias congênitas, distúrb

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9a4a28ffa20a2162d6d0d9eba945fd42
https://doi.org/10.17921/1415-6938.2022v26n1p02-09

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Akademický článek

Validation of a physical anthropology methodology using mandibles for gender estimation in a Brazilian population

Autor: Suzana Papile Maciel Carvalho, Liz Magalhaes Brito, Luiz Airton Saavedra de Paiva, Lucilene Arilho Ribeiro Bicudo, Edgard Michel Crosato, Rogerio Nogueira de Oliveira

Publikováno v: Journal of Applied Oral Science, Vol 21, Iss 4, Pp 358-362 (2013)

Validation studies of physical anthropology methods in the different population groups are extremely important, especially in cases in which the population variations may cause problems in the identification of a native individual by the application

Externí odkaz: https://doaj.org/article/4a7927020ceb43f6b6a987be92816603

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Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2

Autor: Siulan Vendramini-Pittoli, Maria Leine Guion-Almeida, Roseli Maria Zechi-Ceide, Nancy Mizue Kokitsu-Nakata, David R. FitzPatrick, Antonio Richieri-Costa, Rosana Maria Candido-Souza, Rodrigo Gonçalves Quiezi, Lucilene Arilho Ribeiro-Bicudo, Fernanda Sarquis Jehee

Publikováno v: J Pediatr Genet
Journal of Pediatric Genetics, 09(04), 258-262. Georg Thieme Verlag

The authors describe the clinical findings observed in a Brazilian girl that are suggestive of microphthalmia and linear skin defects (MLS) also known as MIDAS syndrome (OMIM #309801). She also presented with short stature, agenesis of corpus callosu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42151783808b767be7ddd221b37ea07a
https://doi.org/10.1055/s-0039-3402047

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Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses

Autor: Eduardo Perrone, Patricia C Mazzonetto, Angela Maria Vianna-Morgante, Gustavo Guida, Carla Rosenberg, Darine Villela, Liane de Rosso-Giuliani, Alexander A. L. Jorge, Peter L. Pearson, Silvia S. Costa, Fernando Kok, Maria Fernanda Milanezi, Lucilene Arilho Ribeiro-Bicudo, Michele Migliavacca, Francine Campagnari, Ana Cristina Victorino Krepischi

Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

Chromosomal microarray analyses (CMA) have greatly increased both the yield and diagnostic accuracy of postnatal analysis; it has been used as a first-tier cytogenetic test in patients with intellectual disability, autism spectrum disorder, and multi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57cfb5ff0a71d5c2b240cbb328669a95

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Congenital Heart Disease Revealing Familial 22q11 Deletion Syndrome

Autor: Camila Cristina de Oliveira Alves, Nádia Aparecida Bérgamo, Bruno Faulin Gamba, Lucilene Arilho Ribeiro-Bicudo, Marlene Viviane Pires Fernandes Santos, Stefany Lucas Lopes Empke

Publikováno v: International Journal of Cardiovascular Sciences.

Congenital heart defects are the most common birth defects and the leading cause of mortality in the first year of life. It is well known that the 22q11 deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans and that congenia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::67afe51b324b5884a520c1ceeffdab0d
https://doi.org/10.36660/ijcs.20180060

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Dominant-negative kinase domain mutations inFGFR1can explain the clinical severity of Hartsfield syndrome

Autor: Sophia B. Hufnagel, Antonio Richieri-Costa, Robert J. Hopkin, Erich Roessler, Maximilian Muenke, Alma Toromanović, Juliana Marino, Ping Hu, Sung-Kook Hong, Lucilene Arilho Ribeiro-Bicudo, Paul Kruszka

Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

Mutations in FGFR1 have recently been associated with Hartsfield syndrome, a clinically distinct syndromic form of holoprosencephaly (HPE) with ectrodactly, which frequently includes combinations of craniofacial, limb and brain abnormalities not typi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31bf0803de9342c2899e8e86ca1bf46a
https://doi.org/10.1093/hmg/ddw064

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Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability

Autor: Bruno F. Gamba, Lucilene Arilho Ribeiro-Bicudo, Siulan Vendramini-Pittoli, Nancy Mizue Kokitsu-Nakata, Ana C.V. Krepischi Santos, Carla Rosenberg, Roseli Maria Zechi-Ceide, Antonio Richieri-Costa

Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

We report on a Brazilian patient with a 1.7-Mb interstitial microdeletion in chromosome 1q21.1. The phenotypic characteristics include microcephaly, a peculiar facial gestalt, cleft lip/palate, and multiple skeletal anomalies represented by malformed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3eb70c73d28caaaba62d58d9d95c4189
https://doi.org/10.1159/000450971

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