Výsledky vyhledávání - "Camila Maia Costa de Queiroz"

Akademický článek

Profile of patients with genitourinary anomalies treated in a clinical genetics service in the Brazilian unified health system

Autor: Ilanna Fragoso Peixoto Gazzaneo, Camila Maia Costa de Queiroz, Larissa Clara Vieira Goes, Victor José Correia Lessa, Reinaldo Luna de Omena Filho, Diogo Lucas Lima do Nascimento, Reginaldo José Petroli, Susane Vasconcelos Zanotti, Isabella Lopes Monlleó

Publikováno v: Revista Paulista de Pediatria, Vol 34, Iss 1, Pp 91-98 (2016)

Abstract Objective: To describe the profile of patients with genitourinary abnormalities treated at a tertiary hospital genetics service. Methods: Cross-sectional study of 1068 medical records of patients treated between April/2008 and August/2014. A

Externí odkaz: https://doaj.org/article/9c4d83c67ba44059aae7928c046a96a2

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Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex development

Autor: Juliana Gabriel Ribeiro de Andrade, Isabella Lopes Monlleó, Camila Maia Costa de Queiroz, Olaf Hiort, Gil Guerra-Júnior, Maricilda Palandi de Mello, Dagmar Struve, Ralf Werner, Helena Fabbri-Scallet, Andréa Trevas Maciel-Guerra

Publikováno v: Human mutation. 39(1)

Steroidogenic factor-1 (SF1), encoded by the NR5A1 gene, is a key regulator of steroidogenesis and reproductive development. NR5A1 mutations described in 46,XY patients with disorders of sex development (DSD) can be associated with a range of conditi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea1b62308cacf9be57d6c1879776d756
https://pubmed.ncbi.nlm.nih.gov/29027717

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Profile of patients with genitourinary anomalies treated in a clinical genetics service in the Brazilian unified health system

Autor: Isabella Lopes Monlleó, Larissa Clara Vieira Goes, Victor José Correia Lessa, Reginaldo José Petroli, Diogo Lucas Lima do Nascimento, Reinaldo Luna de Omena Filho, Camila Maia Costa de Queiroz, Ilanna Fragoso Peixoto Gazzaneo, Susane Vasconcelos Zanotti

Publikováno v: Revista Paulista de Pediatria, Volume: 34, Issue: 1, Pages: 91-98, Published: MAR 2016
Revista Paulista de Pediatria, Vol 34, Iss 1, Pp 91-98 (2016)
Revista Paulista de Pediatria
Revista Paulista de Pediatria v.34 n.1 2016
Revista Paulista de Pediatria (Ed. Português. Online)
Sociedade de Pediatria de São Paulo (SPSP)
instacron:SPSP

Objective: To describe the profile of patients with genitourinary abnormalities treated at a tertiary hospital genetics service. Methods: Cross-sectional study of 1068 medical records of patients treated between April/2008 and August/2014. A total of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::790e926cace1a27f9b1d009e0a8063ff
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822016000100091&lng=en&tlng=en

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A Cytogenomic Approach in a Case of Syndromic XY Gonadal Dysgenesis

Autor: Milena Simioni, Cristiane S C Piveta, Ilanna Fragoso Peixoto Gazzaneo, Maricilda Palandi de Mello, Isabella Lopes Monlleó, Reinaldo Luna de Omena Filho, Camila Maia Costa de Queiroz, Vera Lúcia Gil-da-Silva-Lopes, Diogo Lucas Lima do Nascimento

Publikováno v: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation. 10(1)

This is the first molecular characterization of a female XY patient with an Xp duplication due to an X;22 translocation. Array CGH detected a copy number gain of ∼36 Mb in the Xp22.33p21.1 region involving 150 genes. Clinical and molecular studies

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0c60c5ae3cf2014b9c51e5f895cb326
https://pubmed.ncbi.nlm.nih.gov/27007510

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Perfil de pacientes com anormalidades geniturinárias atendidos em serviço de genética clínica no sistema único de saúde

Autor: Reinaldo Luna de Omena Filho, Camila Maia Costa de Queiroz, Susane Vasconcelos Zanotti, Isabella Lopes Monlleó, Reginaldo José Petroli, Ilanna Fragoso Peixoto Gazzaneo, Victor José Correia Lessa, Diogo Lucas Lima do Nascimento, Larissa Clara Vieira Goes

Publikováno v: Revista Paulista de Pediatria. (1):91-98

ResumoObjetivoDescrever o perfil de pacientes com anormalidades geniturinárias atendidos em serviço de genética de hospital terciário.MétodosEstudo transversal de 1.068 prontuários de pacientes atendidos entre abril/2008 e agosto/2014. Foram se

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e55b6a7024f2510a2f0d25742b12ef4a

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