Zobrazeno 1 - 6 of 6 pro vyhledávání: '"Diogo Lucas Lima do Nascimento"'
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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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2
Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature
Autor: Vera Lúcia Gil-da-Silva-Lopes, Carla Rosenberg, Ana Andrade, Isabella Lopes Monlleó, Marshall Italo Barros Fontes, Miriam Coelho Molck, Ana Cristina Victorino Krepischi, Diogo Lucas Lima do Nascimento, Simone Appenzeller, Ana Paula Santos, Milena Simioni
Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
This article reports a patient with a de novo ∼ 9.32 Mb duplication at 16p13.3 and a ∼ 71 Kb deletion at 22q13.33. The patient was followed from 1 month old to 3 years and 8 months of age and presented typical features of the 16p13.3 duplication
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f471e5ecd5001905eb24cf1bacf2b5ef
https://doi.org/10.1002/ajmg.a.37494
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3
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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4
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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5
Implicações diagnósticas de defeitos associados em pacientes com fendas orofaciais típicas
Autor: Marshall Italo Barros Fontes, Diogo Lucas Lima do Nascimento, Isabella Lopes Monlleó, Ana Andrade, Vera Lúcia Gil-da-Silva-Lopes, Gisele de M. Brito, Amanda G.R. de Barros
Publikováno v: Jornal de Pediatria (Versão em Português), Vol 91, Iss 5, Pp 485-492 (2015)
Jornal de Pediatria, Vol 91, Iss 5, Pp 485-492 (2015)
Jornal de Pediatria, Volume: 91, Issue: 5, Pages: 485-492, Published: OCT 2015
Jornal de Pediatria v.91 n.5 2015
Jornal de Pediatria
Sociedade Brasileira de Pediatria (SBP)
instacron:SBPE
Objectives: To describe prevalence of associated defects and clinical–genetic characteristics of patients with typical orofacial clefts seen at a reference genetic service. Methods: Descriptive study conducted between September of 2009 and July of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::925d674e2b817422c2cbfb9f99dddb81
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6
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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