Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Bruna L. Freire"'
Autor:
Thais R. Villela, Bruna L. Freire, Nathalia T. P. Braga, Rodrigo R. Arantes, Mariana F. A. Funari, Alexander A. L. Jorge, Ivani N. Silva
Publikováno v:
Genetics and Molecular Biology
Externí odkaz:
https://doaj.org/article/3ec1bb7d47de4655ba8db1d820c9d1ed
Autor:
Nathalia Liberatoscioli Menezes Andrade, Mariana Ferreira de Assis Funari, Alexsandra Christianne Malaquias, Paulo Ferrez Collett-Solberg, Nathalia L R A Gomes, Renata Scalco, Naiara Castelo Branco Dantas, Raissa C Rezende, Angelica M F P Tiburcio, Micheline A R Souza, Bruna L Freire, Ana C V Krepischi, Carlos Alberto Longui, Antonio Marcondes Lerario, Ivo J P Arnhold, Alexander A L Jorge, Gabriela Andrade Vasques
Publikováno v:
Endocrine Connections. 11
Objective Most children with short stature remain without an etiologic diagnosis after extensive clinical and laboratory evaluation and are classified as idiopathic short stature (ISS). This study aimed to determine the diagnostic yield of a multigen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0463c7bf09ea216cb3eac1a296e878c2
https://doi.org/10.1530/ec-22-0214
https://doi.org/10.1530/ec-22-0214
Autor:
Joseph Magrino, Veridiana Munford, Davi Jardim Martins, Thais K Homma, Brendan Page, Christl Gaubitz, Bruna L Freire, Antonio M Lerario, Juliana Brandstetter Vilar, Antonio Amorin, Emília K E Leão, Fernando Kok, Carlos F M Menck, Alexander A L Jorge, Brian A Kelch
SUMMARYProliferating Cell Nuclear Antigen (PCNA) is a sliding clamp protein that coordinates DNA replication with various DNA maintenance events that are critical for human health. Recently, a hypomorphic homozygous serine to isoleucine (S228I) subst
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d76846f74e26876842a649b7e242911c
https://doi.org/10.1101/2022.10.20.22281069
https://doi.org/10.1101/2022.10.20.22281069
Autor:
Joseph Magrino, Veridiana Munford, Davi Jardim Martins, Thais K. Homma, Brendan Page, Christl Gaubitz, Bruna L. Freire, Antonio M. Lerario, Juliana Brandstetter Vilar, Antonio Amorin, Emília K.E. Leão, Fernando Kok, Carlos FM. Menck, Alexander AL. Jorge, Brian A. Kelch
Publikováno v:
Journal of Biological Chemistry. 299:104656
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b507dd658b81d73c6d8e1f0f62ca22f0
https://doi.org/10.1016/j.jbc.2023.104656
https://doi.org/10.1016/j.jbc.2023.104656
Autor:
Funari, Kim Ca, Antonio M. Lerario, Paulo Ferrez Collett-Solberg, Edoarda Vasco de Albuquerque Albuquerque, Andrew Dauber, Miura Sugayama Sm, Honjo Kawahira Rs, Bruna L Freire, Thais Kataoka Homma, Mirian Yumie Nishi, Jorge Aal, Alexsandra C. Malaquias, Arnhold Ijp, Gabriela A Vasques, Débora Romeo Bertola
Publikováno v:
The Journal of Pediatrics. 215:192-198
Objective To perform a prospective genetic investigation using whole exome sequencing of a group of patients with syndromic short stature born small for gestational age of unknown cause. Study design For whole exome sequencing analysis, we selected 4
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc4e67eea6104c9b74119e3a4633f0f7
https://doi.org/10.1016/j.jpeds.2019.08.024
https://doi.org/10.1016/j.jpeds.2019.08.024
Autor:
Gabriela A Vasques, Mirian Yumie Nishi, Berenice B. Mendonca, Bruna L Freire, Lucas Santos de Santana, Alexander A. L. Jorge, Antonio M. Lerario, Juliana Sobral de Barros, Mariana F A Funari, Thais Kataoka Homma
Publikováno v:
Clinical Genetics. 96:261-265
Short stature homeobox (SHOX) haploinsufficiency is a frequent cause of short stature. Despite advances in sequencing technologies, the identification of SHOX mutations continues to be performed using standard methods, including multiplex ligation-de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c61234085c72e4a193241c22fffb77b
https://doi.org/10.1111/cge.13587
https://doi.org/10.1111/cge.13587
Autor:
Barbara Leitao Braga, Antonio M. Lerario, Berenice B. Mendonca, Mirian Yumie Nishi, Gil Guerra-Júnior, Bruna L Freire, Nathalia Lisboa Gomes, Sorahia Domenice, Lais Cavalca Cardoso, Anna Flavia Figueredo Benedetti, Rafael Loch Batista, Mariana F A Funari, Jose Antonio Diniz Faria Junior, Alexander A. L. Jorge, Amanda de Moraes Narcizo, Elaine Maria Frade Costa
Publikováno v:
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation. 16(1)
Hypospadias is a common congenital disorder of male genital formation. Children born small for gestational age (SGA) present a high frequency of hypospadias of undetermined etiology. No previous study investigated the molecular etiology of hypospadia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f22ab606d9ddf1a440b5bcd18b90e7d
https://pubmed.ncbi.nlm.nih.gov/34518484
https://pubmed.ncbi.nlm.nih.gov/34518484
Autor:
Marcelo Bordalo Rodrigues, Bruna L Freire, Regina Matsunaga Martin, André Caroli Rocha, Hially R Cabral, Caio Santiago Moises, Thamiris Freitas Maia, Vanda Jorgetti, Andresa De Santi Rodrigues, Alexander A. L. Jorge, Bruno Ferraz de Souza
Publikováno v:
Journal of the Endocrine Society
BACKGROUND CSHS refers to the association of epidermal nevus syndrome (ENS), skeletal dysplasia, and hypophosphatemic osteomalacia (OM) mediated by FGF23 resulting from post zygotic mutations in RAS signaling pathway, with known by relationship with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7de1bdae5f1d57a5e89c7af6b9a8716d
http://europepmc.org/articles/PMC7207641
http://europepmc.org/articles/PMC7207641
Autor:
Antonio M. Lerario, Alexsandra C. Malaquias, Mariana F A Funari, AM Leal, Bruna L Freire, Thais Kataoka Homma, Elvira Deolinda Rodrigues Pereira Velloso, Alexander A. L. Jorge
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Universidade de São Paulo (USP)
instacron:USP
Background Fanconi Anemia (FA) is a rare and heterogeneous genetic syndrome. It is associated with short stature, bone marrow failure, high predisposition to cancer, microcephaly and congenital malformation. Many genes have been associated with FA. P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8be956f2aeab0bf84f2b80e150bd2f3
https://doi.org/10.1016/j.ejmg.2017.11.003
https://doi.org/10.1016/j.ejmg.2017.11.003
Multigene sequencing analysis of children born small for gestational age with isolated short stature
Autor:
Mariana F A Funari, Antonio M. Lerario, Alexander A. L. Jorge, Ivo J.P. Arnhold, Thais Kataoka Homma, Bruna L Freire, Alexsandra C. Malaquias, Gabriela A Vasques
Publikováno v:
Yearbook of Paediatric Endocrinology.
Context Patients born small for gestational age (SGA) who present with persistent short stature could have an underlying genetic etiology that will account for prenatal and postnatal growth impairment. We applied a unique massive parallel sequencing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::983a64563cf3270764a17d9593ee3959
https://doi.org/10.1530/ey.16.4.8
https://doi.org/10.1530/ey.16.4.8