Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Bruna Lixinski Diniz"'
Autor:
Bruna Baierle Guaraná, Marcela Rodrigues Nunes, Victória Feitosa Muniz, Bruna Lixinski Diniz, Maurício Rouvel Nunes, Ana Kalise Böttcher, Rafael Fabiano Machado Rosa, Rafaella Mergener, Paulo Ricardo Gazzola Zen
Publikováno v:
Revista Paulista de Pediatria, Vol 43 (2024)
ABSTRACT Objective: The objective of this study was to establish the genotype-phenotype correlation between karyotype results and the neurological and psychiatric alterations presented in patients with Turner syndrome (TS). Methods: A retrospective s
Externí odkaz:
https://doaj.org/article/b452197b3ae74074919a1bcbfefea5d9
Autor:
Desirée Deconte, Bruna Lixinski Diniz, Jéssica K. Hartmann, Mateus A. de Souza, Laira F. F. Zottis, Paulo Ricardo Gazzola Zen, Rafael F. M. Rosa, Marilu Fiegenbaum
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 14, p 7900 (2024)
KIAA0586 variants have been associated with a wide range of ciliopathies, mainly Joubert syndrome (JS, OMIM #616490) and short-rib thoracic dysplasia syndrome (SRTD, OMIM #616546). However, the hypothesis that this gene is involved with hydrolethalus
Externí odkaz:
https://doaj.org/article/30c6be50e15242da98d16066c3545f41
Autor:
Bianca Soares Carlotto, Desirée Deconte, Bruna Lixinski Diniz, Priscila Ramires da Silva, Paulo Ricardo Gazzola Zen, André Anjos da Silva
Publikováno v:
Revista Paulista de Pediatria, Vol 42 (2023)
ABSTRACT Objective: The aim of this study was to sum up and characterize all Williams-Beuren syndrome cases diagnosed by fluorescence in situ hybridization (FISH) since its implementation, as well as to discuss FISH as a cost-effective methodology in
Externí odkaz:
https://doaj.org/article/3ff88c1f10004958b448469b8a00a320
Autor:
Bruna Lixinski Diniz, Desirée Deconte, Kerolainy Alves Gadelha, Andressa Barreto Glaeser, Bruna Baierle Guaraná, Andreza Ávila de Moura, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen
Publikováno v:
Journal of Pediatric Genetics. 12:113-122
Congenital heart defects (CHDs) are one of the most prevalent clinical features described in individuals diagnosed with 22q11.2 deletion syndrome (22q11.2DS). Therefore, cardiac malformations may be the main finding to refer for syndrome investigatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::579a424709de8831f8db0854679b3b15
https://doi.org/10.1055/s-0043-1763258
https://doi.org/10.1055/s-0043-1763258
Autor:
Bruna Lixinski Diniz, Elizabeth De Carvalho Castro, Amanda Berlinck Da Silva, Fernanda Górski, Isabella Silva Moraes
Publikováno v:
Expressa Extensão. 26:574-581
Este relatório objetivou apresentar as dificuldades encontradas por um programa de Extensão de palhaçaria hospitalar durante o período de distanciamento social imposto pela Organização Mundial da Saúde (OMS) e demais autoridades, devido a inst
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8f7f55a408f4bf9d5edab737852af35e
https://doi.org/10.15210/ee.v26i1.19648
https://doi.org/10.15210/ee.v26i1.19648
Autor:
Desirée Deconte, Bruna Baierle Guaraná, Paulo Ricardo Gazzola Zen, Bruna Lixinski Diniz, Rafael Fabiano Machado Rosa, Andressa Barreto Glaeser
Publikováno v:
J Pediatr Genet
Ectopic calcification in soft tissue is associated with several disorders including pseudohypoparathyroidism (PHP), which is characterized by resistance or nonresponse to parathyroid hormone (PTH) function. Association between PHP and 22q11DS, also k
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::101843ea62ddfc69fd42365406d58beb
https://doi.org/10.1055/s-0040-1701640
https://doi.org/10.1055/s-0040-1701640
Autor:
Andressa Schneiders Santos, Andressa Barreto Glaeser, Victória Feitosa Muniz, Eduardo Morais Everling, Juliana Miola, Patrícia Yuri Noguchi, Bruna Lixinski Diniz, Bruna Baierle Guaraná, Bianca Soares Carlotto, Aline Ramos Garcia, Mariluce Riegel, Paulo Ricardo Gazzola Zen, Rafaella Mergener, Rafael Fabiano Machado Rosa
Publikováno v:
European journal of medical genetics. 64(11)
Cat eye syndrome (CES) is a rare chromosomal disorder that may be evident at birth. A small supernumerary chromosome is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11) in those affected. It's known that the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9dbcb71120375a3184ad669072227cb
https://pubmed.ncbi.nlm.nih.gov/34474176
https://pubmed.ncbi.nlm.nih.gov/34474176
Autor:
Rafael Fabiano Machado Rosa, Bruna Lixinski Diniz, Andressa Barreto Glaeser, Andressa Schneiders Santos, Desirée Deconte, Paulo Ricardo Gazzola Zen
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 182(11)
Oculo-auriculo-vertebral spectrum (hemifacial microsomia/OAVS, OMIM #164210) is a heterogenous and congenital condition caused by a morphogenesis defect of the first and second pharyngeal arches. Etiology includes unknown genetic, environmental facto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ba1cb5b235fc663046acee8b7ae3fea
https://pubmed.ncbi.nlm.nih.gov/32893956
https://pubmed.ncbi.nlm.nih.gov/32893956
Autor:
Desirée Deconte, Andressa Barreto Glaeser, Rafael Fabiano Machado Rosa, Andressa Schneiders Santos, Bruna Lixinski Diniz, Paulo Ricardo Gazzola Zen
Publikováno v:
J Pediatr Genet
Oculoauriculovertebral spectrum (OAVS) is a rare class of heterogenous congenital craniofacial malformation conditions of unknown etiology. Although classic OAVS has been described as hemifacial microsomia with facial asymmetry and microtia, there is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7c054366448682cabe3f40a0f20c197
https://europepmc.org/articles/PMC7375848/
https://europepmc.org/articles/PMC7375848/
Autor:
Cláudia Fernandes Lorea, Bruna Lixinski Diniz, Juliana Alves Josahkian, Paulo Ricardo Gazzola Zen, Rafael Fabiano Machado Rosa, Janaína Huber, Andressa Schneiders Santos, Bruna Baierle Guaraná, Andressa Barreto Glaeser
Publikováno v:
J Pediatr Genet
22q11.2 deletion syndrome (22q11.2DS) is considered one of the most frequently observed chromosomal abnormalities in association with congenital heart disease (CHD), which can also include some combination of other features. Thus, the aim of this wor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02c3a9bac5fee8c10f552ceafe6cae65
https://pubmed.ncbi.nlm.nih.gov/32733742
https://pubmed.ncbi.nlm.nih.gov/32733742