Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Greice A. Molfetta"'
Autor:
Diana Ruffato Resende Campanholi, Ana Vitoria Barban Margutti, Wilson A. Silva Jr, Daniel F. Garcia, Greice A. Molfetta, Adriana A. Marques, Ida Vanessa Döederlein Schwartz, V. Cornejo, Valerie Hamilton, Gabriela Castro, Fernanda Sperb‐Ludwig, Ester S. Borges, José S. Camelo Jr
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 5, Pp n/a-n/a (2021)
ABSTRACT Background Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by the deficient activity of the branched‐chain α‐keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a mitochondrial comple
Externí odkaz:
https://doaj.org/article/8cd15723dba14972b937aae7e4a418b1
Autor:
Isabela I. Barros, Vitor Leão, Jessica O. Santis, Reginaldo C. A. Rosa, Danielle B. Brotto, Camila B. Storti, Ádamo D. D. Siena, Greice A. Molfetta, Wilson A. Silva
Publikováno v:
Non-Coding RNA, Vol 7, Iss 1, p 22 (2021)
Non-syndromic intellectual disability (NS-ID or idiopathic) is a complex neurodevelopmental disorder that represents a global health issue. Although many efforts have been made to characterize it and distinguish it from syndromic intellectual disabil
Externí odkaz:
https://doaj.org/article/51e514d7e28a44cd8fc8f79cd95327ff
Autor:
Daniel Fantozzi Garcia, Ticiano G. Oliveira, Greice A. Molfetta, Luiz V. Garcia, Cristiane A. Ferreira, Adriana A. Marques, Wilson Araujo Silva Jr.
Publikováno v:
Genetics and Molecular Biology, Vol 34, Iss 1, Pp 40-44 (2011)
Butyrylcholinesterase (BChE) is a plasma enzyme that catalyzes the hydrolysis of choline esters, including the muscle-relaxant succinylcholine and mivacurium. Patients who present sustained neuromuscular blockade after using succinylcholine usually c
Externí odkaz:
https://doaj.org/article/d286a100e4c3488cb676cd20ec6d45da
Publikováno v:
Medicina, Vol 30, Iss 4 (1997)
O autismo infantil é caracterizado pelo comportamento típico que pode ser causado por uma doença orgânica ou por um distúrbio emocional. Através de um estudo genético-clínico e citogenético, tivemos como objetivo detectar a presença de doen
Externí odkaz:
https://doaj.org/article/5df397eecb6749c4acb960fb63892eef
Autor:
Araujo, Luiza Ferreira, Greice Andreotti Molfetta, Otavio Costa Vincenzi, Huber, Jair, Teixeira, Lorena Alves, Ferraz, Victor Evangelista, Silva, Wilson Araujo
Supplemental material, Supplementary_fig_1-Wilson for Molecular basis of familial adenomatous polyposis in the southeast of Brazil: identification of six novel mutations by Luiza Ferreira Araujo, Greice Andreotti Molfetta, Otavio Costa Vincenzi, Jair
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::634705b4c136f09d249603d8e81628df
Autor:
Araujo, Luiza Ferreira, Greice Andreotti Molfetta, Otavio Costa Vincenzi, Huber, Jair, Teixeira, Lorena Alves, Ferraz, Victor Evangelista, Silva, Wilson Araujo
Supplemental material, Supplementary_table_2 for Molecular basis of familial adenomatous polyposis in the southeast of Brazil: identification of six novel mutations by Luiza Ferreira Araujo, Greice Andreotti Molfetta, Otavio Costa Vincenzi, Jair Hube
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d17a58003dd064d3ebb275079898042
Publikováno v:
Europe PubMed Central
A total of 95 patients suspected with the clinical diagnosis of AS were evaluated and 37 cases (39%) were confirmed by cytogenetic or molecular studies as affected by Angelman syndrome. The clinical analysis was performed according to a specific clin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e1321af8bc334f6b0ac8b4bbe82ee3ab
http://europepmc.org/abstract/med/12725589
http://europepmc.org/abstract/med/12725589
Autor:
Simone da Costa e Silva Carvalho, Nathalia Moreno Cury, Danielle Barbosa Brotto, Luiza Ferreira de Araujo, Reginaldo Cruz Alves Rosa, Lorena Alves Texeira, Jessica Rodrigues Plaça, Adriana Aparecida Marques, Kamila Chagas Peronni, Patricia de Cássia Ruy, Greice Andreotti Molfetta, Julio Cesar Moriguti, Dirce Maria Carraro, Edenir Inêz Palmero, Patricia Ashton-Prolla, Victor Evangelista de Faria Ferraz, Wilson Araujo Silva Jr
Publikováno v:
BMC Medical Genomics, Vol 13, Iss 1, Pp 1-24 (2020)
Abstract Background The Hereditary Breast and Ovarian Cancer Syndrome (HBOC) occurs in families with a history of breast/ovarian cancer, presenting an autosomal dominant inheritance pattern. BRCA1 and BRCA2 are high penetrance genes associated with a
Externí odkaz:
https://doaj.org/article/7017c847d5db4a25b8ac154488e75410