Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Maristela Ocampos"'
Autor:
Tiago Fernando Chaves, Maristela Ocampos, Ingrid Tremel Barbato, Louise Lapagesse de Camargo Pinto, Gisele Rozone de Luca, Jorge Humberto Barbato Filho, Priscila Bernardi, Yara Costa Netto Muniz, Angelica Francesca Maris
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-30 (2024)
Abstract Chromosomal microarray (CMA) is the reference in evaluation of copy number variations (CNVs) in individuals with neurodevelopmental disorders (NDDs), such as intellectual disability (ID) and/or autism spectrum disorder (ASD), which affect ar
Externí odkaz:
https://doaj.org/article/b88caa06d24c42eebd884b017781b6ad
Autor:
Luan Freitas Oliveira, Tiago Fernando Chaves, Nathacha Baretto, Gisele Rozone de Luca, Ingrid Tremel Barbato, Jorge Humberto Barbato Filho, Maristela Ocampos, Angelica Francesca Maris
Publikováno v:
BMC Pediatrics, Vol 20, Iss 1, Pp 1-12 (2020)
Abstract Background Intellectual Disability (ID) is characterized by significant limitations that affect intellectual functioning, adaptive behavior, and practical skills which directly interfere with interpersonal relationships and the environment.
Externí odkaz:
https://doaj.org/article/e6fad9f8af14449ea3b8178c354f8086
Autor:
Tiago Fernando Chaves, Luan Freitas Oliveira, Maristela Ocampos, Ingrid Tremel Barbato, Gisele Rozone de Luca, Jorge Humbeto Barbato Filho, Louise Lapagesse de Camargo Pinto, Pricila Bernardi, Angelica Francesca Maris
Publikováno v:
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-13 (2019)
Abstract Background Currently, chromosomal microarrays (CMA) are recommended as first-tier test in the investigation of developmental disorders to examine copy number variations. The modern platforms also include probes for single nucleotide polymorp
Externí odkaz:
https://doaj.org/article/f938e8a1253c47ea91e1b74323af03be
Autor:
Cinthia Ramos, Maristela Ocampos, Ingrid Tremel Barbato, Maria da Graça Bicalho, Renato Nisihara
Publikováno v:
Practical Laboratory Medicine, Vol 21, Iss , Pp e00162- (2020)
Objectives: Fragile X syndrome (FXS) is caused by expansion of the number of cytosine-guanine-guanine (CGG) repeats in the regulatory region of the gene fragile X mental retardation 1 (FMR1). The molecular diagnoses of FXS can be performed using two
Externí odkaz:
https://doaj.org/article/ff65ba12a2004383942a09fb5b13e39b
Autor:
Cláudia Maria Dornelles da Silva, Cintia Costi, Luciano Percival Krug, Ana Beatris Ramos, Tarciana Grandi, Vitório Luiz Gandolfi, Maria Elizabeth Menezes, Maristela Ocampos, Christian Niel, Maria Lucia Rosa Rossetti
Publikováno v:
Memorias do Instituto Oswaldo Cruz, Vol 102, Iss 7, Pp 867-870 (2007)
Hepatitis C virus (HCV) isolates have been divided into six genotypes (1 to 6). The duration of hepatitis C standard treatment is 48 weeks for patients infected with HCV genotype 1 vs 24 weeks for those infected with genotypes 2 and 3. A total of 154
Externí odkaz:
https://doaj.org/article/68efc8b9527944cc9378049cb5776108
Publikováno v:
DST, Vol 20, Iss 2 (2008)
Introdução: a infecção pelo papilomavírus humano (HPV) é a doença sexualmente transmissível mais frequente no mundo e apresenta um amplo espectro de manifestações, desde a infecção assintomática até o carcinoma invasivo. Estima-se que p
Externí odkaz:
https://doaj.org/article/4ec864a74e7c478e93599da913928667
Autor:
Cinthia Ramos, Viviane Margareth Scantamburlo Niehues, Ingrid Tremel Barbato, Maria da Graça Bicalho, Renato Nisihara, Maristela Ocampos
Publikováno v:
JBRA assisted reproduction. 26(2)
OBJECTIVE Our study aimed to identify mutations in the FMR1 gene in a group of Brazilian women diagnosed with primary ovarian insufficiency (POI). METHODS This cross-sectional study included patients aged under 40 years with confirmed POI from a conv
Autor:
Nathacha Baretto, Maristela Ocampos, Ingrid Tremel Barbato, Jorge H. Barbato Filho, Luan Freitas de Oliveira, Angelica Francesca Maris, Tiago Fernando Chaves, Gisele R. de Luca
Publikováno v:
BMC Pediatrics
BMC Pediatrics, Vol 20, Iss 1, Pp 1-12 (2020)
BMC Pediatrics, Vol 20, Iss 1, Pp 1-12 (2020)
Background Intellectual Disability (ID) is characterized by significant limitations that affect intellectual functioning, adaptive behavior, and practical skills which directly interfere with interpersonal relationships and the environment. In Wester
Autor:
Ingrid Tremel Barbato, Renato Nisihara, Maria da Graça Bicalho, Maristela Ocampos, Cinthia Ramos
Publikováno v:
Practical Laboratory Medicine, Vol 21, Iss, Pp e00162-(2020)
Practical Laboratory Medicine
Practical Laboratory Medicine
Objectives Fragile X syndrome (FXS) is caused by expansion of the number of cytosine-guanine-guanine (CGG) repeats in the regulatory region of the gene fragile X mental retardation 1 (FMR1). The molecular diagnoses of FXS can be performed using two t
Autor:
Tiago Chaves, Luiza Cid Fernandes, Maristela Ocampos, Ingrid Barbato, Gisele Luca, Jorge Barbato Filho, Louise Pinto, Yara Muniz, Angelica Maris
Publikováno v:
Cancer Genetics. :13