المؤلفون: Danielle de Paula Moreira, Angela May Suzuki, André Luiz Teles e Silva, Elisa Varella-Branco, Maria Cecília Zorél Meneghetti, Gerson Shigeru Kobayashi, Mariana Fogo, Merari de Fátima Ramires Ferrari, Rafaela Regina Cardoso, Naila Cristina Vilaça Lourenço, Karina Griesi-Oliveira, Elaine Cristina Zachi, Débora Romeo Bertola, Karina de Souza Weinmann, Marcelo Andrade de Lima, Helena Bonciani Nader, Andrea Laurato Sertié, Maria Rita Passos-Bueno

المصدر: Frontiers in Cellular Neuroscience, Vol 15 (2022)

مصطلحات موضوعية: STAM, early secretory pathway, vesicle trafficking, autophagy, GM130, clathrin, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fncel.2021.803302/full; https://doaj.org/toc/1662-5102

URL الوصول: https://doaj.org/article/b6157e43dbaf43568d0bef65c5a89565

المؤلفون: Vanessa Luiza Romanelli Tavares, Frederico Monfardini, Naila Cristina Vilaça Lourenço, Katia Maria da Rocha, Karina Weinmann, Rita Pavanello, Mayana Zatz

المصدر: International Journal of Neonatal Screening, Vol 7, Iss 3, p 53 (2021)

مصطلحات موضوعية: spinal muscular atrophy, screening test, neonatal screening, SMN1, real-time PCR, genetic diagnosis, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2409-515X/7/3/53; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/6f9687a633b84299ba7d7d83213ee335

المؤلفون: Gerson Shigeru Kobayashi, Luciano Abreu Brito, Danielle de Paula Moreira, Angela May Suzuki, Gabriella Shih Ping Hsia, Lylyan Fragoso Pimentel, Ana Paula Barreto de Paiva, Carolina Regoli Dias, Naila Cristina Vilaça Lourenço, Beatriz Araujo Oliveira, Erika Regina Manuli, Marcelo Andreetta Corral, Natale Cavaçana, Miguel Mitne-Neto, Maria Mirtes Sales, Luiz Phellipe Dell’ Aquila, Alvaro Razuk Filho, Eduardo Fagundes Parrillo, Maria Cássia Mendes-Corrêa, Ester Cerdeira Sabino, Silvia Figueiredo Costa, Fabio Eudes Leal, Germán Gustavo Sgro, Chuck Shaker Farah, Mayana Zatz, Maria Rita Passos-Bueno

المصدر: Diagnostics, Vol 11, Iss 8, p 1400 (2021)

مصطلحات موضوعية: LAMP (loop-mediated isothermal amplification) assay, 2019 novel coronavirus, saliva, viral diagnostics, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2075-4418/11/8/1400; https://doaj.org/toc/2075-4418

URL الوصول: https://doaj.org/article/3789d85647b349c2bcc5995fe8e2699c

المؤلفون: Silvia S. Costa, Naila Cristina Vilaça Lourenço, Eloisa de Sá Moreira, Isabela Maya Wahys Silva, Ana Cristina Victorino Krepischi, Elaine Cristina Zachi, Angela Maria Vianna-Morgante, Eduarda Morgana da Silva Montenegro, Mehdi Zarrei, Claudia Ismania Samogy Costa, Elisa Varella Branco, Maria Rita Passos-Bueno, Stephen W. Scherer, Jaqueline Yu Ting Wang, Marilia O. Scliar, Carla Rosenberg

المصدر: Clinical Genetics. 101:134-141

مصطلحات موضوعية: Adult, Male, Adolescent, DNA Copy Number Variations, Autism Spectrum Disorder, Genetic counseling, Genomics, Biology, Young Adult, Neurodevelopmental disorder, mental disorders, Cell Adhesion, Genetics, medicine, Humans, Microarray databases, Genetic Predisposition to Disease, Copy-number variation, Child, Alleles, Genetic Association Studies, Genetics (clinical), Comparative Genomic Hybridization, Chromosome Mapping, Infant, medicine.disease, Phenotype, Autism spectrum disorder, Child, Preschool, Cohort, Autism, Female, Brazil

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25d87ce292ebeec4d95e37f3851e9f64
https://doi.org/10.1111/cge.14072

المؤلفون: Elaine Cristina Zachi, Tatiana F. Almeida, Guilherme L. Yamamoto, Gabriele Campos, Mehdi Zarrei, Ada J.S. Chan, Eduarda Morgana da Silva Montenegro, Marilia O. Scliar, Isabela Maya Wahys Silva, Maria Rita Passos-Bueno, Claudia Ismania Samogy Costa, Stephen W. Scherer, Naila Cristina Vilaça Lourenço

المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

مصطلحات موضوعية: Adult, Male, Proband, Candidate gene, Adolescent, DNA Copy Number Variations, Autism Spectrum Disorder, Population, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, mental disorders, CACNA1H, medicine, Humans, Exome, Genetic Predisposition to Disease, 0501 psychology and cognitive sciences, Copy-number variation, Child, education, Genetics (clinical), Genetics, education.field_of_study, biology, General Neuroscience, MUTAÇÃO GENÉTICA, 05 social sciences, Exons, medicine.disease, Autism spectrum disorder, Child, Preschool, biology.protein, Autism, Female, Neurology (clinical), Chromosome Deletion, Brazil, 030217 neurology & neurosurgery, 050104 developmental & child psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d672c9934d3b4ab754313c0cbcdac61e
https://doi.org/10.1002/aur.2238

المؤلفون: Claudia Ismania Samogy Costa, Elisa Varella Branco, Ana Cristina Victorino Krepischi, Stephen W. Scherer, Silvia S. Costa, Maria Rita Passos-Bueno, Mehdi Zarrei, Jaqueline Yu Ting Wang, Angela Maria Vianna-Morgante, Marilia O. Scliar, Isabela Maya Wahys Silva, Carla Rosenberg, Naila Cristina Vilaça Lourenço, Elaine Cristina Zachi, Eduarda Morgana da Silva Montenegro, Eloisa de Sá Moreira

مصطلحات موضوعية: Genetics, Cohort, medicine, Autism, Copy-number variation, Biology, medicine.disease, Cell adhesion, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b6ec641422d310e6cefef5bcbffe037d
https://doi.org/10.1111/cge.14072/v2/response1

المؤلفون: Mayana Zatz, Rita de Cássia M. Pavanello, Vanessa Luiza Romanelli Tavares, Karina Weinmann, Frederico Monfardini, Naila Cristina Vilaça Lourenço, Kátia Maria da Rocha

المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
International Journal of Neonatal Screening
Volume 7
Issue 3
International Journal of Neonatal Screening, Vol 7, Iss 53, p 53 (2021)

مصطلحات موضوعية: SMN1, medicine.medical_specialty, Computer science, Concordance, Context (language use), Pediatrics, RJ1-570, Article, genetic diagnosis, Immunology and Microbiology (miscellaneous), medicine, neonatal screening, Medical physics, Multiplex, Dried blood, health care economics and organizations, screening test, spinal muscular atrophy, Protocol (science), Newborn screening, Obstetrics and Gynecology, Spinal muscular atrophy, SMA, medicine.disease, GENÉTICA MÉDICA, Pediatrics, Perinatology and Child Health, real-time PCR

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5933054f265ed1ed85316aa12a90bf5a

المؤلفون: Eliete Pardono, Naila Cristina Vilaça Lourenço, Paulo Alberto Otto, Leandro Ucela Alves, Regina Célia Mingroni-Netto, Humberto Vicente Cezar Marcolino, Uirá Souto Melo, Magnolia Astrid Pretell Bocangel

المصدر: European Journal of Medical Genetics. 61:348-354

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, DNA Copy Number Variations, SOX10, Germline mosaicism, Biology, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Genetics, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Waardenburg Syndrome, Multiplex ligation-dependent probe amplification, Indel, Genetics (clinical), Sequence Deletion, Sanger sequencing, Mosaicism, Waardenburg syndrome, Exons, Sequence Analysis, DNA, General Medicine, medicine.disease, 030104 developmental biology, Mutation, symbols, Female, Brazil, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cc8902ad362254f90792c098d042abf
https://doi.org/10.1016/j.ejmg.2018.01.012

المؤلفون: Natale Cavaçana, Naila Cristina Vilaça Lourenço, Marcelo Andreetta Corral, Maria Cassia Mendes-Correa, Luciano Abreu Brito, Gabriella Shih Ping Hsia, Erika R. Manuli, Alvaro Razuk Filho, Chuck S. Farah, Ana Paula Barreto de Paiva, Maria Mirtes Sales, Beatriz Araujo Oliveira, Luiz Phellipe Dell' Aquila, Miguel Mitne-Neto, Angela May Suzuki, Maria Rita Passos-Bueno, Mayana Zatz, Lylyan Fragoso Pimentel, Germán G. Sgro, Gerson Shigeru Kobayashi, Carolina Regoli Dias, Eduardo Fagundes Parrillo, Danielle de Paula Moreira, Ester Cerdeira Sabino, Fabio E. Leal, Silvia Figueiredo Costa

المصدر: Diagnostics, Vol 11, Iss 1400, p 1400 (2021)
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Diagnostics
Volume 11
Issue 8

مصطلحات موضوعية: 0301 basic medicine, Medicine (General), Saliva, Coronavirus disease 2019 (COVID-19), viral diagnostics, Clinical Biochemistry, NOP, Loop-mediated isothermal amplification, Article, law.invention, 03 medical and health sciences, R5-920, 0302 clinical medicine, law, Medicine, 030212 general & internal medicine, 2019 novel coronavirus, saliva, LAMP (loop-mediated isothermal amplification) assay, business.industry, TRANSMISSÃO DE DOENÇAS, 030104 developmental biology, Transmission (mechanics), Immunology, Viral spread, business, Viral load, Kappa

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a20dccbade41992e9ac244350ccb572
https://doi.org/10.3390/diagnostics11081400

المؤلفون: Ricardo Henrique Almeida Barbosa, Helen Conceição Ferraz, Ana Beatriz Alvarez Perez, Carla Rosenberg, Claudia Ismania Samogy-Costa, Rodrigo Ambrosio Fock, Maria Rita Passos-Bueno, André Pessoa, Frederico Monfardini, Elisa Varella-Branco, Maria D. Vibranovski, Ana Cristina Victorino Krepischi, Naila Cristina Vilaça Lourenço

المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-10 (2019)
Journal of Neurodevelopmental Disorders

مصطلحات موضوعية: Male, Pediatrics, Chromosomes, Human, Pair 22, Chromosome Disorders, Cohort Studies, 0302 clinical medicine, Intellectual disability, Global developmental delay, Copy-number variation, Autism spectrum disorder, Child, SHANK3, 05 social sciences, Genetic disorder, Hypotonia, Child, Preschool, Cohort, Female, Chromosome Deletion, medicine.symptom, Haploinsufficiency, Brazil, 050104 developmental & child psychology, Adult, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, 22q13.3 deletion syndrome, Cognitive Neuroscience, Nerve Tissue Proteins, lcsh:RC321-571, Pathology and Forensic Medicine, Young Adult, 03 medical and health sciences, medicine, Humans, 0501 psychology and cognitive sciences, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Genetic Association Studies, business.industry, Research, Infant, DELEÇÃO DE GENES, medicine.disease, Pediatrics, Perinatology and Child Health, Phelan-McDermid syndrome, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7cac4e566313f2e69c27272b3017b35