Zobrazeno 1 - 10 of 66 pro vyhledávání: '"Rita de Cássia M Pavanello"'
1
Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita
Autor: Lucas Santos Souza, P. Calyjur, Mariz Vainzof, Juliana Gurgel-Giannetti, Antonio Fernando Ribeiro, Mayana Zatz, Rita de Cássia M. Pavanello
Publikováno v: Journal of Molecular Neuroscience. 71:2275-2280
Myotonia congenita is a genetic disease caused by mutations in the CLCN1 gene, which encodes for the major chloride skeletal channel ClC-1, involved in the normal repolarization of muscle action potentials and consequent relaxation of the muscle afte
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::18780cd7cfd866e1f4dfc5b81e52a457
https://doi.org/10.1007/s12031-020-01785-4
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2
Newborn screening for 5q Spinal Muscular Atrophy: Comparisons between real-time PCR methodologies and cost estimations for future implementation programs
Autor: Mayana Zatz, Rita de Cássia M. Pavanello, Vanessa Luiza Romanelli Tavares, Karina Weinmann, Frederico Monfardini, Naila Cristina Vilaça Lourenço, Kátia Maria da Rocha
Publikováno v: 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)
Since the approval of modifying therapies for Spinal Muscular Atrophy (SMA), several protocols aiming to screen SMN1 homozygous deletion in a neonatal context have been published. However, no work has compared different methodologies along with detai
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5933054f265ed1ed85316aa12a90bf5a
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3
Manifesting carriers of X-linked myotubular myopathy
Autor: Edmar Zanoteli, Marilia O. Scliar, Lucas Santos Souza, Erick C. Castelli, Juliana Gurgel-Giannetti, Isabela Pessa Anequini, Mariz Vainzof, Camila F. Almeida, Guilherme L. Yamamoto, Silvia S. Costa, Paulo Alberto Otto, Silvana Amanda do Carmo, Rita de Cássia M. Pavanello, Jaqueline Yu Ting Wang
Publikováno v: Scopus
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP
Made available in DSpace on 2021-06-25T11:03:08Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-01-01 Objective To analyze the modulation of the phenotype in manifesting carriers of recessive X-linked myotubular myopathy (XLMTM), searching for
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4edd3e419287512677df938d312def81
https://doi.org/10.1212/nxg.0000000000000513
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4
Efficient exon skipping of SGCG mutations mediated by phosphorodiamidate morpholino oligomers
Autor: Quan Q. Gao, Elizabeth M. McNally, Lisa Dellefave-Castillo, Andy H. Vo, Mayana Zatz, Ellis Y. Kim, Alexis R. Demonbreun, Rita de Cássia M. Pavanello, Eugene Wyatt, Megan J. Puckelwartz, Mariz Vainzof
Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Exon skipping uses chemically modified antisense oligonucleotides to modulate RNA splicing. Therapeutically, exon skipping can bypass mutations and restore reading frame disruption by generating internally truncated, functional proteins to rescue the
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c44199a2a5a0d947f0d7ddfb60be2a8
https://europepmc.org/articles/PMC6012523/
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5
Development of a comprehensive noninvasive prenatal test
Autor: Carolina Malcher, Mayana Zatz, Philip Burnham, Guilherme L. Yamamoto, Marco Antonio Borges Lopes, Sahilla Balkassmi, Naila Cristina Vilaça Lourenço, Rita de Cássia M. Pavanello, Egbert Bakker, Gabriella Shih Ping Hsia, David S. Marco Antonio, Iwijn De Vlaminck, Suzana A. M. Ezquina, Thomaz Rafael Gollop, Débora Romeo Bertola, Maria Rita Passos-Bueno
Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Genetics and Molecular Biology, Vol 41, Iss 3, Pp 545-554 (2018)
Genetics and Molecular Biology v.41 n.3 2018
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Volume: 41, Issue: 3, Pages: 545-554, Published: 16 JUL 2018
Genetics and Molecular Biology, Issue: ahead, Published: 16 JUL 2018
Our aim was to develop and apply a comprehensive noninvasive prenatal test (NIPT) by using high-coverage targeted next-generation sequencing to estimate fetal fraction, determine fetal sex, and detect trisomy and monogenic disease without parental ge
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44863e4f5fad41f334dd27bc9d100cb4
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6
Reviewing Large LAMA2 Deletions and Duplications in Congenital Muscular Dystrophy Patients
Autor: Jorge Oliveira, Mário Sousa, I. Fineza, Rita de Cássia M. Pavanello, Mariz Vainzof, Ana R. Gonçalves, Elsa Bronze-da-Rocha, Rosário Santos, Márcia E. Oliveira
Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Background: Congenital muscular dystrophy (CMD) type 1A (MDC1A) is caused by recessive mutations in laminin-2 (LAMA2) gene. Laminin-211, a heterotrimeric glycoprotein that contains the2 chain, is crucial for muscle stability establishing a bond betwe
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b90cebe58709bf9f22097d38acc2eff
https://doi.org/10.3233/jnd-140031
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7
Assessing Pathogenicity for Novel Mutation/Sequence Variants: The Value of Healthy Older Individuals
Autor: Mayana Zatz, Mariz Vainzof, A Cerqueira, Rita de Cássia M. Pavanello, Monize Lazar, Naila Cristina Vilaça Lourenço
Publikováno v: Neuromolecular Medicine
Improvement in DNA technology is increasingly revealing unexpected/unknown mutations in healthy persons and generating anxiety due to their still unknown health consequences. We report a 44-year-old healthy father of a 10-year-old daughter with bilat
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b84d4ab6201af7747094c51c87d7fd9a
http://europepmc.org/articles/PMC3505535
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8
Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype
Autor: L.U. Yamamoto, Mariz Vainzof, Dinorah Zilbersztajn-Gotlieb, Juliana Gurgel-Giannetti, Mayana Zatz, Rita de Cássia M. Pavanello, Viviane P. Muniz, Adriano Souza Senkevics, Acary Souza Bulle Oliveira
Publikováno v: Muscle & Nerve. 45:279-283
We describe a large Brazilian consanguineous kindred with 3 clinically affected patients with a Thomsen myo- tonia phenotype. They carry a novel homozygous nonsense mutation in the CLCN1 gene (K248X). None of the 6 heterozy- gote carriers show any si
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::02ed98e9004e43a70e9b374e035b7efc
https://doi.org/10.1002/mus.22252
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10
Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers
Autor: Alvin T. Kho, P. Arashiro, Mayana Zatz, Helga Cristina Almeida da Silva, Iris Eisenberg, Sergio Verjovski-Almeida, Louis M. Kunkel, Marta Canovas, A Cerqueira, Rita de Cássia M. Pavanello
Publikováno v: Proceedings of the National Academy of Sciences. 106:6220-6225
Facioscapulohumeral muscular dystrophy (FSHD) is a progressive muscle disorder that has been associated with a contraction of 3.3-kb repeats on chromosome 4q35. FSHD is characterized by a wide clinical inter- and intrafamilial variability, ranging fr
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f94702f6828ff59e146fa8aa47220f1d
https://doi.org/10.1073/pnas.0901573106
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