Zobrazeno 1 - 10 of 49 pro vyhledávání: '"R. Bertola"'
1
Akademický článek
Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil
Autor: Ana C. V. Krepischi, Darine Villela, Silvia Souza da Costa, Patricia C. Mazzonetto, Juliana Schauren, Michele P. Migliavacca, Fernanda Milanezi, Juliana G. Santos, Gustavo Guida, Rodrigo Guarischi-Sousa, Gustavo Campana, Fernando Kok, David Schlesinger, Joao Paulo Kitajima, Francine Campagnari, Debora R. Bertola, Angela M. Vianna-Morgante, Peter L. Pearson, Carla Rosenberg
Publikováno v: Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)
Abstract Chromosomal microarray analysis (CMA) has been recommended and practiced routinely since 2010 both in the USA and Europe as the first-tier cytogenetic test for patients with unexplained neurodevelopmental delay/intellectual disability, autis
Externí odkaz: https://doaj.org/article/e717f34c0e7c4ec6bad7b53048b5a30f
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2
Akademický článek
Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability
Autor: Ruizhi Duan, Hadia Hijazi, Elif Yilmaz Gulec, Hatice Koçak Eker, Silvia R. Costa, Yavuz Sahin, Zeynep Ocak, Sedat Isikay, Ozge Ozalp, Sevcan Bozdogan, Huseyin Aslan, Nursel Elcioglu, Débora R. Bertola, Alper Gezdirici, Haowei Du, Jawid M. Fatih, Christopher M. Grochowski, Gulsen Akay, Shalini N. Jhangiani, Ender Karaca, Shen Gu, Zeynep Coban-Akdemir, Jennifer E. Posey, Yavuz Bayram, V. Reid Sutton, Claudia M.B. Carvalho, Davut Pehlivan, Richard A. Gibbs, James R. Lupski
Publikováno v: HGG Advances, Vol 3, Iss 4, Pp 100132- (2022)
Summary: Genetic heterogeneity, reduced penetrance, and variable expressivity, the latter including asymmetric body axis plane presentations, have all been described in families with congenital limb malformations (CLMs). Interfamilial and intrafamili
Externí odkaz: https://doaj.org/article/335675b4b479443ca3e74cb451032f99
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3
Akademický článek
Targeted massively parallel sequencing for congenital generalized lipodystrophy
Autor: Aline D. Costa-Riquetto, Lucas S. Santana, Lílian A. Caetano, Antônio M. Lerário, Joya E. M. Correia-Deur, Débora R. Bertola, Chong A. Kim, Márcia Nery, Alexander A. L. Jorge, Milena G. Teles
Publikováno v: Archives of Endocrinology and Metabolism, Vol 64, Iss 5, Pp 559-566 (2020)
ABSTRACT Objective: Our aim is to establish genetic diagnosis of congenital generalized lipodystrophy (CGL) using targeted massively parallel sequencing (MPS), also known as next-generation sequencing (NGS). Subjects and methods: Nine unrelated indiv
Externí odkaz: https://doaj.org/article/f40995cb8582482dbd7b0a71bbb797e7
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4
Akademický článek
Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome
Autor: Christopher M. Grochowski, Ana C. V. Krepischi, Jesper Eisfeldt, Haowei Du, Debora R. Bertola, Danyllo Oliveira, Silvia S. Costa, James R. Lupski, Anna Lindstrand, Claudia M. B. Carvalho
Publikováno v: Frontiers in Genetics, Vol 12 (2021)
Chromoanagenesis is a descriptive term that encompasses classes of catastrophic mutagenic processes that generate localized and complex chromosome rearrangements in both somatic and germline genomes. Herein, we describe a 5-year-old female presenting
Externí odkaz: https://doaj.org/article/8a873fbdda0b4b51851f5d6ff4ae32c4
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5
Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants
Autor: Luiza D. Chaves, Laura M. L. Carvalho, Giovanna C. Tolezano, Sara F. Pires, Silvia S. Costa, Marília de O. Scliar, Liane de R. Giuliani, Debora R. Bertola, Cintia B. Santos-Rebouças, Go Hun Seo, Paulo A. Otto, Carla Rosenberg, Angela M. Vianna-Morgante, Ana Cristina Victorino Krepischi
Publikováno v: Molecular Neurobiology. 60:3758-3769
Intellectual disability (ID) is an early onset impairment in cognitive functioning and adaptive behavior, affecting approximately 1% of the population worldwide. Extreme deviations of X-chromosome inactivation (XCI) can be related to ID phenotypes ca
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44428a53c5bae0310dc97a8fe25b72c8
https://doi.org/10.1007/s12035-023-03311-0
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7
Akademický článek
Insights Into the Somatic Mutation Burden of Hepatoblastomas From Brazilian Patients
Autor: Talita Ferreira Marques Aguiar, Maria Prates Rivas, Silvia Costa, Mariana Maschietto, Tatiane Rodrigues, Juliana Sobral de Barros, Anne Caroline Barbosa, Renan Valieris, Gustavo R. Fernandes, Debora R. Bertola, Monica Cypriano, Silvia Regina Caminada de Toledo, Angela Major, Israel Tojal, Maria Lúcia de Pinho Apezzato, Dirce Maria Carraro, Carla Rosenberg, Cecilia Maria Lima da Costa, Isabela W. Cunha, Stephen Frederick Sarabia, Dolores-López Terrada, Ana Cristina Victorino Krepischi
Publikováno v: Frontiers in Oncology, Vol 10 (2020)
Hepatoblastoma is a very rare embryonal liver cancer supposed to arise from the impairment of hepatocyte differentiation during embryogenesis. In this study, we investigated by exome sequencing the burden of somatic mutations in a cohort of 10 hepato
Externí odkaz: https://doaj.org/article/9bd375a225c849cfb1b8fab36db5d1e3
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8
Akademický článek
A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability
Autor: J. R. M. Ceroni, R. L. Dutra, R. S. Honjo, J. C. Llerena, A. X. Acosta, P. F. V. Medeiros, M. F. Galera, É. A. Zanardo, F. B. Piazzon, A. T. Dias, G. M. Novo-Filho, M. M. Montenegro, F. A. R. Madia, D. R. Bertola, J. B. de Melo, L. D. Kulikowski, C. A. Kim
Publikováno v: Scientific Reports, Vol 8, Iss 1, Pp 1-8 (2018)
Abstract Genomic imbalances are the most common cause of congenital anomalies (CA) and intellectual disability (ID). The aims of this study were to identify copy number variations (CNVs) in 416 patients with CA and ID from 5 different genetics center
Externí odkaz: https://doaj.org/article/5ba3d08972bd4534a02dc2cb4cb992df
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9
Akademický článek
Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency
Autor: Beatriz D. S. F. Bonamichi, Stella L. M. Santiago, Débora R. Bertola, Chong A. Kim, Nivaldo Alonso, Berenice B. Mendonca, Tania A. S. S. Bachega, Larissa G. Gomes
Publikováno v: Archives of Endocrinology and Metabolism, Vol 60, Iss 5, Pp 500-504 (2016)
SUMMARY P450 oxidoreductase deficiency (PORD) is a variant of congenital adrenal hyperplasia that is caused by POR gene mutations. The POR gene encodes a flavor protein that transfers electrons from nicotinamide adenine dinucleotide phosphate (NADPH)
Externí odkaz: https://doaj.org/article/df86afc9d68f45c9ab37d97e9ef92f6a
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