Zobrazeno 1 - 10
of 83
pro vyhledávání: '"Denise P Cavalcanti"'
Autor:
Nataniel F Ludwig, Fernanda Sperb-Ludwig, Dévora N Randon, Pricila Bernardi, Liane R Giuliani, Carolina A Moreno, Denise P Cavalcanti, Luiz CS da Silva, Ida V D Schwartz
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Abstract GlcNAc-1-phosphotransferase is a hexameric complex formed by subunits α, β, and γ, where the first two are encoded by the GNPTAB gene and the third by the GNPTG gene. Pathogenic variants identified in the GNPTAB gene cause the diseases Mu
Externí odkaz:
https://doaj.org/article/9cd428fcb85c4b70b77dc6bccf2dc9e5
Autor:
Maria Eduarda Gomes, Fernanda Kehdy, Fernanda Saloum de Neves-Manta, Dafne Dain Gandelman Horovitz, Maria Teresa Sanseverino, Gabriela Ferraz Leal, Têmis Maria Felix, Denise Pontes Cavalcanti, Juan Clinton Llerena, Sayonara Gonzalez
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-7 (2024)
Abstract Cartilage-hair hypoplasia syndrome (CHH) is an autosomal recessive disorder frequently linked to n.72A>G (previously known as n.70A>G and n.71A>G), the most common RMRP variant worldwide. More than 130 pathogenic variants in this gene have a
Externí odkaz:
https://doaj.org/article/34039a6314534692b817227cc3c278af
Autor:
Juan Llerena, Chong Ae Kim, Virginia Fano, Pablo Rosselli, Paulo Ferrez Collett-Solberg, Paula Frassinetti Vasconcelos de Medeiros, Mariana del Pino, Débora Bertola, Charles Marques Lourenço, Denise Pontes Cavalcanti, Têmis Maria Félix, Antonio Rosa-Bellas, Norma Teresa Rossi, Fanny Cortes, Flávia Abreu, Nicolette Cavalcanti, Maria Cecilia Hervias Ruz, Wagner Baratela
Publikováno v:
BMC Pediatrics, Vol 22, Iss 1, Pp 1-13 (2022)
Abstract Background Achondroplasia is the most common bone dysplasia associated with disproportionate short stature, and other comorbidities, such as foramen magnum stenosis, thoracolumbar kyphosis, lumbar hyperlordosis, genu varum and spinal compres
Externí odkaz:
https://doaj.org/article/6cb774ce002b42298b2e3017d9bdf78b
Autor:
Elaine Lustosa-Mendes, Ana P. dos Santos, Társis P. Vieira, Erlane M. Ribeiro, Adriana A. Rezende, Agnes C. Fett-Conte, Denise P. Cavalcanti, Têmis M. Félix, Isabella L. Monlleó, Vera Lúcia Gil-da-Silva-Lopes
Publikováno v:
Jornal de Pediatria, Vol 97, Iss 3, Pp 321-328 (2021)
Objective: This article presents a clinical and cytogenomic approach that focuses on the diagnosis of syndromic oral clefts (OCs). Methods: The inclusion criteria were individuals with OC presenting four or more minor signs and no major defects (non-
Externí odkaz:
https://doaj.org/article/d7933406576f4f5abfff7f3417dc9625
Autor:
Dominyka Batkovskyte, Fiona McKenzie, Fulya Taylan, Pelin Ozlem Simsek‐Kiper, Sarah M Nikkel, Hirofumi Ohashi, Roger E Stevenson, Thuong Ha, Denise P Cavalcanti, Hiroyuki Miyahara, Steven A Skinner, Miguel A Aguirre, Zühal Akçören, Gulen Eda Utine, Tillie Chiu, Kenji Shimizu, Anna Hammarsjö, Koray Boduroglu, Hannah W Moore, Raymond J Louie, Peer Arts, Allie N Merrihew, Milena Babic, Matilda R Jackson, Nikos Papadogiannakis, Anna Lindstrand, Ann Nordgren, Christopher P Barnett, Hamish S Scott, Andrei S Chagin, Gen Nishimura, Giedre Grigelioniene
Publikováno v:
Journal of Bone and Mineral Research. 38:692-706
Refereed/Peer-reviewed Lethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356), also called dysplastic cortical hyperostosis, Al-Gazali type, is an ultra-rare disorder previously reported in only three unrelated individuals. The genetic et
Autor:
Vanessa Pereira Gonçalves de Souza, Valéria Cristine Engrácio Borges, Orlando Francisco Barbosa Nascimento, Jéssica Thayse Virginio Alcântara Duca, Denise Rodrigues Cavalcanti Veras, Olívia Maria Guimarães Marroquim, Aurea Valéria de Melo Franco
Publikováno v:
Revista Brasileira de Odontologia, Vol 75, Iss 0 (2018)
Objective: to evaluate the occurrence of occupational accidents with undergraduate dentistry students from the 5th to 10th period of Centro Universitário Cesmac. Material and Methods: analysis of the notification forms of accidents with exposure to
Externí odkaz:
https://doaj.org/article/652bf52e873c4d0ca79aa7aa3cb696fa
Autor:
Cynthia Silveira, Karina da Costa Silveira, Maria D. Lacarrubba-Flores, Maurício T. Sakata, Silvia N. Carbognani, Juan Llerena Jr., Carolina A. Moreno, Denise P. Cavalcanti
Publikováno v:
Mol Syndromol
Introduction: Pathogenic variants in the SLC26A2/DTDST gene cause the following spectrum of phenotypes: achondrogenesis 1B (ACG1B), atelosteogenesis 2 (AO2), diastrophic dysplasia (DTD), and recessive-multiple epiphyseal dysplasia (rMED), the first 2
Autor:
Julian Stürznickel, Fernanda Sperb-Ludwig, Carolina Araujo Moreno, Giorgia Di Lorenzo, Ida Vanessa Doederlein Schwartz, Timur A. Yorgan, Tim N. Board, Dominic Winter, Sandra Breyer, Louise Lapagesse de Camargo Pinto, Nataniel Floriano Ludwig, Shiva Ahmadi, Luise Ammer, Thomas Renné, Renata Voltolini Velho, Sandra Pohl, Anne Foster, Tatyana Danyukova, Kerstin Kutsche, Tim Rolvien, Michaela Schweizer, Michael Amling, Dévora N Randon, Jean Mercer, Anke Baranowsky, Lena Marie Westermann, Thomas Braulke, Karen Tylee, Nicole Muschol, Thorsten Schinke, Elham Pourbarkhordariesfandabadi, Denise P. Cavalcanti
Publikováno v:
Genetics in Medicine
Purpose Pathogenic variants in GNPTAB and GNPTG, encoding different subunits of GlcNAc-1-phosphotransferase, cause mucolipidosis (ML) II, MLIII alpha/beta, and MLIII gamma. This study aimed to investigate the cellular and molecular bases underlying s
Autor:
Agnes Cristina Fett-Conte, Têmis Maria Félix, Isabella Lopes Monlleó, Erlane Marques Ribeiro, Társis Paiva Vieira, Denise P. Cavalcanti, Ana Paula Santos, Adriana Augusto de Rezende, Elaine Lustosa-Mendes, Vera Lúcia Gil-da-Silva-Lopes
Publikováno v:
Jornal de Pediatria, Vol 97, Iss 3, Pp 321-328 (2021)
Jornal de Pediatria, Volume: 97, Issue: 3, Pages: 321-328, Published: 02 JUL 2021
Jornal de Pediatria v.97 n.3 2021
Jornal de Pediatria
Sociedade Brasileira de Pediatria (SBP)
instacron:SBPE
Jornal de Pediatria, Volume: 97, Issue: 3, Pages: 321-328, Published: 02 JUL 2021
Jornal de Pediatria v.97 n.3 2021
Jornal de Pediatria
Sociedade Brasileira de Pediatria (SBP)
instacron:SBPE
Objective This article presents a clinical and cytogenomic approach that focuses on the diagnosis of syndromic oral clefts (OCs). Methods The inclusion criteria were individuals with OC presenting four or more minor signs and no major defects (non-sy
Autor:
Ana Maria Bolognese, Milagros M. Duenas-Roque, Viviane Freitas de Castro, Maria Teresa Vieira Sanseverino, Viviana Cosentino, Rachel Sayuri Honjo, Larissa Souza Mario Bueno, Juan C. Llerena, Luiz Carlos Santana da Silva, Júlio César Loguercio Leite, Daniel Mattos, Márcia Pereira Alves de Souza, Denise P. Cavalcanti, Pablo Barbero, Pricila Bernardi, Flávia Martinez de Carvalho, Patrícia Santana Correia, Clarice Pagani Savastano, Iêda M. Orioli
Publikováno v:
Molecular Syndromology. 12:219-233
Holoprosencephaly (HPE) is the failure of the embryonic forebrain to develop into 2 hemispheres promoting midline cerebral and facial defects. The wide phenotypic variability and causal heterogeneity make genetic counseling difficult. Heterozygous va