Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Fabíola, Paoli Monteiro"'
Autor:
Ilária Cristina Sgardioli, Fabíola Paoli Monteiro, Paulo Fanti, Társis Paiva Vieira, Vera Lúcia Gil-da-Silva-Lopes
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-8 (2019)
Abstract Background The clinical heterogeneity of the 22q11.2 Deletion Syndrome (22q11.2DS – OMIM, #188400 and #192430) is a universal challenge leading to diagnostic delay. The aim of this study was to evaluate a low cost strategy for the diagnosi
Externí odkaz:
https://doaj.org/article/1a1ebce888954e17b99ab6094d085c00
Autor:
Franciele Cabral Pinheiro, Rodrigo Ligabue-Braun, Ana Cecília Menezes de Siqueira, Camila Matuella, Carolina Fischinger Moura de Souza, Fabíola Paoli Monteiro, Fernando Kok, Ida Vanessa Doederlein Schwartz, Fernanda Sperb-Ludwig
Publikováno v:
Genetics and Molecular Biology, Vol 44, Iss 2 (2021)
Abstract Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare inborn error of fructose metabolism caused by pathogenic variants in the FBP1 gene. As gluconeogenesis is affected, catabolic episodes can induce ketotic hypoglycemia in patients. FBP
Externí odkaz:
https://doaj.org/article/54dda3fbf66d4e299fe2cad4b5412f16
Autor:
Miriam Coelho Molck, Milena Simioni, Társis Paiva Vieira, Ilária Cristina Sgardioli, Fabíola Paoli Monteiro, Josiane Souza, Agnes Cristina Fett‐Conte, Têmis Maria Félix, Isabella Lopes Monlléo, Vera Lúcia Gil‐da‐Silva‐Lopes
Publikováno v:
Jornal de Pediatria (Versão em Português), Vol 93, Iss 5, Pp 497-507 (2017)
Objective: To identify pathogenic genomic imbalances in patients presenting congenital heart disease (CHD) with extra cardiac anomalies and exclusion of 22q11.2 deletion syndrome (22q11.2 DS). Methods: 78 patients negative for the 22q11.2 deletion, p
Externí odkaz:
https://doaj.org/article/3f3992170e8e45dd87eb85b3d4f77168
Autor:
Mais Hashem, Jonathan A. Bernstein, Carlos Frederico Martins Menck, Brandon J. Willis, Aziza Chedrawi, Heather M. Byers, Matthew T. Wheeler, Arne Jahn, Danyllo Oliveira, João Paulo Kitajima, Fowzan S. Alkuraya, Lynette Bower, Elizabeth Spiteri, Fabíola Paoli Monteiro, Mayana Zatz, Hessa S. Alsaif, Brian C. Leonard, Uirá Souto Melo, Nataliya Di Donato, Devon Bonner, Ala Moshiri, Fernando Kok, Louise Lanoue, Kevin Dumas, Kevin C K Lloyd, Fernando Ribeiro Gomes, Felipe de Souza Leite, Davi Jardim Martins
Publikováno v:
GENETICS IN MEDICINE
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Purpose To identify novel genes associated with intellectual disability (ID) in four unrelated families. Methods Here, through exome sequencing and international collaboration, we report eight individuals from four unrelated families of diverse geogr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::341f8579d570115f2ad5f6922f70ce3a
https://doi.org/10.1038/s41436-020-01047-z
https://doi.org/10.1038/s41436-020-01047-z
Autor:
Amom M. Nascimento, Luiza Ramos, João Paulo Kitajima, Samar N. Chehimi, Fabíola Paoli Monteiro, Larissa Sampaio de Athayde Costa, Evelin Aline Zanardo, Alexandre T. Dias, Fernando Kok, Gil M. Novo-Filho, Leslie Domenici Kulikowski, Marília M. Montenegro, Y. G. Oliveira
Publikováno v:
The Journal of Molecular Diagnostics. 22:1041-1049
Overcoming challenges for the unambiguous detection of copy number variations is essential to broaden our understanding of the role of genomic variants in the clinical phenotype. With the improvement of software and databases, whole-exome sequencing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6bdfc421690d6e545c31c11926e40d7
https://doi.org/10.1016/j.jmoldx.2020.05.007
https://doi.org/10.1016/j.jmoldx.2020.05.007
Autor:
Luiza Ramos, Luis Filipe de Souza Godoy, Eliana Garzon, Bruno Della-Rippa, Fernando Kok, Larissa Sampaio de Athayde Costa, Fabíola Paoli Monteiro, Daniel de Souza Delgado, Luciana Midori Inuzuka, Lúcia Inês Macedo-Souza
Publikováno v:
Epileptic Disorders. 22:317-322
ATP6V1B2 encodes a subunit of the lysosomal transmembrane proton pump necessary for adequate functioning of several acid hydrolases. De novo monoallelic variants of this gene have been associated with two distinct phenotypes: Zimmermann-Laband syndro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74c2b8771e7b072471088ef9f000efa0
https://doi.org/10.1684/epd.2020.1166
https://doi.org/10.1684/epd.2020.1166
Autor:
Carolina Fischinger Moura de Souza, Fabíola Paoli Monteiro, Rodrigo Ligabue-Braun, Camila Matuella, Ida Vanessa Doederlein Schwartz, Fernanda Sperb-Ludwig, Fernando Kok, Ana Cecília Menezes de Siqueira, Franciele Cabral Pinheiro
Publikováno v:
Genetics and Molecular Biology, Volume: 44, Issue: 2, Article number: e20200281, Published: 14 MAY 2021
Genetics and Molecular Biology
Genetics and Molecular Biology, Vol 44, Iss 2 (2021)
Genetics and Molecular Biology
Genetics and Molecular Biology, Vol 44, Iss 2 (2021)
Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare inborn error of fructose metabolism caused by pathogenic variants in the FBP1 gene. As gluconeogenesis is affected, catabolic episodes can induce ketotic hypoglycemia in patients. FBP1 analysi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a956340ab81db60af748cc3363458df
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572021000300110&lng=en&tlng=en
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572021000300110&lng=en&tlng=en
Autor:
Gilles Morin, Krista Bluske, Nathaniel H. Robin, Laurence Faivre, Manuela Priolo, Dihong Zhou, Evangeline Kurtz-Nelson, Tianyun Wang, Omar Sherbini, Daryl A. Scott, Karen Stals, Fabíola Paoli Monteiro, Kaifang Pang, Sara Cabet, Francesca Clementina Radio, Bruno Dallapiccola, Marjon van Slegtenhorst, Rachel K. Earl, Katheryn Grand, Maria Iascone, Alice S. Brooks, Angelo Selicorni, July K. Jean Cuevas, Paolo Gasparini, Maria Lisa Dentici, Marialetizia Motta, Britt-Marie Anderlid, Kristin Lindstrom, Berrin Monteleone, Andrea Ciolfi, Karin Weiss, Katharina Steindl, Kirsty McWalter, Rosalba Carrozzo, Ruben Boers, Helen Kingston, Kym M. Boycott, Bekim Sadikovic, Laura Schultz-Rogers, Evan E. Eichler, Laura A Cross, Alison M R Castle, Louisa Kalsner, Lucia Pedace, Marijke R. Wevers, John M. Graham, Jessica Sebastian, Antonio Vitobello, Gaetan Lesca, Alexander P.A. Stegmann, Suneeta Madan-Khetarpal, Tahsin Stefan Barakat, Abdallah F. Elias, Teresa Robert Finestra, Adeline Vanderver, Peter D. Turnpenny, Bregje W.M. van Bon, Aida Telegrafi, David J. Amor, Deepali N. Shinde, Pedro A. Sanchez-Lara, Lisenka E.L.M. Vissers, Adam Jackson, Rolph Pfundt, Alessandro Bruselles, Andres Hernandez-Garcia, Karin E. M. Diderich, Flavio Faletra, Dana H. Goodloe, Joanne Baez, Sarit Ravid, Romano Tenconi, Sarah L. Sawyer, Lynn Pais, Bronwyn Kerr, Joost Gribnau, Lauren Carter, Melissa T. Carter, Zhandong Liu, Jennifer L. Kemppainen, Jennifer MacKenzie, Jimmy Holder, Elke de Boer, Margaret Au, Taila Hartley, Carol J Saunders, Luciana Musante, Bert B.A. de Vries, Tania Vertemati Secches, Haley McConkey, Willow Sheehan, Francesca Pantaleoni, Caterina Zanus, Christophe Philippe, Chelsea Roadhouse, Stefania Lo Cicero, Sian Ellard, R. Tanner Hagelstrom, Megha Desai, Fernando Kok, Joset Pascal, Marco Tartaglia, Eric W. Klee, Eva Morava, Michael A. Levy, Peggy Kulch, Lyndon Gallacher, Erica L. Macke, Emilia Stellacci, Siddharth Banka, Kristin G. Monaghan, Anita Rauch, Meghan C. Towne, Kate Chandler
Publikováno v:
American Journal of Human Genetics, 108(3), 502-516. Cell Press
American Journal of Human Genetics, 108, 3, pp. 502-516
Am J Hum Genet
American Journal of Human Genetics, 108, 502-516
American Journal of Human Genetics, 108, 3, pp. 502-516
Am J Hum Genet
American Journal of Human Genetics, 108, 502-516
Contains fulltext : 231702.pdf (Publisher’s version ) (Closed access) Deletion 1p36 (del1p36) syndrome is the most common human disorder resulting from a terminal autosomal deletion. This condition is molecularly and clinically heterogeneous. Delet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ca1a210d6320f77ca12d03a0549f6d7
https://pure.eur.nl/en/publications/6c5a2968-0de0-4074-8849-a2d72291e184
https://pure.eur.nl/en/publications/6c5a2968-0de0-4074-8849-a2d72291e184
Autor:
Luiza Ramos, Lucia Sukys-Claudino, Luciana Midori Inuzuka, Sérgio A. Antoniuk, Rafaelle Batistella Pires, Sabrina Stephanie Lana Diniz, Fernando Kok, Lúcia Inês Macedo-Souza, Charles Marques Lourenço, Christiane C. Pedreira, Daniela Viana Pachito, Fabíola Paoli Monteiro, Leonardo Salvador Gaspar, Larissa Sampaio de Athayde Costa, Eliana Garzon, Matheus Guerra-Peixe, Ana Chrystina de Souza Crippa, Juliana Gurgel-Giannetti, Luis Paulo de Souza Dutra
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 34
Objective To present a cohort of 8 males and perform a systematic review of all published cases with a single copy of MECP2 carrying a pathogenic variant. Methods We reviewed medical records of males with a single copy of MECP2 carrying a pathogenic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61b7d650c2f5829e30841fed5a8265ba
https://pubmed.ncbi.nlm.nih.gov/34271245
https://pubmed.ncbi.nlm.nih.gov/34271245
Autor:
Bruno Della-Ripa, Lúcia Inês Macedo-Souza, Fernando Kok, Eliana Garzon, Daniel de Souza Delgado, Luciana Midori Inuzuka, Fabíola Paoli Monteiro, Christiane C. Pedreira, Matheus Guerra-Peixe, João Paulo Kitajima
Publikováno v:
Braindevelopment. 43(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::869440f7d7b8b5c6456629e408b2de5c
https://pubmed.ncbi.nlm.nih.gov/33494954
https://pubmed.ncbi.nlm.nih.gov/33494954