Publications by authors named "Maria J Simoes"

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka

Am J Hum Genet· November 2025

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Epidemiology and genetic diversity of invasive Neisseria meningitidis strains circulating in Portugal from 2003 to 2020.
Célia Bettencourt, Alexandra Nunes, Paulo Nogueira, Sílvia Duarte, Catarina Silva

Int Microbiol· August 2024

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka

Am J Hum Genet· June 2023

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Mass Spectrometry-Based Proteomic and Metabolomic Profiling of Serum Samples for Discovery and Validation of Tuberculosis Diagnostic Biomarker Signature.
Ana Filipa Fernandes, Luís Gafeira Gonçalves, Maria Bento, Sandra I Anjo, Bruno Manadas

Int J Mol Sci· November 2022

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Distinguishing from Pyogenic Acute Septic Arthritis in Young Portuguese Children.
Catarina Gouveia, Ana Subtil, Susana Norte, Joana Arcangelo, Madalena Almeida Santos

Microorganisms· June 2022

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Genomic surveillance of Neisseria meningitidis serogroup W in Portugal from 2003 to 2019.
Célia Bettencourt, Alexandra Nunes, João Paulo Gomes, Maria João Simões

Eur J Clin Microbiol Infect Dis· February 2022

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Seroprevalence of meningococcal serogroup C bactericidal antibodies in the Portuguese population, a decade after vaccine introduction in the National Immunisation Programme.
Paulo Gonçalves, Emma Sáez-López, Sofia Carneiro, Maria João Simões

PLoS One· September 2021

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Kingella kingae Displaced S. aureus as the Most Common Cause of Acute Septic Arthritis in Children of All Ages.
Catarina Gouveia, Mariana Duarte, Susana Norte, Joana Arcangelo, Margarida Pinto

Pediatr Infect Dis J· July 2021

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Lung abscess due to Neisseria meningitidis serogroup X-unexpected virulence of a commensal resulting from putative serogroup B capsular switching.
Célia Bettencourt, Alexandra Nunes, Ana Maria Correia, João Paulo Gomes, Maria João Simões

Eur J Clin Microbiol Infect Dis· December 2020

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Association of Use of a Meningococcus Group B Vaccine With Group B Invasive Meningococcal Disease Among Children in Portugal.
Fernanda M P Rodrigues, Robin Marlow, Maria João Simões, Leon Danon, Shamez Ladhani

JAMA· December 2020

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Telemedicine in COPD: An Overview by Topics.
Miguel T Barbosa, Cláudia S Sousa, Mário Morais-Almeida, Maria J Simões, Pedro Mendes

COPD· October 2020

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SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma.
Terri L Young, Kristina N Whisenhunt, Jing Jin, Sarah M LaMartina, Sean M Martin

Invest Ophthalmol Vis Sci· October 2020

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A rare cause of vertebral osteomyelitis: the first case report of rat-bite fever in Portugal.
Eduarda Pena, Sofia Jordão, Maria João Simões, Mónica Oleastro, Isabel Neves

Rev Soc Bras Med Trop· February 2020

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Fatal Meningitis in Patient with X-Linked Chronic Granulomatous Disease Caused by Virulent Granulibacter bethesdensis.
Mafalda Rebelo, Li Ding, Ana Isabel Cordeiro, Conceição Neves, Maria João Simões

Emerg Infect Dis· May 2019

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Genetic Meningococcal Antigen Typing System (gMATS): A genotyping tool that predicts 4CMenB strain coverage worldwide.
Alessandro Muzzi, Alessandro Brozzi, Laura Serino, Margherita Bodini, Raquel Abad

Vaccine· February 2019

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Predicted strain coverage of a meningococcal multicomponent vaccine (4CMenB) in Portugal.
Maria João Simões, Célia Bettencourt, Rosita De Paola, Maria Giuliani, Mariagrazia Pizza

PLoS One· September 2017

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Novel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patient.
Susana Carmona, Maria da Luz Freitas, Hugo Froufe, Maria José Simões, Maria João Sampaio

Am J Med Genet A· June 2017

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[Klebsiella pneumoniae from K1 and Hypervirulent Clone ST23: First Documented Case in Portugal].
Aida Pereira, Tiago Petrucci, Maria João Simões

Acta Med Port· June 2017

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Meningococcal serogroup Y disease in Europe: Continuation of high importance in some European regions in 2013.
Michael Bröker, Stéphane Emonet, Cecilia Fazio, Susanne Jacobsson, Maria Koliou

Hum Vaccin Immunother· May 2016

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Legionella pneumophila strain associated with the first evidence of person-to-person transmission of Legionnaires' disease: a unique mosaic genetic backbone.
Vítor Borges, Alexandra Nunes, Daniel A Sampaio, Luís Vieira, Jorge Machado

Sci Rep· May 2016

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Methylotroph Infections and Chronic Granulomatous Disease.
E Liana Falcone, Jennifer R Petts, Mary Beth Fasano, Bradley Ford, William M Nauseef

Emerg Infect Dis· March 2016

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Probable Person-to-Person Transmission of Legionnaires' Disease.
Ana M Correia, Joana S Ferreira, Vítor Borges, Alexandra Nunes, Bernardo Gomes

N Engl J Med· February 2016

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Genetic variants in ICAM1, PPARGC1A and MTHFR are potentially associated with different phenotypes of diabetic retinopathy.
Maria José Simões, Conceição Lobo, Conceição Egas, Sandrina Nunes, Susana Carmona

Ophthalmologica· July 2015

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Meningococcal serogroup Y emergence in Europe: high importance in some European regions in 2012.
Michael Bröker, Suzana Bukovski, Davor Culic, Susanne Jacobsson, Maria Koliou

Hum Vaccin Immunother· June 2015

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Assessment of the geographic origins of pinewood nematode isolates via single nucleotide polymorphism in effector genes.
Joana Figueiredo, Maria José Simões, Paula Gomes, Cristina Barroso, Diogo Pinho

PLoS One· August 2014

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