Publications by authors named "Filippo Vairo"

Claim this Profile
C
Clinical and Genetic Predictors of Non-Alcoholic Steatotic Liver Disease and Fibrosis in Lean Individuals.
Karina Sato-Espinoza, Robert A Vierkant, Perapa Chotiprasidhi, Filippo Pinto E Vairo, Shulan Tian

Liver Int· October 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.
Alejandro Ferrer, Patrick Duffy, Rory J Olson, Michael A Meiners, Laura Schultz-Rogers, Filippo Pinto E Vairo

Hum Genet· May 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report.
Karina Carvalho Donis, Marco Antônio Baptista Kalil, Fabiano Poswar, Fernando Kok, Charles Lubianca Kohem, Filippo Pinto E Vairo

Genet Mol Biol· April 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Disease progression in Sanfilippo type B: Case series of Brazilian patients.
Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, Mariluce Riegel-Giugliani, Carolina Fischinger Moura de Souza, Filippo Pinto E Vairo

Genet Mol Biol· March 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
variants in Brazilian Gaucher disease patients.
Suelen Porto Basgalupp, Vivian Altmann, Filippo Pinto E Vairo, Ida Vanessa Doederlein Schwartz, Marina Siebert

Mol Genet Metab Rep· December 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Pilot study of newborn screening for six lysosomal diseases in Brazil.
Francyne Kubaski, Ines Sousa, Tatiana Amorim, Danilo Pereira, Camilo Silva, Filippo Vairo

Mol Genet Metab· November 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies.
Pablo Brea Winckler, Bruna Cristine Chwal, Marco Antonnio Rocha Dos Santos, Daniela Burguêz, Marcia Polese-Bonatto, Filippo Pinto E Vairo

Neurol Sci· July 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
Margot A Cousin, Emma L Veale, Nikita R Dsouza, Swarnendu Tripathi, Robyn G Holden, Filippo Vairo

Genome Med· June 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical and molecular correlates from a predominantly adult cohort of patients with short telomere lengths.
Abhishek A Mangaonkar, Alejandro Ferrer, Filippo Pinto E Vairo, Caleb W Hammel, Carri Prochnow

Blood Cancer J· October 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Bone marrow burden score is not useful as a follow-up parameter in stable patients with type 1 Gaucher disease after 5 years of treatment.
Livia d'Ávila Paskulin, Rodrigo Tzovenos Starosta, Débora Bertholdo, Filippo Pinto Vairo, Leonardo Vedolin

Blood Cells Mol Dis· September 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
Histomorphometric analysis of liver biopsies of treated patients with Gaucher disease type 1.
Rodrigo Tzovenos Starosta, Marina Siebert, Filippo Pinto E Vairo, Bruno Lafaiete de Lima Costa, Christiano Tomaso Ponzoni

Autops Case Rep· August 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Therapeutic Options for Mucopolysaccharidosis II (Hunter Disease).
Francyne Kubaski, Filippo Vairo, Guilherme Baldo, Fabiano de Oliveira Poswar, Amauri Dalla Corte

Curr Pharm Des· April 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center.
Ana Paula Pereira Scholz de Magalhães, Maira Graeff Burin, Carolina Fischinger Moura de Souza, Fernanda Hendges de Bitencourt, Fernanda Medeiros Sebastião, Filippo Pinto E Vairo

J Pediatr (Rio J)· January 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series.
Ferdy S van Geest, Marcel E Meima, Kyra E Stuurman, Nicole I Wolf, Marjo S van der Knaap, Filippo Vairo

J Clin Endocrinol Metab· January 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.
Pâmella Borges, Gabriela Pasqualim, Roberto Giugliani, Filippo Vairo, Ursula Matte

Orphanet J Rare Dis· November 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype.
Rodrigo Tzovenos Starosta, Jessica Tarnowski, Filippo Pinto E Vairo, Kimiyo Raymond, Graeme Preston

Eur J Med Genet· July 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Liver involvement in patients with Gaucher disease types I and III.
Rodrigo Tzovenos Starosta, Filippo Pinto E Vairo, Alícia Dorneles Dornelles, Suélen Porto Basgalupp, Marina Siebert

Mol Genet Metab Rep· March 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mucopolysaccharidosis Type I.
Francyne Kubaski, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli, Ursula da Silveira Matte, Dafne D Horovitz, Filippo Vairo

Diagnostics (Basel)· March 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Rare genotype associated with severe bone disease in Gaucher disease type 1.
Livia d'Avila Paskulin, Rodrigo Tzovenos Starosta, Vitória Schütt Zizemer, Suélen Basgalupp, Débora Bertholdo, Filippo Pinto E Vairo

Mol Genet Metab Rep· December 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma.
Fernanda Sperb-Ludwig, Taciane Alegra, Renata Voltolini Velho, Nataniel Ludwig, Marina Siebert, Filippo Vairo

Genet Mol Biol· November 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genetic analysis of patients with fructose-1,6-bisphosphatase deficiency.
Franciele Cabral Pinheiro, Fernanda Sperb-Ludwig, Rodrigo Ligabue-Braun, Lavínia Schüler-Faccini, Carolina Fischinger Moura de Souza, Filippo Vairo

Gene· May 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Evaluation of the frequency of non-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1.
Matheus V M B Wilke, Alícia D Dornelles, Artur S Schuh, Filippo P Vairo, Suelen P Basgalupp

Orphanet J Rare Dis· May 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Lysosomal diseases: Overview on current diagnosis and treatment.
Fabiano de Oliveira Poswar, Filippo Vairo, Maira Burin, Kristiane Michelin-Tirelli, Ana Carolina Brusius-Facchin

Genet Mol Biol· April 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Breastfeeding in patients with Gaucher disease: Is taliglucerase alfa safe?
Livia Paskulin, Alícia Dorneles Dornelles, Amanda Quevedo, Tatiele Nalin, Kristiane Michellin Tirelli, Filippo Vairo

Mol Genet Metab Rep· March 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Katherine L Helbig, Robert J Lauerer, Jacqueline C Bahr, Ivana A Souza, Candace T Myers, Filippo Vairo

Am J Hum Genet· March 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis