Ana Carolina Brusius Facchin (Ana Carolina Brusius-Facchin)

Publication Activity (10 Years)

Years Active: 2021-2022
Publications (10 Years): 5

Top Topics

End Stage Renal Disease

Staphylococcus Aureus

Autism Spectrum Disorder

Hepatitis C Virus

Top Venues

American journal of medical genetics. Part A

American journal of medical genetics. Part C, Seminars in medical genetics

Neurology. Genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Rowena Rubim Couto, Francyne Kubaski, Marina Siebert, Têmis Maria Félix, Ana Carolina Brusius Facchin, Sandra Leistner-Segal
Increased Serum Levels of miR-125b and miR-132 in Fragile X Syndrome: A Preliminary Study. Neurology. Genetics 8 (6) (2022)
Alessandra Zanetti, Francesca D'Avanzo, Moeenaldeen AlSayed, Ana Carolina Brusius Facchin, Yin-Hsiu Chien, Roberto Giugliani, Emanuela Izzo, David C Kasper, Hsiang-Yu Lin, Shuan-Pei Lin, Laura Pollard, Akashdeep Singh, Rodolfo Tonin, Tim Wood, Amelia Morrone, Rosella Tomanin
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants. Human mutation 42 (11) (2021)
Juliana Alves Josahkian, Ana Carolina Brusius Facchin, Alice Brinckmann Oliveira Netto, Sandra Leistner-Segal, Diana Rojas Málaga, Maira Graeff Burin, Kristiane Michelin-Tirelli, Franciele Barbosa Trapp, Augusto César Cardoso Dos Santos, Erlane Marques Ribeiro, Chong Ae Kim, Ana Cecília Menezes de Siqueira, Mara Lucia Schmitz Ferreira Santos, Daniel Almeida do Valle, Raquel Tavares Boy da Silva, Dafne Dain Gandelman Horovitz, Paula Frassinetti Vasconcelos de Medeiros, Carolina Fischinger Moura de Souza, Liane de Rosso Giuliani, Diego Santana Chaves Geraldo Miguel, Luiz Carlos Santana da Silva, Marcial Francis Galera, Roberto Giugliani
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome. American journal of medical genetics. Part C, Seminars in medical genetics 187 (3) (2021)
Simone Silva Dos Santos-Lopes, Jessica Maria Florêncio de Oliveira, Denise de Queiroga Nascimento, Yorran Hardman Araújo Montenegro, Sandra Leistner-Segal, Ana Carolina Brusius Facchin, Cátia Eufrazino Gondim, Roberto Giugliani, Paula Frassinetti Vasconcelos de Medeiros
Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region. American journal of medical genetics. Part A 185 (10) (2021)
Yorran Hardman Araújo Montenegro, Carolina Fischinger Moura de Souza, Francyne Kubaski, Franciele Barbosa Trapp, Maira Graeff Burin, Kristiane Michelin-Tirelli, Sandra Leistner-Segal, Ana Carolina Brusius Facchin, Fernanda S Medeiros, Luciana Giugliani, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso Dos Santos, Márcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araujo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Maria Lucia Castro Moreira, Hector Quintero Montano, Guilherme Baldo, Roberto Giugliani
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network. American journal of medical genetics. Part A (2021)