Mariluce Riegel (Mariluce Riegel-Giugliani)

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 14

Top Topics

Autism Spectrum Disorder

Intellectual Disability

Dna Methylation

Network Analysis

Top Venues

Genetics and molecular biology

Case reports in genetics

American journal of medical genetics. Part A

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

Publications

Patricia C Mazzonetto, Darine Villela, Ana C V Krepischi, Paulo M Pierry, Adriano Bonaldi, Luiz Gustavo D Almeida, Marcelo G Paula, Matheus Carvalho Bürger, Ana Gabriela de Oliveira, Gustavo G G Fonseca, Roberto Giugliani, Mariluce Riegel, Débora Bertola, Guilherme Lopes Yamamoto, Maria Rita Passos-Bueno, Gabriele da Silva Campos, Ana Claudia Dantas Machado, Juliana Forte Mazzeu, Eduardo Perrone, Roseli M Zechi-Ceide, Nancy Mizue Kokitsu-Nakata, Társis Antonio Paiva Vieira, Carlos Eduardo Steiner, Vera Lúcia Gil-da-Silva-Lopes, Daniela Koeller Rodrigues Vieira, Raquel Boy, João Monteiro de Pina-Neto, Cristovam Scapulatempo-Neto, Fernanda Milanezi, Carla Rosenberg
Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries. American journal of medical genetics. Part A (2024)
Rafaella Mergener, Marcela Rodrigues Nunes, Ana Kalise Böttcher da Silveira, Monique Banik Siqueira, Helena Froener Peruzzo, Milene Carvalho Merola, Mariluce Riegel, Paulo Ricardo Gazzola Zen
invdup(8)(8q24.13q24.3)-A Complex Alteration and Its Clinical Consequences. Genes 15 (7) (2024)
Rafaella Mergener, Marcela Rodrigues Nunes, Ana Kalise Böttcher da Silveira, Monique Banik Siqueira, Helena Froener Peruzzo, Milene Carvalho Merola, Mariluce Riegel, Paulo Ricardo Gazzola Zen
invdup(8)(8q24.13q24.3)-A Complex Alteration and Its Clinical Consequences. Genes 15 (7) (2024)
Rafaella Mergener, Marcela Rodrigues Nunes, Ana Kalise Böttcher da Silveira, Monique Banik Siqueira, Helena Froener Peruzzo, Milene Carvalho Merola, Mariluce Riegel, Paulo Ricardo Gazzola Zen
invdup(8)(8q24.13q24.3)-A Complex Alteration and Its Clinical Consequences. Genes 15 (7) (2024)
Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, Mariluce Riegel, Carolina Fischinger Moura de Souza, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso Dos Santos, Marcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araújo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Filippo Pinto E Vairo, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar
Disease progression in Sanfilippo type B: Case series of Brazilian patients. Genetics and molecular biology 47 (1) (2024)
Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, Mariluce Riegel, Carolina Fischinger Moura de Souza, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso Dos Santos, Marcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araújo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Filippo Pinto E Vairo, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar
Disease progression in Sanfilippo type B: Case series of Brazilian patients. Genetics and molecular biology 47 (1) (2024)
Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, Mariluce Riegel, Carolina Fischinger Moura de Souza, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso Dos Santos, Marcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araújo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Filippo Pinto E Vairo, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar
Disease progression in Sanfilippo type B: Case series of Brazilian patients. Genetics and molecular biology 47 (1) (2024)
Thiago Corrêa, Cíntia B Santos-Rebouças, Maytza Mayndra, Albert Schinzel, Mariluce Riegel
Shared Neurodevelopmental Perturbations Can Lead to Intellectual Disability in Individuals with Distinct Rare Chromosome Duplications. Genes 12 (5) (2021)
Thiago Corrêa, Bruno César Feltes, Albert Schinzel, Mariluce Riegel
Network-based analysis using chromosomal microdeletion syndromes as a model. American journal of medical genetics. Part C, Seminars in medical genetics 187 (3) (2021)
Thiago Corrêa, Amanda Cristina Venâncio, Marcial Francis Galera, Mariluce Riegel
Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20. Case reports in genetics 2020 (2020)
Thiago Corrêa, Bruno César Feltes, Mariluce Riegel
Integrated analysis of the critical region 5p15.3-p15.2 associated with cri-du-chat syndrome. Genetics and molecular biology 42 (1 suppl 1) (2019)
Cristian Petter, Lilia Maria Azevedo Moreira, Mariluce Riegel
Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome. Case reports in genetics 2019 (2019)
Taiane Alves Vieira, Franciele Barbosa Trapp, Carolina Fischinger Moura de Souza, Lavínia Schuler Faccini, Laura Bannach Jardim, Ida Vanessa Doederlein Schwartz, Mariluce Riegel, Carmen Regla Vargas, Maira Graeff Burin, Sandra Leistner-Segal, Patricia Ashton-Prolla, Roberto Giugliani
Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases. Genetics and molecular biology 42 (1 suppl 1) (2019)
Thiago Corrêa, Rafaella Mergener, Júlio César Loguercio Leite, Marcial Francis Galera, Lilia Maria de Azevedo Moreira, Jose Eduardo Vargas, Mariluce Riegel
Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome. BioMed research international 2018 (2018)