22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening

por Sgardioli, Ilária C., Vieira, Társis P., Simioni, Milena, Monteiro, Fabíola P., Gil-da-Silva-Lopes, Vera L.
Publicado en J Pediatr Genet (2015)

A New Case of the Rare 10q22.3q23.2 Microdeletion Flanked by Low-Copy Repeats 3/4

por Coelho Molck, Miriam, Simioni, Milena, Paiva Vieira, Társis, Paoli Monteiro, Fabíola, Gil-da-Silva-Lopes, Vera L.
Publicado en Mol Syndromol (2017)

A Pure 2-Mb 3q26.2 Duplication Proximal to the Critical Region of 3q Duplication Syndrome

por Coelho Molck, Miriam, Simioni, Milena, Paiva Vieira, Társis, Paoli Monteiro, Fabíola, Gil-da-Silva-Lopes, Vera L.
Publicado en Mol Syndromol (2018)

Tetrasomy 3q26.32-q29 due to a supernumerary marker chromosome in a child with pigmentary mosaicism of Ito

por Cunha, Karina S., Simioni, Milena, Vieira, Tarsis P., Gil-da-Silva-Lopes, Vera L., Puzzi, Maria B., Steiner, Carlos E.
Publicado en Genet Mol Biol (2016)

Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes

por Simioni, Milena, Artiguenave, François, Meyer, Vincent, Sgardioli, Ilária C., Viguetti-Campos, Nilma L., Lopes Monlleó, Isabella, Maciel-Guerra, Andréa T., Steiner, Carlos E., Gil-da-Silva-Lopes, Vera L.
Publicado en Mol Syndromol (2017)

Genetic comparison of sickle cell anaemia cohorts from Brazil and the United States reveals high levels of divergence

por Cruz, Pedro R. S., Ananina, Galina, Gil-da-Silva-Lopes, Vera Lucia, Simioni, Milena, Menaa, Farid, Bezerra, Marcos A. C., Domingos, Igor F., Araújo, Aderson S., Pellegrino, Renata, Hakonarson, Hakon, Costa, Fernando F., de Melo, Mônica Barbosa
Publicado en Sci Rep (2019)

Copy number variation in the susceptibility to systemic lupus erythematosus

por Barbosa, Fernanda Bueno, Simioni, Milena, Wiezel, Cláudia Emília Vieira, Torres, Fábio Rossi, Molck, Miriam Coelho, Bonilla, Melvin M., de Araujo, Tânia Kawasaki, Donadi, Eduardo Antônio, Gil-da-Silva-Lopes, Vera Lúcia, Lemos, Bernardo, Simões, Aguinaldo Luiz
Publicado en PLoS One (2018)

Maternally Inherited Partial Monosomy 9p (pter → p24.1) and Partial Trisomy 20p (pter → p12.1) Characterized by Microarray Comparative Genomic Hybridization

por Freitas, Érika L., Gribble, Susan M., Simioni, Milena, Vieira, Társis P., Silva-Grecco, Roseane L., Balarin, Marly A. S., Prigmore, Elena, Krepischi-Santos, Ana C., Rosenberg, Carla, Szuhai, Karoly, van Haeringen, Arie, Carter, Nigel P., Gil-da-Silva-Lopes, Vera Lúcia
Publicado 2011

Preliminary Analysis of the Nonsynonymous Polymorphism rs17563 in BMP4 Gene in Brazilian Population Suggests Protection for Nonsyndromic Cleft Lip and Palate

por Araújo, Tânia Kawasaki, Simioni, Milena, Félix, Têmis Maria, de Souza, Liliane Todeschini, Fontes, Marshall Ítalo Barros, Monlleó, Isabella Lopes, Souza, Josiane, Fett-Conte, Agnes Cristina, Secolin, Rodrigo, Lopes-Cendes, Iscia, Maurer-Morelli, Cláudia Vianna, Gil-da-Silva-Lopes, Vera Lúcia
Publicado 2012