Chromosome painting in three-toed sloths: a cytogenetic signature and ancestral karyotype for Xenarthra

por Azevedo, Nathália F, Svartman, Marta, Manchester, Andrea, de Moraes-Barros, Nádia, Stanyon, Roscoe, Vianna-Morgante, Angela M
Publicado 2012

The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dyspl...

por Fonseca, Ana Carolina S, Bonaldi, Adriano, Bertola, Débora R, Kim, Chong A, Otto, Paulo A, Vianna-Morgante, Angela M
Publicado 2013

Simple, Rapid and Inexpensive Quantitative Fluorescent PCR Method for Detection of Microdeletion and Microduplication Syndromes

por Stofanko, Martin, Gonçalves-Dornelas, Higgor, Cunha, Pricila Silva, Pena, Heloísa B., Vianna-Morgante, Angela M., Pena, Sérgio Danilo Junho
Publicado 2013

The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation

por Fonseca, Ana Carolina S., Bonaldi, Adriano, Fonseca, Simone A. S., Otto, Paulo A., Kok, Fernando, Bak, Mads, Tommerup, Niels, Vianna-Morgante, Angela M.
Publicado 2015

Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization

por Linhares, Natália D., Valadares, Eugênia R., da Costa, Silvia S., Arantes, Rodrigo R., de Oliveira, Luiz Roberto, Rosenberg, Carla, Vianna-Morgante, Angela M., Svartman, Marta
Publicado 2016

Dementia in Fragile X-associated Tremor/Ataxia Syndrome

por Nitrini, Ricardo, Gonçalves, Márcia Rúbia R., Capelli, Leonardo P., Barbosa, Egberto Reis, Porto, Cláudia Sellitto, Amaro, Edson, Otto, Paulo Alberto, Vianna-Morgante, Angela M.
Publicado 2010

KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability

por Malvezzi, João VM, H Magalhaes, Ingrid, S Costa, Silvia, Otto, Paulo A, Rosenberg, Carla, Bertola, Debora R, LM Fernandes, Walter, Vianna-Morgante, Angela M, Krepischi, Ana CV
Publicado 2018

Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles

por Nolin, Sarah L., Glicksman, Anne, Tortora, Nicole, Allen, Emily, Macpherson, James, Mila, Montserrat, Vianna‐Morgante, Angela M., Sherman, Stephanie L., Dobkin, Carl, Latham, Gary J., Hadd, Andrew G.
Publicado 2019

Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases

por Carneiro, Thaise NR, Krepischi, Ana CV, Costa, Silvia S, Tojal da Silva, Israel, Vianna-Morgante, Angela M, Valieris, Renan, Ezquina, Suzana AM, Bertola, Debora R, Otto, Paulo A, Rosenberg, Carla
Publicado 2018

Germline DNA copy number variation in familial and early-onset breast cancer

por Krepischi, Ana CV, Achatz, Maria Isabel W, Santos, Erika MM, Costa, Silvia S, Lisboa, Bianca CG, Brentani, Helena, Santos, Tiago M, Gonçalves, Amanda, Nóbrega, Amanda F, Pearson, Peter L, Vianna-Morgante, Angela M, Carraro, Dirce M, Brentani, Ricardo R, Rosenberg, Carla
Publicado 2012

Mutations, Clinical Findings and Survival Estimates in South American Patients with X-Linked Adrenoleukodystrophy

por Pereira, Fernanda dos Santos, Matte, Ursula, Habekost, Clarissa Troller, de Castilhos, Raphael Machado, El Husny, Antonette Souto, Lourenço, Charles Marques, Vianna-Morgante, Angela M., Giuliani, Liane, Galera, Marcial Francis, Honjo, Rachel, Kim, Chong Ae, Politei, Juan, Vargas, Carmen Regla, Jardim, Laura Bannach
Publicado 2012

Copy Number Alterations in Hepatoblastoma: Literature Review and a Brazilian Cohort Analysis Highlight New Biological Pathways

por Barros, Juliana Sobral, Aguiar, Talita Ferreira Marques, Costa, Silvia Souza, Rivas, Maria Prates, Cypriano, Monica, Toledo, Silvia Regina Caminada, Novak, Estela Maria, Odone, Vicente, Cristofani, Lilian Maria, Carraro, Dirce Maria, Werneck da Cunha, Isabela, Costa, Cecília Maria Lima, Vianna-Morgante, Angela M., Rosenberg, Carla, Krepischi, Ana Cristina Victorino
Publicado 2021

Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil

por Krepischi, Ana C. V., Villela, Darine, da Costa, Silvia Souza, Mazzonetto, Patricia C., Schauren, Juliana, Migliavacca, Michele P., Milanezi, Fernanda, Santos, Juliana G., Guida, Gustavo, Guarischi-Sousa, Rodrigo, Campana, Gustavo, Kok, Fernando, Schlesinger, David, Kitajima, Joao Paulo, Campagnari, Francine, Bertola, Debora R., Vianna-Morgante, Angela M., Pearson, Peter L., Rosenberg, Carla
Publicado 2022