Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles
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.
Published in American journal of medical genetics. Part A (01.07.2019)
Published in American journal of medical genetics. Part A (01.07.2019)
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Mutations in the Intellectual Disability Gene Ube2a Cause Neuronal Dysfunction and Impair Parkin-Dependent Mitophagy
Haddad, Dominik M., Vilain, Sven, Vos, Melissa, Esposito, Giovanni, Matta, Samer, Kalscheuer, Vera M., Craessaerts, Katleen, Leyssen, Maarten, Nascimento, Rafaella M.P., Vianna-Morgante, Angela M., De Strooper, Bart, Van Esch, Hilde, Morais, Vanessa A., Verstreken, Patrik
Published in Molecular cell (27.06.2013)
Published in Molecular cell (27.06.2013)
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FMR1 premutation in children with autism spectrum disorders: Should additional diagnostic tests be performed?
Girardi, Ana Cristina De Sanctis, Opstal Takahashi, Vanessa Naomi, Vadasz, Estevão, Costa, Claudia Ismania Samogi, Zachi, Elaine Cristina, Vianna‐Morgante, Angela M., Passos‐Bueno, Maria Rita
Published in American journal of medical genetics. Part A (01.04.2022)
Published in American journal of medical genetics. Part A (01.04.2022)
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Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing
Villela, Darine, Barros, Juliana Sobral, da Costa, Silvia Souza, Aguiar, Talita F. M., Campagnari, Francine, Vianna‐Morgante, Angela M., Krepischi, Ana C. V., Rosenberg, Carla
Published in Annals of human genetics (01.01.2021)
Published in Annals of human genetics (01.01.2021)
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Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses
Villela, Darine, Mazzonetto, Patricia C., Migliavacca, Michele P., Perrone, Eduardo, Guida, Gustavo, Milanezi, Maria Fernanda G., Jorge, Alexander A. L., Ribeiro‐Bicudo, Lucilene A., Kok, Fernando, Campagnari, Francine, Rosso‐Giuliani, Liane, Costa, Silvia Souza, Vianna‐Morgante, Angela M., Pearson, Peter L., Krepischi, Ana C. V., Rosenberg, Carla
Published in American journal of medical genetics. Part A (01.08.2021)
Published in American journal of medical genetics. Part A (01.08.2021)
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Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes
Carvalho, Claudia M.B., Vasanth, Shivakumar, Shinawi, Marwan, Russell, Chad, Ramocki, Melissa B., Brown, Chester W., Graakjaer, Jesper, Skytte, Anne-Bine, Vianna-Morgante, Angela M., Krepischi, Ana C.V., Patel, Gayle S., Immken, LaDonna, Aleck, Kyrieckos, Lim, Cynthia, Cheung, Sau Wai, Rosenberg, Carla, Katsanis, Nicholas, Lupski, James R.
Published in American journal of human genetics (06.11.2014)
Published in American journal of human genetics (06.11.2014)
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Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndrome
Bonaldi, Adriano, Mazzeu, Juliana F., Costa, Silvia S., Honjo, Rachel S., Bertola, Débora R., Albano, Lilian M.J., Furquim, Isabel M., Kim, Chong A., Vianna‐Morgante, Angela M.
Published in American journal of medical genetics. Part A (01.10.2011)
Published in American journal of medical genetics. Part A (01.10.2011)
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Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome
Mazzeu, Juliana Forte, Pardono, Eliete, Vianna-Morgante, Angela M., Richieri-Costa, Antônio, Ae Kim, Chong, Brunoni, Décio, Martelli, Lúcia, de Andrade, Carlos Eugênio F., Colin, Guilherme, Otto, Paulo A.
Published in American journal of medical genetics. Part A (15.02.2007)
Published in American journal of medical genetics. Part A (15.02.2007)
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Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation
Ullmann, Reinhard, Turner, Gillian, Kirchhoff, Maria, Chen, Wei, Tonge, Bruce, Rosenberg, Carla, Field, Michael, Vianna‐Morgante, Angela M., Christie, Louise, Krepischi‐Santos, Ana C., Banna, Lynn, Brereton, Avril V., Hill, Alyssa, Bisgaard, Anne‐Marie, Müller, Ines, Hultschig, Claus, Erdogan, Fikret, Wieczorek, Georg, Ropers, H. Hilger
Published in Human mutation (01.07.2007)
Published in Human mutation (01.07.2007)
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Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil
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
Published in Scientific reports (07.09.2022)
Published in Scientific reports (07.09.2022)
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Copy Number Alterations in Hepatoblastoma: Literature Review and a Brazilian Cohort Analysis Highlight New Biological Pathways
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
Published in Frontiers in oncology (08.12.2021)
Published in Frontiers in oncology (08.12.2021)
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Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair
Bauters, Marijke, Van Esch, Hilde, Friez, Michael J, Boespflug-Tanguy, Odile, Zenker, Martin, Vianna-Morgante, Angela M, Rosenberg, Carla, Ignatius, Jaakko, Raynaud, Martine, Hollanders, Karen, Govaerts, Karen, Vandenreijt, Kris, Niel, Florence, Blanc, Pierre, Stevenson, Roger E, Fryns, Jean-Pierre, Marynen, Peter, Schwartz, Charles E, Froyen, Guy
Published in Genome Research (01.06.2008)
Published in Genome Research (01.06.2008)
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Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy
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
Published in PloS one (29.03.2012)
Published in PloS one (29.03.2012)
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Simple, rapid and inexpensive quantitative fluorescent PCR method for detection of microdeletion and microduplication syndromes
Stofanko, Martin, Gonçalves-Dornelas, Higgor, Cunha, Pricila Silva, Pena, Heloísa B, Vianna-Morgante, Angela M, Pena, Sérgio Danilo Junho
Published in PloS one (19.04.2013)
Published in PloS one (19.04.2013)
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Crotamine is a novel cell-penetrating protein from the venom of rattlesnake Crotalus durissus terrificus
Kerkis, Alexandre, Kerkis, Irina, Rádis-Baptista, Gandhi, Oliveira, Eduardo B, Vianna-Morgante, Angela M, Pereira, Lygia V, Yamane, Tetsuo
Published in The FASEB journal (01.09.2004)
Published in The FASEB journal (01.09.2004)
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A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation
Krepischi, Ana Cristina V., Rosenberg, Carla, Costa, Silvia S., Crolla, John A., Huang, Shuwen, Vianna-Morgante, Angela M.
Published in American journal of medical genetics. Part A (01.09.2010)
Published in American journal of medical genetics. Part A (01.09.2010)
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KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability
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
Published in Human genome variation (29.03.2018)
Published in Human genome variation (29.03.2018)
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Chromosome painting in three-toed sloths: a cytogenetic signature and ancestral karyotype for Xenarthra
Azevedo, Nathália F, Svartman, Marta, Manchester, Andrea, de Moraes-Barros, Nádia, Stanyon, Roscoe, Vianna-Morgante, Angela M
Published in BMC evolutionary biology (19.03.2012)
Published in BMC evolutionary biology (19.03.2012)
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WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome
White, Janson J., Mazzeu, Juliana F., Coban-Akdemir, Zeynep, Bayram, Yavuz, Bahrambeigi, Vahid, Hoischen, Alexander, van Bon, Bregje W.M., Gezdirici, Alper, Gulec, Elif Yilmaz, Ramond, Francis, Touraine, Renaud, Thevenon, Julien, Shinawi, Marwan, Beaver, Erin, Heeley, Jennifer, Hoover-Fong, Julie, Durmaz, Ceren D., Karabulut, Halil Gurhan, Marzioglu-Ozdemir, Ebru, Cayir, Atilla, Duz, Mehmet B., Seven, Mehmet, Price, Susan, Ferreira, Barbara Merfort, Vianna-Morgante, Angela M., Ellard, Sian, Parrish, Andrew, Stals, Karen, Flores-Daboub, Josue, Jhangiani, Shalini N., Gibbs, Richard A., Brunner, Han G., Sutton, V. Reid, Lupski, James R., Carvalho, Claudia M.B.
Published in American journal of human genetics (04.01.2018)
Published in American journal of human genetics (04.01.2018)
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