Premature Ovarian Failure Is Associated with Maternally and Paternally Inherited Premutation in Brazilian Families with Fragile X

door Vianna-Morgante, Angela M., Costa, Silvia S.
Gepubliceerd in 2000

Tetrasomy 18p: tentative delineation of a syndrome

door Batista, Denise A S, Vianna-Morgante, Angela M, Richieri-Costa, A
Gepubliceerd in 1983

Presumptive Mosaic Partial Trisomy Associated with Congenital Anomalies and Mental Deficiency

door Vianna-Morgante, Angela M., Domingues, Wanderley M., Ortega, Claudio C., Kasahara, Sanae
Gepubliceerd in 1974

Turner's syndrome and 46,X,i(Yq) karyotype

door Magnelli, Norma C., Vianna-Morgante, Angela M., Frota-Pessoa, O., Taboada-Lopez, Manuel Gonzalo
Gepubliceerd in 1974

UBE2A, Which Encodes a Ubiquitin-Conjugating Enzyme, Is Mutated in a Novel X-Linked Mental Retardation Syndrome

door Nascimento, Rafaella M. P., Otto, Paulo A., de Brouwer, Arjan P. M., Vianna-Morgante, Angela M.
Gepubliceerd in 2006

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

door Azevedo, Nathália F, Svartman, Marta, Manchester, Andrea, de Moraes-Barros, Nádia, Stanyon, Roscoe, Vianna-Morgante, Angela M
Gepubliceerd in 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...

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

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

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

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

door Fonseca, Ana Carolina S., Bonaldi, Adriano, Fonseca, Simone A. S., Otto, Paulo A., Kok, Fernando, Bak, Mads, Tommerup, Niels, Vianna-Morgante, Angela M.
Gepubliceerd in Mol Cytogenet (2015)

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

door 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
Gepubliceerd in Meta Gene (2016)

Dementia in Fragile X-associated Tremor/Ataxia Syndrome

door Nitrini, Ricardo, Gonçalves, Márcia Rúbia R., Capelli, Leonardo P., Barbosa, Egberto Reis, Porto, Cláudia Sellitto, Amaro, Edson, Otto, Paulo Alberto, Vianna-Morgante, Angela M.
Gepubliceerd in Dement Neuropsychol (2010)

KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability

door 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
Gepubliceerd in Hum Genome Var (2018)

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

door 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.
Gepubliceerd in Am J Med Genet A (2019)

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

door 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
Gepubliceerd in Appl Clin Genet (2018)

Molecular and clinical delineation of the 17q22 microdeletion phenotype

door Laurell, Tobias, Lundin, Johanna, Anderlid, Britt-Marie, Gorski, Jerome L, Grigelioniene, Giedre, Knight, Samantha J L, Krepischi, Ana C V, Nordenskjöld, Agneta, Price, Susan M, Rosenberg, Carla, Turnpenny, Peter D, Vianna-Morgante, Angela M, Nordgren, Ann
Gepubliceerd in 2013

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

door 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
Gepubliceerd in 2012

Regulatory variants of FOXG1 in the context of its topological domain organisation

door Mehrjouy, Mana M, Fonseca, Ana Carolina S., Ehmke, Nadja, Paskulin, Giorgio, Novelli, Antonio, Benedicenti, Francesco, Mencarelli, Maria Antonietta, Renieri, Alessandra, Busa, Tiffany, Missirian, Chantal, Hansen, Claus, Abe, Kikue Terada, Speck-Martins, Carlos Eduardo, Vianna-Morgante, Angela M., Bak, Mads, Tommerup, Niels
Gepubliceerd in Eur J Hum Genet (2017)

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

door 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
Gepubliceerd in 2012

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair

door 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
Gepubliceerd in 2008

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

door Carvalho, Claudia M.B., Zhang, Feng, Liu, Pengfei, Patel, Ankita, Sahoo, Trilochan, Bacino, Carlos A., Shaw, Chad, Peacock, Sandra, Pursley, Amber, Tavyev, Y. Jane, Ramocki, Melissa B., Nawara, Magdalena, Obersztyn, Ewa, Vianna-Morgante, Angela M., Stankiewicz, Pawel, Zoghbi, Huda Y., Cheung, Sau Wai, Lupski, James R.
Gepubliceerd in 2009