Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins
Jehee, Fernanda S., de Oliveira, Valdirene T., Gurgel‐Giannetti, Juliana, Pietra, Rafaella X., Rubatino, Fernando V. M., Carobin, Natália V., Vianna, Gabrielle S., de Freitas, Mariana L., Fernandes, Karla S., Ribeiro, Beatriz S. V., Brüggenwirth, Hennie T., Ali‐Amin, Roza, White, Janson J., Akdemir, Zeynep C., Jhangiani, Shalini N., Gibbs, Richard A., Lupski, James R., Varela, Monica C., Koiffmann, Célia, Rosenberg, Carla, Carvalho, Cláudia M. B.
Published in American journal of medical genetics. Part A (01.09.2017)
Published in American journal of medical genetics. Part A (01.09.2017)
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Journal Article
Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test
Monteiro, Rejane A.C., de Freitas, Mariana L., Vianna, Gabrielle S., de Oliveira, Valdirene T., Pietra, Rafaella X., Ferreira, Luana C.A., Rocha, Patrícia P.O., da S. Gonçalves, Michele, da C. César, Giovana, de S. Lima, Joziele, Medeiros, Paula F.V., Mazzeu, Juliana F., Jehee, Fernanda S.
Published in Molecular syndromology (01.08.2017)
Published in Molecular syndromology (01.08.2017)
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Identifying CNVs in 15q11q13 and 16p11.2 of Patients with Seizures Increases the Rates of Detecting Pathogenic Changes
Vianna, Gabrielle S., Freitas, Mariana L., de Oliveira, Valdirene T., Pietra, Rafaella X., da S. Gonçalves, Michele, Rocha, Patrícia P.O., Monteiro, Rejane A.C., Ferreira, Luana C.A., Xavier, Rosana R., Carvalho, Andréia M., de M. Lima, Patrícia R., Monteiro, Maria Augusta N.P., Mateo, Elvis C., Giannetti, Juliana G., da C. César, Giovana, de S. Lima, Joziele, Medeiros, Paula F.V., Jehee, Fernanda S.
Published in Molecular syndromology (01.11.2016)
Published in Molecular syndromology (01.11.2016)
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