RYK Is Not Mutated in Autosomal Dominant Robinow Syndrome

Por Mazzeu, Juliana F.
Publicado em 2013

A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family

Por Uehara, Daniela T, Freitas, Érika L, Alves, Leandro U, Mazzeu, Juliana F, Auricchio, Maria TBM, Tabith, Alfredo, Monteiro, Mário LR, Rosenberg, Carla, Mingroni-Netto, Regina C
Publicado no Hum Genome Var (2015)

Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test

Por 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.
Publicado no Mol Syndromol (2017)

WNT5A Mutations in Patients with Autosomal Dominant Robinow Syndrome

Por Person, Anthony D., Beiraghi, Soraya, Sieben, Christine M., Hermanson, Spencer, Neumann, Ann N., Robu, Mara E., Schleiffarth, J. Robert, Billington, Charles J., van Bokhoven, Hans, Hoogeboom, J., Mazzeu, Juliana F., Petryk, Anna, Schimmenti, Lisa A., Brunner, Han G., Ekker, Stephen C., Lohr, Jamie L.
Publicado em 2010

DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome

Por White, Janson J., Mazzeu, Juliana F., Hoischen, Alexander, Bayram, Yavuz, Withers, Marjorie, Gezdirici, Alper, Kimonis, Virginia, Steehouwer, Marloes, Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., van Bon, Bregje W.M., Sutton, V. Reid, Lupski, James R., Brunner, Han G., Carvalho, Claudia M.B.
Publicado no Am J Hum Genet (2016)

Partial 1q Duplications and Associated Phenotype

Por Morris, Marcos L.M., Baroneza, José E., Teixeira, Patricia, Medina, Cristina T.N., Cordoba, Mara S., Versiani, Beatriz R., Roese, Liege L., Freitas, Erika L., Fonseca, Ana C.S., dos Santos, Maria C.G., Pic-Taylor, Aline, Rosenberg, Carla, Oliveira, Silviene F., Ferrari, Iris, Mazzeu, Juliana F.
Publicado no Mol Syndromol (2016)

DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome

Por White, Janson, Mazzeu, Juliana F., Hoischen, Alexander, Jhangiani, Shalini N., Gambin, Tomasz, Alcino, Michele Calijorne, Penney, Samantha, Saraiva, Jorge M., Hove, Hanne, Skovby, Flemming, Kayserili, Hülya, Estrella, Elicia, Vulto-van Silfhout, Anneke T., Steehouwer, Marloes, Muzny, Donna M., Sutton, V. Reid, Gibbs, Richard A., Lupski, James R., Brunner, Han G., van Bon, Bregje W.M., Carvalho, Claudia M.B.
Publicado no Am J Hum Genet (2015)

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

Por 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.
Publicado no Am J Hum Genet (2018)