45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study
Rosa, Rafael Fabiano Machado, D'Ecclesiis, Willy Francisco Bartel, Dibbi, Raquel Papandreus, Rosa, Rosana Cardoso Manique, Trevisan, Patrícia, Graziadio, Carla, Paskulin, Giorgio Adriano, Zen, Paulo Ricardo Gazzola
Published in São Paulo medical journal (01.12.2014)
Published in São Paulo medical journal (01.12.2014)
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Journal Article
Trisomy 18 and Neural Tube Defects
Rosa, Rafael Fabiano Machado, PhD, Trevisan, Patrícia, MD, Rosa, Rosana Cardoso Manique, MD, Lorenzen, Marina Boff, MD, Zen, Paulo Ricardo Gazzola, PhD, Oliveira, Ceres Andréia, MD, Graziadio, Carla, MD, Paskulin, Giorgio Adriano, PhD
Published in Pediatric neurology (01.09.2013)
Published in Pediatric neurology (01.09.2013)
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Journal Article
Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil
Petry, Patrícia, Polli, Janaina B., Mattos, Vinícius F., Rosa, Rosana C.M., Zen, Paulo R.G., Graziadio, Carla, Paskulin, Giorgio A., Rosa, Rafael F.M.
Published in American journal of medical genetics. Part A (01.06.2013)
Published in American journal of medical genetics. Part A (01.06.2013)
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Journal Article
Trisomy 13 (Patau syndrome) and congenital heart defects
Polli, Janaina B., de P. Groff, Daniela, Petry, Patrícia, Mattos, Vinícius F., Rosa, Rosana C. M., Zen, Paulo R. G., Graziadio, Carla, Paskulin, Giorgio A., Rosa, Rafael F. M.
Published in American journal of medical genetics. Part A (01.01.2014)
Published in American journal of medical genetics. Part A (01.01.2014)
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Journal Article
Gómez-López-Hernández Syndrome in a Child Born to Consanguineous Parents: New Evidence for an Autosomal-Recessive Pattern of Inheritance?
de Mattos, Vinicius Freitas, MD, Graziadio, Carla, MD, Machado Rosa, Rafael Fabiano, PhD, Lenhardt, Rene, MD, Alves, Ronnie Peterson Marcondes, MD, Trevisan, Patrícia, MPharm, Paskulin, Giorgio Adriano, PhD, Zen, Paulo Ricardo Gazzola, PhD
Published in Pediatric neurology (01.06.2014)
Published in Pediatric neurology (01.06.2014)
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Journal Article
Trisomy 18: Experience of a reference hospital from the south of Brazil
Rosa, Rafael F.M., Rosa, Rosana C.M., Lorenzen, Marina B., de Moraes, Felipe N., Graziadio, Carla, Zen, Paulo R.G., Paskulin, Giorgio A.
Published in American journal of medical genetics. Part A (01.07.2011)
Published in American journal of medical genetics. Part A (01.07.2011)
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Journal Article
Cytogenetic response to imatinib treatment in Southern Brazilian patients with chronic myelogenous leukemia and variant Philadelphia chromosome
Koshiyama, Dayane B., Capra, Marcelo E. Z., Paskulin, Giorgio A., Rosa, Rafael F. M., Oliveira, Ceres A. V., Vanelli, Tito, Fogliatto, Laura M., Zen, Paulo R. G.
Published in Annals of hematology (01.01.2013)
Published in Annals of hematology (01.01.2013)
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Journal Article
Two cases of polydactyly in wild brown howler monkeys (Alouatta guariba clamitans)
Silva, Moira Ansolch, Steinberg, Eliana R., Paskulin, Giorgio A., Teixeira, Fábio dos Santos, Jesus, Anamélia de Souza, Mudry, Marta D., Bicca‐Marques, Júlio César
Published in Journal of medical primatology (01.02.2016)
Published in Journal of medical primatology (01.02.2016)
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Journal Article
Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes
de Zwart-Storm, Eugene A., Rosa, Rafael F. M., Martin, Patricia E., Foelster-Holst, Regina, Frank, Jorge, Bau, Ana E. K., Zen, Paulo R. G., Graziadio, Carla, Paskulin, Giorgio A., Kamps, Miriam A., van Geel, Michel, van Steensel, Maurice A. M.
Published in Experimental dermatology (01.05.2011)
Published in Experimental dermatology (01.05.2011)
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Journal Article
Gestational and family risk factors for carriers of congenital heart defects in southern Brazil
Zen, Tatiana Diehl, Rosa, Rafael Fabiano Machado, Zen, Paulo Ricardo Gazzola, Trevisan, Patrícia, da Silva, Alessandra Pawelec, Ricachinevsky, Cláudia Pires, Paskulin, Giorgio Adriano
Published in Pediatrics international (01.08.2011)
Published in Pediatrics international (01.08.2011)
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Journal Article
Trisomy 18: Frequency, types, and prognosis of congenital heart defects in a Brazilian cohort
Rosa, Rafael F.M., Rosa, Rosana C.M., Lorenzen, Marina B., de Oliveira, Ceres A.V., Graziadio, Carla, Zen, Paulo R.G., Paskulin, Giorgio A.
Published in American journal of medical genetics. Part A (01.09.2012)
Published in American journal of medical genetics. Part A (01.09.2012)
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Journal Article
New report of a familial case of Moebius syndrome presenting skeletal findings
Graziadio, Carla, Lorenzen, Marina B., Rosa, Rafael F.M., Pinto, Louise L.C., Zen, Paulo R.G., Travi, Giovanni M., Valiatti, Fabiana, Paskulin, Giorgio A.
Published in American journal of medical genetics. Part A (01.08.2010)
Published in American journal of medical genetics. Part A (01.08.2010)
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Journal Article
Blepharophimosis‐ptosis‐epicanthus inversus syndrome
Graziadio, Carla, de Moraes, Felipe Nora, Rosa, Rafael Fabiano Machado, Zen, Paulo Ricardo Gazzola, Travi, Giovanni Marcos, Waldman, Carolina, Medina, Cristina Touguinha Neves, De Baere, Elfride, Paskulin, Giorgio Adriano
Published in Pediatrics international (01.06.2011)
Published in Pediatrics international (01.06.2011)
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Journal Article
Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex in a child with nail-patella syndrome
Gazzola Zen, Paulo Ricardo, Machado Rosa, Rafael Fabiano, Graziadio, Carla, Pawelec da Silva, Alessandra, Paskulin, Giorgio Adriano
Published in Pediatrics international (01.10.2010)
Published in Pediatrics international (01.10.2010)
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Journal Article
Inv dup del(4)(:p13 → p16.3::p16.3 → qter) in a girl without typical manifestations of Wolf–Hirschhorn syndrome
Paskulin, Giorgio A., Riegel, Mariluce, Cotter, Philip D., Kiss, Andrea, Rosa, Rafael F.M., Zen, Paulo R.G., Mombach, Rômulo, Graziadio, Carla
Published in American journal of medical genetics. Part A (01.06.2009)
Published in American journal of medical genetics. Part A (01.06.2009)
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Journal Article
Richieri-Costa and Pereira form of acrofacial dysostosis: First description of an adult with mesomelic shortness of the lower limbs
Graziadio, Carla, Rosa, Rafael F.M., Zen, Paulo R.G., Flores, José A.M., Paskulin, Giorgio A.
Published in American journal of medical genetics. Part A (01.12.2009)
Published in American journal of medical genetics. Part A (01.12.2009)
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Journal Article
A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): An illustrative case in the investigation of patients with low ARSA activity
Artigalás, Osvaldo, Paskulin, Giorgio, Riegel, Mariluce, Burin, Maira, Saraiva-Pereira, Maria Luiza, Maluf, Sharbel, Kiss, Andrea, Schwartz, Ida Vanessa D
Published in Genetics and molecular biology (01.01.2012)
Published in Genetics and molecular biology (01.01.2012)
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