Search Results - "Zen, Paulo Ricardo G."

Congenital heart disease and chromossomopathies detected by the karyotype by Trevisan, Patrícia, Rosa, Rafael Fabiano M, Koshiyama, Dayane Bohn, Zen, Tatiana Diehl, Paskulin, Giorgio Adriano, Zen, Paulo Ricardo G

“…To review the relationship between congenital heart defects and chromosomal abnormalities detected by the karyotype. Scientific articles were searched in…”
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Unroofed coronary sinus in a patient with neurofibromatosis type 1 by Bender, Luciano Pereira, Meyer, Maria Rita F, Rosa, Rafael Fabiano M, Rosa, Rosana Cardoso M, Trevisan, Patrícia, Zen, Paulo Ricardo G

“…To report the uncommon association between neurofibromatosis type 1 (NF1) and unroofed coronary sinus. Girl with four years and six months old who was…”
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Craniofacial abnormalities among patients with Edwards Syndrome by Rosa, Rafael Fabiano M, Rosa, Rosana Cardoso M, Lorenzen, Marina Boff, Zen, Paulo Ricardo G, Graziadio, Carla, Paskulin, Giorgio Adriano

“…OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES). METHODS This…”
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Gestational, perinatal and family findings of patients with Patau syndrome by Rosa, Rafael Fabiano M, Sarmento, Melina Vaz, Polli, Janaina Borges, Groff, Daniela de Paoli, Petry, Patrícia, Mattos, Vinícius Freitas de, Rosa, Rosana Cardoso M, Trevisan, Patrícia, Zen, Paulo Ricardo G

“…To describe gestational, perinatal and family findings of patients with Patau syndrome (PS). The study enrolled patients with PS consecutively evaluated during…”
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Imperfect twinning: a clinical and ethical dilemma by Denardin, Daniela, Telles, Jorge Alberto B, Betat, Rosilene da Silveira, Fell, Paulo Renato K, Cunha, André Campos da, Targa, Luciano Vieira, Zen, Paulo Ricardo G, Rosa, Rafael Fabiano M

“…OBJECTIVE To review the history, epidemiology, etiology, gestational aspects, diagnosis and prognosis of imperfect twinning. DATA SOURCES Scientific articles…”
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The role of cytogenetics and molecular biology in the diagnosis, treatment and monitoring of patients with chronic myeloid leukemia by Dorfman, Luiza Emy, Floriani, Maiara A., Oliveira, Tyana Mara R. D. R., Cunegatto, Bibiana, Rosa, Rafael Fabiano M., Zen, Paulo Ricardo G.

“…ABSTRACT Chronic myeloid leukemia (CML) is the most common myeloproliferative disorder among chronic neoplasms. The history of this disease joins with the…”
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Fetal anencephaly with umbilical cord attached to cerebrovasculosa area: autopsy report by Altmayer, Stephan Philip L., Barrow, McArthur Alex, Floriani, Maiara A., Nagata, Glauco K., Zanon, Matheus, Cunha, André C., Fell, Paulo Renato Krahl, Dietrich, Cristine, Zen, Paulo Ricardo G., Rosa, Rafael Fabiano M.

“…ABSTRACT Our aim was to report the unusual case of an anencephalic fetus that was born with the umbilical cord attached to its cephalic pole. The patient was a…”
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Description of clinical aspects and microscopy of the hair shaft of a carrier of familial monilethrix by Ferreira, Maria Angélica T., Gonzales, João Francisco O., Diniz, Bruna L., Floriani, Maiara A., Bau, Ana Elisa K., Rosa, Rosana C. M., Rosa, Rafael Fabiano M., Zen, Paulo Ricardo G.

“…ABSTRACT Monilethrix is a genetic condition that affects the hair shaft. We describe a family with this disease, focusing on its clinical aspects and…”
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Increased levels of chitotriosidase in a patient with Alagille syndrome: association or coincidence? by Diniz, Bruna L., Floriani, Maiara A., Ferreira, Maria Angélica T., Gonzales, João Francisco O., Lisboa, Nathan H., Jakimiu, André Ricardo, Ferreira, Janaina Yacy H., Rosa, Rafael Fabiano M., Zen, Paulo Ricardo G.

“…ABSTRACT We describe a case of a patient with Alagille syndrome (AS) presenting an increased level of the enzyme chitotriosidase (ChT), evaluating factors that…”
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Autopsy findings of a child with left atrial isomerism associated with pulmonary agenesis by Pereira, Camilla M. V., Cruz, Larissa V., Girotto, Marina C., Cunha, André C., Telles, Jorge Alberto B., Diniz, Bruna L., Rosa, Rosana C. M., Zen, Paulo Ricardo G., Rosa, Rafael Fabiano M.

“…ABSTRACT Isomerism is a rare laterality defect. Our aim was to describe the autopsy findings of a child with left atrial isomerism (LAI) and pulmonary agenesis…”
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Evaluation of the fetal urine sample through vesicocentesis: an approach to diagnostic and therapeutic application by Santos, Andressa S., Bassani, Naiane C., Floriani, Maiara A., Fell, Paulo Renato Krahl, Dietrich, Cristine, Rosa, Ernani B., Correia, Jamile D., Zen, Paulo Ricardo G., Rosa, Rafael Fabiano M.

“…ABSTRACT We report the case of a fetus with mega-bladder and suspected lower urinary tract obstruction (LUTO). The 20-week pregnancy ultrasound scan showed…”
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Report of a patient with fragile X syndrome unexpectedly identified by karyotype analysis by Floriani, Maiara A., Boas, Marcelo R. Vilas, Rosa, Rafael Fabiano M., Trevisan, Patrícia, Dorfman, Luiza Emy, Rosa, Rosana C. M., Zen, Tatiana D., Zen, Paulo Ricardo G.

“…ABSTRACT Fragile X syndrome is considered the main known cause of inherited learning disabilities and it is characterized by mutations in the FMR1 gene. Our…”
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Applications of electron microscopy in health: the example of epidermolysis bullosa by Floriani, Maiara A., Bau, Ana Elisa K., Silva, Raquel P., Graziadio, Carla, Dorfman, Luiza Emy, Zen, Tatiana D., Rosa, Rafael Fabiano M., Zen, Paulo Ricardo G.

“…ABSTRACT We report the case of a patient with dystrophic epidermolysis bullosa (DEB) diagnosed by transmission electron microscopy (TEM), emphasizing the…”
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Use of the fluid obtained by puncture of cystic hygroma: an alternative method for fetal karyotyping by Floriani, Maiara A., Dorfman, Luiza E., Koshiyama, Dayane B., Zen, Tatiana D., Telles, Jorge Alberto B., Cunha, André C., Zen, Paulo Ricardo G., Rosa, Rafael Fabiano M.

“…ABSTRACT The aim of our study aim was to report the case of a fetus with Turner syndrome (TS) diagnosed by karyotype from cystic hygroma (CH) fluid,…”
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Cardiopatias congênitas e malformações extracardíacas by Rosana Cardoso M. Rosa, Rafael Fabiano M. Rosa, Paulo Ricardo G. Zen, Giorgio Adriano Paskulin

“…OBJETIVO: Revisar a associação entre cardiopatias congênitas e malformações extracardíacas. FONTES DE DADOS: A pesquisa incluiu artigos científicos presentes…”
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Cardiopatias congênitas e malformações extracardíacas by Rosa, Rosana Cardoso M., Rosa, Rafael Fabiano M., Zen, Paulo Ricardo G., Paskulin, Giorgio Adriano

“…OBJETIVO: Revisar a associação entre cardiopatias congênitas e malformações extracardíacas. FONTES DE DADOS: A pesquisa incluiu artigos científicos presentes…”
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Development and validation of homebrew FISH Probes for 22q11.2 deletion syndrome by Dorfman, Luiza Emy, Trevisan, Patrícia, Paskulin, Diego A., Floriani, Maiara A., Scherner, Luiza Carolina R., Bassani, Naiane C., Santos, Andressa S., Rosa, Rafael F. M., Zen, Paulo Ricardo G.

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Trissomia 18: revisão dos aspectos clínicos, etiológicos, prognósticos e éticos by Rosa, Rafael Fabiano M., Rosa, Rosana Cardoso M., Zen, Paulo Ricardo G., Graziadio, Carla, Paskulin, Giorgio Adriano

“…OBJETIVO: Revisar as características clínicas, etiológicas, diagnósticas e prognósticas da trissomia do cromossomo 18 (síndrome de Edwards). FONTES DE DADOS:…”
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Síndrome de deleção 22q11.2 e cardiopatias congênitas by Rosa, Rafael Fabiano M., Zen, Paulo Ricardo G., Graziadio, Carla, Paskulin, Giorgio Adriano

“…OBJETIVO: Revisar as características clínicas, etiológicas e diagnósticas da síndrome de deleção 22q11 e sua associação com as cardiopatias congênitas. FONTES…”
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Importância da análise cromossômica dos fibroblastos em casos suspeitos de mosaicismo: experiência de um serviço de Genética Clínica by Paskulin, Giorgio Adriano, Lorenzen, Marina Boff, Rosa, Rafael Fabiano M., Graziadio, Carla, Zen, Paulo Ricardo G.

“…OBJETIVOS: Verificar características clínicas e achados citogenéticos de pacientes com suspeita de mosaicismo submetidos à avaliação cromossômica por meio do…”
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