Search Results - "Carla Graziadio"

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    Congenital glucose-galactose malabsorption: A case report about cause and consequence, not exactly in this order by Mergener, Rafaella, Nunes, Marcela Rodrigues, Nascimento, Lívia Polisseni Cotta, Muniz, Victória Feitosa, Graziadio, Carla, Zen, Paulo Ricardo Gazzola

    Published in Global pediatrics (01-09-2024)
    “…Congenital glucose-galactose malabsorption (CGGM) is a rare metabolic disorder caused by a deficient intestinal sodium-dependent glucose cotransporter (SGLT1)…”
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    Journal Article
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    Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome by Bueno, Ana Laura Andrade, de Souza, Maria Emilia Vieira, Graziadio, Carla, Kiszewski, Ana Elisa

    Published in Anais brasileiros de dermatología (01-09-2020)
    “…Pilomatricomas are benign tumors originating from the capillary matrix, which may present as solitary lesions or, less commonly, multiple. Myotonic dystrophy…”
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    45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study by 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)
    “…45,X/46,XY mosaicism, or mixed gonadal dysgenesis, is considered to be a rare disorder of sex development. The aim of our study was to investigate the clinical…”
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    Journal Article
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    Trisomy 18 and Neural Tube Defects by 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)
    “…Abstract Background Trisomy 18 or Edwards syndrome is a chromosomal abnormality characterized by a broad clinical picture and a limited survival. More than 130…”
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    Trisomy 18: Experience of a reference hospital from the south of Brazil by Rosa, Rafael F.M., Rosa, Rosana C.M., Lorenzen, Marina B., de Moraes, Felipe N., Graziadio, Carla, Zen, Paulo R.G., Paskulin, Giorgio A.

    “…Trisomy 18 is a chromosomal syndrome characterized by a broad clinical picture, as well as a very reserved prognosis. The aim of our study was to verify the…”
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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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    Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report by Rosa, Rafael Fabiano Machado, Enk, Flávia, Camargo, Korine, Travi, Giovanni Marco, Freitas, André, Rosa, Rosana Cardoso Manique, Graziadio, Carla, Mattos, Vinicius Freitas de, Zen, Paulo Ricardo Gazzola

    Published in São Paulo medical journal (01-07-2015)
    “…The autosomal recessive form of microcephaly-chorioretinopathy syndrome is a rare genetic condition that is considered to be an important differential…”
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    Combined chemotherapy and teratogenicity by Paskulin, Giorgio Adriano, Gazzola Zen, Paulo Ricardo, de Camargo Pinto, Louise Lapagesse, Rosa, Rafael, Graziadio, Carla

    “…BACKGROUND The concomitant occurrence of breast cancer and pregnancy is relatively uncommon. We report the case of a patient with syndactyly, cleft hands, and…”
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    Type 1 diabetes in a patient with Ellis-van Creveld syndrome by Graziadio, Carla, Bernardi, Pricila, Rosa, Rafael Fabiano Machado, Zen, Paulo Ricardo Gazzola, Paskulin, Giorgio Adriano

    Published in São Paulo medical journal (2012)
    “…Ellis-van Creveld (EVC) syndrome is a rare autosomal recessive disease characterized by disproportionate short stature, narrow thorax, postaxial polydactyly,…”
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    New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival by Zen, Paulo Ricardo Gazzola, Rosa, Rafael Fabiano Machado, Rosa, Rosana Cardoso Manique, Graziadio, Carla, Paskulin, Giorgio Adriano

    Published in São Paulo medical journal (01-12-2011)
    “…Mosaic trisomy 9 is considered to be a rare chromosomal abnormality with limited survival. Our objective was to report on two patients with mosaic trisomy 9…”
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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

    Published in Revista Paulista de Pediatria (01-09-2013)
    “…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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    Fibular dimelia and mirror polydactyly of the foot in a girl presenting additional features of the VACTERL association by Bernardi, Pricila, Graziadio, Carla, Rosa, Rafael Fabiano Machado, Pfeil, Juliana Nunes, Zen, Paulo Ricardo Gazzola, Paskulin, Giorgio Adriano

    Published in São Paulo medical journal (2010)
    “…The association between fibular dimelia and mirror polydactyly of the foot is considered to be a very rare lower-limb abnormality. On the other hand, VACTERL…”
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