Search Results - "Gazzola Zen, Paulo Ricardo"

Clitoris cyst mimicking ambiguous genitalia and presenting spontaneous regression by Beltrão, Luciana Amorim, Correia, Elisa Pacheco Estima, da Rosa, Ernani Bohrer, Correia, Jamile Dutra, Kopacek, Cristiane, Faria, Adyr Eduardo Virmond, Rosa, Rosana Cardoso Manique, Zen, Paulo Ricardo Gazzola, Rosa, Rafael Fabiano Machado

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Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome by Deconte, Desirée, Diniz, Bruna Lixinski, Hartmann, Jéssica K, de Souza, Mateus A, Zottis, Laira F F, Zen, Paulo Ricardo Gazzola, Rosa, Rafael F M, Fiegenbaum, Marilu

“…variants have been associated with a wide range of ciliopathies, mainly Joubert syndrome (JS, OMIM #616490) and short-rib thoracic dysplasia syndrome (SRTD,…”
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Clinical and Molecular Characterization of Adult Glioblastomas in Southern Brazil by Trevisan, Patricia, Graziadio, Carla, Rodrigues, Dayane Bohn Koshiyama, Rosa, Rafael Fabiano Machado, Soares, Fabiano Pasqualotto, Provenzi, Valentina Oliveira, de Oliveira, Ceres Andréia Vieira, Paskulin, Giorgio Adriano, Varella-Garcia, Marileila, Zen, Paulo Ricardo Gazzola

“…Abstract We investigated 113 adult Brazilian patients with glioblastoma (GBM) for comparison with patients from distinct geographical areas and evaluation of…”
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Clinical and cytogenetic characteristics of patients diagnosed with Turner syndrome in a clinical genetics service: cross-sectional retrospective study by Nunes, Maurício Rouvel, Pereira, Tiago Godói, Correia, Henry Victor Dutra, Canabarro, Simone Travi, Vanz, Ana Paula, Zen, Paulo Ricardo Gazzola, Rosa, Rafael Fabiano Machado

“…BACKGROUNDTurner syndrome (TS) is a rare genetic disease. Understanding its clinical findings contributes to better management of clinical conditions…”
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Thoracoabdominal ectopia cordis with good outcome by Acco, Fernanda Scalco, Bortoli, Andressa Fiori, Capaverde, Vinícius de Borba, Zen, Paulo Ricardo Gazzola, Rosa, Rafael Fabiano Machado

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Gestational and family risk factors for carriers of congenital heart defects in southern Brazil by Zen, Tatiana Diehl, Rosa, Rafael Fabiano Machado, Zen, Paulo Ricardo Gazzola, Trevisan, Patrícia, da Silva, Alessandra Pawelec, Ricachinevsky, Cláudia Pires, Paskulin, Giorgio Adriano

“…Background:  Congenital heart disease (CHD) is a serious threat to public health. Despite this, its etiology is poorly understood and few cardiac teratogens…”
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Hearing characterization in oculoauriculovertebral spectrum: A prospective study with 10 patients by Goetze, Thayse Bienert, Sleifer, Pricila, Rosa, Rafael Fabiano Machado, da Silva, Alessandra Pawelec, Graziadio, Carla, Zen, Paulo Ricardo Gazzola

“…Oculoauriculovertebral spectrum (OAVS), also known as Goldenhar syndrome, is considered a condition associated to failing of embryogenesis involving the first…”
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Nursing diagnoses in Turner syndrome by Rouvel Nunes, Maurício, Travi Canabarro, Simone, Vanz, Ana Paula, Machado Rosa, Rafael Fabiano, Gazzola Zen, Paulo Ricardo

“…Turner's syndrome (TS) is a rare genetic disease and has an important impact on the health care of these patients. Although TS is not uncommon, there are still…”
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Ophthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2 by Deconte, Desirée, Kreusch, Tulia Cristina, Salvaro, Bruna Pavan, Perin, Wagner Fernando, Ferreira, Maria Angélica Tosi, Kopacek, Cristiane, da Rosa, Ernani Bohrer, Heringer, Jane Iândora, Ligabue-Braun, Rodrigo, Zen, Paulo Ricardo Gazzola, Rosa, Rafael Fabiano Machado, Fiegenbaum, Marilu

“…Abstract Kenny-Caffey syndrome (KCS) is a rare genetic condition characterized by growth retardation, bone abnormalities, and hypoparathyroidism. Herein, we…”
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Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex in a child with nail-patella syndrome by Gazzola Zen, Paulo Ricardo, Machado Rosa, Rafael Fabiano, Graziadio, Carla, Pawelec da Silva, Alessandra, Paskulin, Giorgio Adriano

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Incontinentia pigmenti by Poziomczyk, Cláudia Schermann, Recuero, Júlia Kanaan, Bringhenti, Luana, Maria, Fernanda Diffini Santa, Campos, Carolina Wiltgen, Travi, Giovanni Marcos, Freitas, André Moraes, Maahs, Marcia Angelica Peter, Zen, Paulo Ricardo Gazzola, Fiegenbaum, Marilu, Almeida, Sheila Tamanini de, Bonamigo, Renan Rangel, Bau, Ana Elisa Kiszewski

“…Incontinentia pigmenti is a rare genodermatosis in which the skin involvement occurs in all patients. Additionally, other ectodermal tissues may be affected,…”
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Gómez-López-Hernández Syndrome in a Child Born to Consanguineous Parents: New Evidence for an Autosomal-Recessive Pattern of Inheritance? by 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

“…Abstract Background Gómez-López-Hernández syndrome is a rare genetic disease characterized by scalp alopecia with trigeminal anesthesia, brachycephaly or…”
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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

“…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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Evaluation of genotoxic effects of benzene and its derivatives in workers of gas stations by Trevisan, Patrícia, da Silva, Juliane Nascimento, da Silva, Alessandra Pawelec, Rosa, Rafael Fabiano Machado, Paskulin, Giorgio Adriano, Thiesen, Flávia Valladão, de Oliveira, Ceres Andréia Vieira, Zen, Paulo Ricardo Gazzola

“…The search for reliable biomarkers of human exposure to benzene and its derivatives is still subject of research. Many of the proposed biomarkers have…”
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Nager syndrome and Pierre Robin sequence by Rosa, Rafael Fabiano Machado, Guimarães, Victória Bernardes, Beltrão, Luciana Amorim, Trombetta, Júlia Santana, Puma Lliguin, Karen Lizeth, Mattos, Vinicius Freitas, Zen, Paulo Ricardo Gazzola

“…Nager syndrome is considered a rare genetic syndrome characterized by craniofacial and radial anomalies. Pierre Robin sequence is a triad that includes…”
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Prenatal diagnosis of a true umbilical cord knot in a fetus with intrauterine growth restriction and placenta accreta by da Cunha, André Campos, da Silveira Betat, Rosilene, Dal Pai, Thaís Kappel Vieira, Arcolini, Camila Pauluci, Gobatto, Amanda Muriela, de Holleben Bicca, Anna Manoela, Zen, Paulo Ricardo Gazzola, Rosa, Rafael Fabiano Machado

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Clinical and cytogenetic features of a Brazilian sample of patients with phenotype of oculo-auriculo-vertebral spectrum: a cross-sectional study by Silva, Alessandra Pawelec da, Rosa, Rafael Fabiano Machado, Trevisan, Patrícia, Dorneles, Juliana Cavalheiro, Mesquita, Camila Saporiti, Mattos, Vinicius Freitas de, Paskulin, Giorgio Adriano, Zen, Paulo Ricardo Gazzola

“…Oculo-auriculo-vertebral spectrum (OAVS) is considered to be a defect of embryogenesis involving structures originating from the first branchial arches. Our…”
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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

“…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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Characteristics of fetuses evaluated due to suspected anencephaly: a population-based cohort study in southern Brazil by Pelizzari, Emanuele, Valdez, Carolina Melendez, Picetti, Jamile dos Santos, Cunha, André Campos da, Dietrich, Cristine, Fell, Paulo Renato Krahl, Targa, Luciano Vieira, Zen, Paulo Ricardo Gazzola, Rosa, Rafael Fabiano Machado

“…Anencephaly is considered to be the most common type of neural tube defect. Our aim was to assess the clinical and gestational features of a cohort of fetuses…”
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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

“…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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