Search Results - "Deconte, Desireé"

Candidate genes of oculo‐auriculo‐vertebral spectrum in 22q region: A systematic review by Glaeser, Andressa Barreto, Santos, Andressa Schneiders, Diniz, Bruna Lixinski, Deconte, Desireé, Rosa, Rafael Fabiano Machado, Zen, Paulo Ricardo Gazzola

“…ABSTRACT Oculo‐auriculo‐vertebral spectrum (hemifacial microsomia/OAVS, OMIM #164210) is a heterogenous and congenital condition caused by a morphogenesis…”
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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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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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Congenital Heart Defects and 22q11.2 Deletion Syndrome: A 20-Year Update and New Insights to Aid Clinical Diagnosis by Diniz, Bruna Lixinski, Deconte, Desirée, Gadelha, Kerolainy Alves, Glaeser, Andressa Barreto, Guaraná, Bruna Baierle, de Moura, Andreza Ávila, Rosa, Rafael Fabiano Machado, Zen, Paulo Ricardo Gazzola

“…Abstract Congenital heart defects (CHDs) are one of the most prevalent clinical features described in individuals diagnosed with 22q11.2 deletion syndrome…”
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Fluorescence in situ hybridization (FISH) as an irreplaceable diagnostic tool for Williams-Beuren syndrome in developing countries: a literature review by Carlotto, Bianca Soares, Deconte, Desirée, Diniz, Bruna Lixinski, Silva, Priscila Ramires da, Zen, Paulo Ricardo Gazzola, Silva, André Anjos da

“…ABSTRACT Objective: The aim of this study was to sum up and characterize all Williams-Beuren syndrome cases diagnosed by fluorescence in situ hybridization…”
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Microarray-Based Comparative Genomic Hybridization, Multiplex Ligation-Dependent Probe Amplification, and High-Resolution Karyotype for Differential Diagnosis Oculoauriculovertebral Spectrum: A Systematic Review by Glaeser, Andressa Barreto, Diniz, Bruna Lixinski, Deconte, Desirée, Santos, Andressa Schneiders, Rosa, Rafael Fabiano Machado, Zen, Paulo Ricardo Gazzola

“…Abstract Oculoauriculovertebral spectrum (OAVS) is a rare class of heterogenous congenital craniofacial malformation conditions of unknown etiology. Although…”
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Pseudohypoparathyroidism with Ectopic Calcification and 22q11 Deletion Syndrome: A Rare Case by Diniz, Bruna Lixinski, Glaeser, Andressa Barreto, Deconte, Desirée, Guaraná, Bruna Baierle, Rosa, Rafael Fabiano Machado, Zen, Paulo Ricardo Gazzola

“…Abstract Ectopic calcification in soft tissue is associated with several disorders including pseudohypoparathyroidism (PHP), which is characterized by…”
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Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism by Deconte, Desirée, Correia, Elisa Pacheco Estima, Haubert, Géssica, de Souza, Vinicius, Correia, Jamile Dutra, Maahs, Marcia Angelica Peter, Zen, Paulo Ricardo Gazzola, Fiegenbaum, Marilu, Rosa, Rafael Fabiano Machado

“…Abstract Cherubism is a rare genetic condition characterized by a bone nonneoplastic disease. We aimed to report a 6-year-old girl with cherubism presenting…”
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Unusual features in a child with Marshall-Smith syndrome due to a novel NFIX variant: Evidence for an abnormal protein function by Deconte, Desirée, dos Santos, Catarine Benta Lopes, de Morais, Camila Ohomoto, Yonamine, Tatiane Mayumi, Nogueira, Letícia Thaís, Ferreira, Maria Angélica Tosi, Franceschi, Vinícius Bonetti, Longhi, André Luís Soares, Villacis, Rolando André Rios, Rogatto, Silvia Regina, Ligabue-Braun, Rodrigo, Zen, Paulo Ricardo Gazzola, Rosa, Rafael Fabiano Machado, Fiegenbaum, Marilu

“…Marshall-Smith syndrome (MSS) is a rare genetic condition characterized by different clinical features, such as accelerated skeletal maturation, growth…”
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Fluorescence in situ hybridization (FISH) as an irreplaceable diagnostic tool for Williams-Beuren syndrome in developing countries: a literature review by Carlotto, Bianca Soares, Deconte, Desirée, Diniz, Bruna Lixinski, Silva, Priscila Ramires da, Zen, Paulo Ricardo Gazzola, Silva, André Anjos da

“…The aim of this study was to sum up and characterize all Williams-Beuren syndrome cases diagnosed by fluorescence in situ hybridization (FISH) since its…”
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Pseudohypoparathyroidism with Ectopic Calcification and 22q11 Deletion Syndrome: A Rare Case by Diniz, Bruna Lixinski, Glaeser, Andressa Barreto, Deconte, Desirée, Guaraná, Bruna Baierle, Rosa, Rafael Fabiano Machado, Zen, Paulo Ricardo Gazzola

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Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism by Deconte, Desirée, Correia, Elisa Pacheco Estima, Haubert, Géssica, de Souza, Vinicius, Correia, Jamile Dutra, Maahs, Marcia Angelica Peter, Zen, Paulo Ricardo Gazzola, Fiegenbaum, Marilu, Rosa, Rafael Fabiano Machado

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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

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