Search Results - "Guaraná, Bruna Baierle"

Turner syndrome and neuropsychological abnormalities: a review and case series by Guaraná, Bruna Baierle, Nunes, Marcela Rodrigues, Muniz, Victória Feitosa, Diniz, Bruna Lixinski, Nunes, Maurício Rouvel, Böttcher, Ana Kalise, Rosa, Rafael Fabiano Machado, Mergener, Rafaella, Zen, Paulo Ricardo Gazzola

“…The objective of this study was to establish the genotype-phenotype correlation between karyotype results and the neurological and psychiatric alterations…”
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A child with cat-eye syndrome and oculo-auriculo-vertebral spectrum phenotype: A discussion around molecular cytogenetic findings by Glaeser, Andressa Barreto, Diniz, Bruna Lixinski, Santos, Andressa Schneiders, Guaraná, Bruna Baierle, Muniz, Victória Feitosa, Carlotto, Bianca Soares, Everling, Eduardo Morais, Noguchi, Patrícia Yuri, Garcia, Aline Ramos, Miola, Juliana, Riegel, Mariluce, Mergener, Rafaella, Gazzola Zen, Paulo Ricardo, Machado Rosa, Rafael Fabiano

“…Cat eye syndrome (CES) is a rare chromosomal disorder that may be evident at birth. A small supernumerary chromosome is present, frequently has 2 centromeres,…”
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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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Congenital Heart Defects and Dysmorphic Facial Features in Patients Suspicious of 22q11.2 Deletion Syndrome in Southern Brazil by Diniz, Bruna Lixinski, Santos, Andressa Schneiders, Glaeser, Andressa Barreto, Guaraná, Bruna Baierle, Lorea, Cláudia Fernandes, Josahkian, Juliana Alves, Huber, Janaína, Rosa, Rafael Fabiano Machado, Zen, Paulo Ricardo Gazzola

“…Abstract 22q11.2 deletion syndrome (22q11.2DS) is considered one of the most frequently observed chromosomal abnormalities in association with congenital heart…”
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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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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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