Search Results - "Nunes, Marcela Rodrigues"

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    invdup(8)(8q24.13q24.3)-A Complex Alteration and Its Clinical Consequences by Mergener, Rafaella, Nunes, Marcela Rodrigues, Böttcher, Ana Kalise, Siqueira, Monique Banik, Peruzzo, Helena Froener, Merola, Milene Carvalho, Riegel, Mariluce, Zen, Paulo Ricardo Gazzola

    Published in Genes (12-07-2024)
    “…Structural variation is a source of genetic variation that, in some cases, may trigger pathogenicity. Here, we describe two cases, a mother and son, with the…”
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    Journal Article
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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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    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

    Published in Revista Paulista de Pediatria (01-01-2025)
    “…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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    16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension? by Nascimento, Lívia Polisseni Cotta, Mergener, Rafaella, Nunes, Marcela Rodrigues, Muniz, Victória Feitosa, Catao, Juliana Rossi, Silveira, Ana Kalise Böttcher da, Dorfman, Luiza Emy, Graziadio, Carla, Zen, Paulo Ricardo Gazzola

    Published in Genes (01-08-2023)
    “…We report the first case of a child with 16p11.2 microduplication syndrome with increased fluid in the cisterna magna seen on magnetic resonance imaging (MRI)…”
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    What Can Really Be Considered a Syndrome? An Insight Based on 16p11.2 Microduplication by Mergener, Rafaella, Nascimento, Lívia Polisseni Cotta, Böttcher, Ana Kalise, Nunes, Marcela Rodrigues, Zen, Paulo Ricardo Gazzola

    Published in Cell biochemistry and function (01-09-2024)
    “…ABSTRACT What is the definition of Syndrome? Since the beginning of studies in genetics, certain terminologies have been created and used to define groups of…”
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    Journal Article