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Lurdes Sampaio

Sao Paulo State University

14

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34

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Research Article Zinc oxide nanoparticles at environmentally relevant concentrations cause cytotoxic and chromosomal damage to Allium cepa root cells

2021 Genetics and Molecular Research
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Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).

2020 Human Genetics
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Hidden by the hair - a precocious puberty case report

2020 NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL
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Congenital adrenal hyperplasia in paediatric age molecular analysis of the CYP21A2 gene and implications for genetic counselling

2019 European Journal of Human Genetics
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Congenital adrenal hyperplasia in paediatric age: molecular analysis of the CYP21A2 gene and implications for genetic counselling

2018
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Clinical review of nine cases of pseudohypoparathyroidism

2017
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Adrenal hypoplasia congenita: a rare cause of primary adrenal insufficiency and hypogonadotropic hypogonadism

2015 Pediatric Reports
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Growth and puberty in type 1 diabetes mellitus - experience from a pediatric endocrinology unit

2012 Acta Médica Portuguesa
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Permanent neonatal diabetes mellitus due to KCNJ11 mutation in a Portuguese family: transition from insulin to oral sulfonylureas.

2012 Journal of Pediatric Endocrinology and Metabolism
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Citations (14)