Germline inactivating mutations of isoform 4 of phosphodiesterase (PDE) 11A (coded by the
PDE11A gene) have been associated with familial adrenocortical tumors and familial …

Reproductive physiology involves complex biological processes that can be disrupted by
exposure to environmental contaminants. The effects of bisphenol A (BPA) on …

Context Thyroid dysgenesis (TD) is the leading cause of congenital hypothyroidism (CH).
The etiology of TD remains unknown in∼ 90% of cases, the most common form being …

Clinical laboratories worldwide are implementing next-generation sequencing (NGS) to
identify cancer genomic variants and ultimately improve patient outcomes. The ability to …

Background The absence of expression of the Y-chromosome linked testis-determining
gene SRY in early supporting gonadal cells (ESGC) leads bipotential gonads into ovarian …

Use of next-generation sequencing to detect somatic variants in DNA extracted from formalin-
fixed, paraffin-embedded tumor tissues poses a challenge for clinical molecular diagnostic …

Germline mutations in codon 918 of exon 16 of the RET gene (M918T) are classically
associated with multiple endocrine neoplasia type 2B (MEN 2B) with highly aggressive …

Simple Summary Papillary thyroid cancer is not an aggressive cancer, even when
metastasis are present; therefore, treatment has been downgraded in recent years. However …

Objective To verify the presence of variants in HNF1B in a sample of the Brazilian population
selected according to the presence of renal cysts associated with hyperglycemia. Subjects …

Objectives About one-quarter of patients with medullary thyroid cancer (MTC) have inherited
disease due to mutations in the RET gene. A rare mutation in exon 8 (G533C) of RET …