Monica M. Franca
Sao Paulo, SP, Brazil
Last Updated: 09/26/2026
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Found 24 publications
Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 26, 2024
Targeted massively parallel sequencing panel to diagnose genetic endocrine disorders in a tertiary hospital.
Journal: Clinics (Sao Paulo, Brazil)
Published: September 19, 2022
A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism.
Journal: Thyroid : official journal of the American Thyroid Association
Published: May 25, 2022
Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis.
Journal: Thyroid : official journal of the American Thyroid Association
Published: December 31, 2021
Genetics of ovarian insufficiency and defects of folliculogenesis.
Journal: Best practice & research. Clinical endocrinology & metabolism
Published: November 19, 2021
A truncating variant of RAD51B associated with primary ovarian insufficiency provides insights into its meiotic and somatic functions.
Journal: Cell death and differentiation
Published: October 28, 2021
Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism.
Journal: Thyroid : official journal of the American Thyroid Association
Published: July 29, 2020
Comprehensive Genetic Analysis of 128 Candidate Genes in a Cohort With Idiopathic, Severe, or Familial Osteoporosis.
Journal: Journal of the Endocrine Society
Published: March 24, 2020
Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency.
Journal: PloS one
Published: March 03, 2020
Nonautoimmune Hyperthyroidism Caused by a Somatic Mosaic GNAS Mutation Involving Part of the Thyroid Gland.
Journal: Thyroid : official journal of the American Thyroid Association
Published: January 08, 2020
The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort.
Journal: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
Published: November 28, 2019
Last Updated: 09/26/2026