Mariana A. Funari

Sao Paulo, SP 05403900, Brazil

Last Updated: 09/26/2026

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Found 31 publications

Efficacy of Liquid-chromatography and Radioimmunoassay in False-positives' Drop-off in CAH Newborn Screening.

Efficacy of Liquid-chromatography and Radioimmunoassay in False-positives' Drop-off in CAH Newborn Screening.

Journal: The Journal of clinical endocrinology and metabolism
Published: October 01, 2025

Efficacy of liquid-chromatography and radioimmunoassay in false-positives' drop-off in CAH newborn screening.

Efficacy of liquid-chromatography and radioimmunoassay in false-positives' drop-off in CAH newborn screening.

Journal: The Journal of clinical endocrinology and metabolism
Published: October 01, 2025

Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability.

Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability.

Journal: European journal of endocrinology
Published: May 10, 2023

Evidence for a Founder Effect of SDHB Exon 1 Deletion in Brazilian Patients With Paraganglioma.

Evidence for a Founder Effect of SDHB Exon 1 Deletion in Brazilian Patients With Paraganglioma.

Journal: The Journal of clinical endocrinology and metabolism
Published: December 11, 2022

Targeted massively parallel sequencing panel to diagnose genetic endocrine disorders in a tertiary hospital.

Targeted massively parallel sequencing panel to diagnose genetic endocrine disorders in a tertiary hospital.

Journal: Clinics (Sao Paulo, Brazil)
Published: September 19, 2022

Adult Height of Patients with SHOX Haploinsufficiency with or without GH Therapy: A Real-World Single-Center Study.

Adult Height of Patients with SHOX Haploinsufficiency with or without GH Therapy: A Real-World Single-Center Study.

Journal: Hormone research in paediatrics
Published: February 03, 2022

Variants in 46,XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias.

Variants in 46,XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias.

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
Published: October 28, 2020

Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile.

Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile.

Journal: American journal of medical genetics. Part A
Published: September 02, 2020

Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency.

Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency.

Journal: PloS one
Published: March 03, 2020

Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.

Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.

Journal: The Journal of clinical endocrinology and metabolism
Published: January 27, 2020

Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature.

Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature.

Journal: Hormone research in paediatrics
Published: May 28, 2019

Evaluation of SHOX defects in the era of next-generation sequencing.

Evaluation of SHOX defects in the era of next-generation sequencing.

Journal: Clinical genetics
Published: March 29, 2019
Showing 1-12 of 31

Last Updated: 09/26/2026