De L. Jorge

Matão Street 277 Room 350
Sao Paulo, SP, Brazil

Last Updated: 09/26/2026

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Found 23 publications

International Consensus on the Diagnosis and Clinical Management of Idiopathic Short Stature: A Modified Delphi Method.

International Consensus on the Diagnosis and Clinical Management of Idiopathic Short Stature: A Modified Delphi Method.

Journal: Hormone research in paediatrics

Published: June 04, 2026

Pathways to Facilitate Early Recognition and Diagnosis of Hypochondroplasia.

Pathways to Facilitate Early Recognition and Diagnosis of Hypochondroplasia.

Journal: Advances in therapy

Published: December 24, 2025

Nanoplastics Impair GnRH Neuron Migration and Neuroendocrine Function: Emerging Players in the Pathogenesis of Reproductive Disorders.

Nanoplastics Impair GnRH Neuron Migration and Neuroendocrine Function: Emerging Players in the Pathogenesis of Reproductive Disorders.

Journal: Small (Weinheim an der Bergstrasse, Germany)

Published: May 22, 2025

Non-RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome.

Non-RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome.

Journal: American journal of medical genetics. Part A

Published: May 08, 2025

Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders.

Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders.

Journal: Molecular syndromology

Published: October 05, 2024

Split Hand-Foot Malformations-Unveiling Unique Molecular Diagnosis From a Brazilian Cohort.

Split Hand-Foot Malformations-Unveiling Unique Molecular Diagnosis From a Brazilian Cohort.

Journal: Clinical genetics

Published: August 29, 2024

Clinical Characteristics of Children with THRA Mutations: Variable Phenotype and Good Response to Recombinant Human Growth Hormone Therapy.

Clinical Characteristics of Children with THRA Mutations: Variable Phenotype and Good Response to Recombinant Human Growth Hormone Therapy.

Journal: Hormone research in paediatrics

Published: January 26, 2024

A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis.

A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis.

Journal: Current obesity reports

Published: November 08, 2023

Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.

Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.

Journal: Molecular neurobiology

Published: July 13, 2023

Development of a Minimum Dataset for the Monitoring of Recombinant Human Growth Hormone Therapy in Children with Growth Hormone Deficiency: A GloBE-Reg Initiative.

Development of a Minimum Dataset for the Monitoring of Recombinant Human Growth Hormone Therapy in Children with Growth Hormone Deficiency: A GloBE-Reg Initiative.

Journal: Hormone research in paediatrics

Published: May 02, 2023

SIN3A Defects Associated with Syndromic Congenital Hypogonadotropic Hypogonadism: An Overlap with Witteveen-Kolk Syndrome.

SIN3A Defects Associated with Syndromic Congenital Hypogonadotropic Hypogonadism: An Overlap with Witteveen-Kolk Syndrome.

Journal: Neuroendocrinology

Published: December 20, 2022

Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum.

Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum.

Journal: Genes

Published: May 17, 2021

Showing 1-12 of 23

Last Updated: 09/26/2026