Lucas L. Pires

Sao Paulo, SP, Brazil

Last Updated: 09/26/2026

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Found 10 publications

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

Danon Disease: Understanding the Role of LAMP2 Variants in Cardiomyopathy and Multisystemic Involvement.

Danon Disease: Understanding the Role of LAMP2 Variants in Cardiomyopathy and Multisystemic Involvement.

Journal: Arquivos brasileiros de cardiologia

Published: March 18, 2025

Is This a Causal Relationship? Mendelian Randomization as a Statistical Method for Unraveling Connections.

Is This a Causal Relationship? Mendelian Randomization as a Statistical Method for Unraveling Connections.

Journal: Arquivos brasileiros de cardiologia

Published: September 16, 2024

Unveiling the Genetic Puzzle: Asymmetric Hypertrophy in a Heart Transplant Recipient Linked to Birt-Hogg-Dubé Syndrome.

Unveiling the Genetic Puzzle: Asymmetric Hypertrophy in a Heart Transplant Recipient Linked to Birt-Hogg-Dubé Syndrome.

Journal: Arquivos brasileiros de cardiologia

Published: June 28, 2024

Plastic Bronchitis in Noonan Syndrome: Further Evidence Suggesting a Higher Risk of Lymphatic Abnormalities in Individuals Harboring Variants in PTPN11 Residue p.Phe285.

Plastic Bronchitis in Noonan Syndrome: Further Evidence Suggesting a Higher Risk of Lymphatic Abnormalities in Individuals Harboring Variants in PTPN11 Residue p.Phe285.

Journal: Molecular syndromology

Published: February 29, 2024

The first Brazilian clinical report of Kleefstra syndrome, including semicircular canals agenesis as a possible phenotype expansion.

The first Brazilian clinical report of Kleefstra syndrome, including semicircular canals agenesis as a possible phenotype expansion.

Journal: European journal of medical genetics

Published: December 05, 2023

Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome.

Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome.

Journal: Genomics

Published: June 23, 2022

Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms.

Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms.

Journal: Clinical genetics

Published: May 10, 2021

Atypical, severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variant.

Atypical, severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variant.

Journal: American journal of medical genetics. Part A

Published: March 26, 2021

Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool.

Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool.

Journal: Arquivos de neuro-psiquiatria

Published: September 21, 2020

Showing 1-10 of 10

Last Updated: 09/26/2026