Laura L. Carvalho

Matão Street 277 Room 350
Sao Paulo, SP, Brazil

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 21 publications

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

A role for EHMT2 in a novel autosomal recessive neurodevelopmental syndrome? A case report.

A role for EHMT2 in a novel autosomal recessive neurodevelopmental syndrome? A case report.

Journal: Frontiers in genetics

Published: March 06, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: American journal of human genetics

Published: February 15, 2026

Clinical and Molecular Characterization of Xia-Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort.

Clinical and Molecular Characterization of Xia-Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort.

Journal: Clinical genetics

Published: March 07, 2025

Advances in exploring the association between FMR1 premutation and fibromyalgia: a pilot study with a more effective sample definition.

Advances in exploring the association between FMR1 premutation and fibromyalgia: a pilot study with a more effective sample definition.

Journal: Clinics (Sao Paulo, Brazil)

Published: February 28, 2025

Evaluation of 73 Enlisted Patients for Liver Transplant with Unknown Etiology Reveals a Late-Diagnosed Case of Lysosomal Acid Lipase Deficiency.

Evaluation of 73 Enlisted Patients for Liver Transplant with Unknown Etiology Reveals a Late-Diagnosed Case of Lysosomal Acid Lipase Deficiency.

Journal: International journal of molecular sciences

Published: July 04, 2024

EHMT2 as a Candidate Gene for an Autosomal Recessive Neurodevelopmental Syndrome.

EHMT2 as a Candidate Gene for an Autosomal Recessive Neurodevelopmental Syndrome.

Journal: Molecular neurobiology

Published: May 06, 2024

Induced degeneration and regeneration in aged muscle reduce tubular aggregates but not muscle function.

Induced degeneration and regeneration in aged muscle reduce tubular aggregates but not muscle function.

Journal: Frontiers in neurology

Published: November 09, 2023

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

Germline mutations in cancer predisposition genes among pediatric patients with cancer and congenital anomalies.

Germline mutations in cancer predisposition genes among pediatric patients with cancer and congenital anomalies.

Journal: Pediatric research

Published: September 11, 2023

Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: Models for Xia-Gibbs syndrome.

Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: Models for Xia-Gibbs syndrome.

Journal: Gene

Published: December 12, 2022

Showing 1-12 of 21

Last Updated: 09/26/2026