Ana V. Krepischi

Matão Street 277 Room 350
Sao Paulo, SP, Brazil

Last Updated: 09/26/2026

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Found 75 publications

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

Long-Term Follow Up of Two Patients With Variants in the Cluster 1031-1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism.

Long-Term Follow Up of Two Patients With Variants in the Cluster 1031-1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism.

Journal: American journal of medical genetics. Part A

Published: November 06, 2025

Overexpression of SOX3 due to an X chromosome inversion leading to ovotesticular difference in sex development.

Overexpression of SOX3 due to an X chromosome inversion leading to ovotesticular difference in sex development.

Journal: Biology of sex differences

Published: October 21, 2025

A Complex Chromosome Rearrangement Disrupting SYT1 Supports Haploinsufficiency as a Cause of Baker-Gordon Syndrome.

A Complex Chromosome Rearrangement Disrupting SYT1 Supports Haploinsufficiency as a Cause of Baker-Gordon Syndrome.

Journal: Case reports in genetics

Published: August 26, 2025

SMC6 expression & outcome of breast cancer.

SMC6 expression & outcome of breast cancer.

Journal: The Indian journal of medical research

Published: April 10, 2025

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

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions.

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions.

Journal: American journal of medical genetics. Part A

Published: February 27, 2025

Uniparental disomy (UPD) as the cause of inconsistencies in parentage tests: report of maternal UPD of chromosome 2 and review of the literature.

Uniparental disomy (UPD) as the cause of inconsistencies in parentage tests: report of maternal UPD of chromosome 2 and review of the literature.

Journal: International journal of legal medicine

Published: October 08, 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

Correction: First Transcriptome Analysis of Hepatoblastoma in Brazil: Unraveling the Pivotal Role of Noncoding RNAs and Metabolic Pathways.

Correction: First Transcriptome Analysis of Hepatoblastoma in Brazil: Unraveling the Pivotal Role of Noncoding RNAs and Metabolic Pathways.

Journal: Biochemical genetics

Published: June 01, 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

The genetic etiology is a relevant cause of central precocious puberty.

The genetic etiology is a relevant cause of central precocious puberty.

Journal: European journal of endocrinology

Published: March 02, 2024

Showing 1-12 of 75

Last Updated: 09/26/2026