Antonio Pizzuti

Rome, 00185, Italy

Last Updated: 09/26/2026

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Found 119 publications

Impact of a detailed ultrasound in pregnancies with high-risk cell-free DNA for common autosomal aneuploidies: a systematic review and meta-analysis.

Impact of a detailed ultrasound in pregnancies with high-risk cell-free DNA for common autosomal aneuploidies: a systematic review and meta-analysis.

Journal: European journal of obstetrics, gynecology, and reproductive biology

Published: April 08, 2026

Biallelic BAIAP3 Variants Are Associated with Isolated Retinitis Pigmentosa.

Biallelic BAIAP3 Variants Are Associated with Isolated Retinitis Pigmentosa.

Journal: International journal of molecular sciences

Published: July 24, 2025

NUAK2 Pathogenic Variants Are Definitively Associated with Neural Tube Defects in Humans: New Genotype-Phenotype Correlation and Review of the Literature.

NUAK2 Pathogenic Variants Are Definitively Associated with Neural Tube Defects in Humans: New Genotype-Phenotype Correlation and Review of the Literature.

Journal: Diagnostics (Basel, Switzerland)

Published: July 04, 2025

Microduplication encompassing CCL2 segregates in a family with recurrent anencephaly and dorsal dermal sinus: a possible link between chemokine and neural tube defects?

Microduplication encompassing CCL2 segregates in a family with recurrent anencephaly and dorsal dermal sinus: a possible link between chemokine and neural tube defects?

Journal: European journal of obstetrics, gynecology, and reproductive biology

Published: June 27, 2025

BRCA Screening and Identification of a Common Haplotype in the Jewish Community of Rome Reveal a Founder Effect for the c.7007G>C, p. (Arg2336Pro) BRCA2 Variant.

BRCA Screening and Identification of a Common Haplotype in the Jewish Community of Rome Reveal a Founder Effect for the c.7007G>C, p. (Arg2336Pro) BRCA2 Variant.

Journal: Cancers

Published: May 12, 2025

Variable Intrafamilial Cardiac Phenotype Segregating With a TBX20 Missense Variant in the Putative Transcriptional Activation Domain.

Variable Intrafamilial Cardiac Phenotype Segregating With a TBX20 Missense Variant in the Putative Transcriptional Activation Domain.

Journal: American journal of medical genetics. Part A

Published: March 16, 2025

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B -Related Disorders: Case Series and Review of the Literature.

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B -Related Disorders: Case Series and Review of the Literature.

Journal: American journal of medical genetics. Part A

Published: January 22, 2025

Beyond the BRCA1/2 genes in ovarian cancer: the role of germline pathogenic variants in the ATM gene.

Beyond the BRCA1/2 genes in ovarian cancer: the role of germline pathogenic variants in the ATM gene.

Journal: Molecular biology reports

Published: January 05, 2025

MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients.

MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients.

Journal: European journal of human genetics : EJHG

Published: December 31, 2024

Fetal Hydrops: Genetic Dissection of an Unspecific Sonographic Finding-A Comprehensive Review.

Fetal Hydrops: Genetic Dissection of an Unspecific Sonographic Finding-A Comprehensive Review.

Journal: Diagnostics (Basel, Switzerland)

Published: December 30, 2024

A functional role for Septin-2 in the maintenance of the axon initial segment and in human cognitive development.

A functional role for Septin-2 in the maintenance of the axon initial segment and in human cognitive development.

Journal: Brain : a journal of neurology

Published: October 19, 2024

Craniofacial and Dental Anomalies of a Patient Carrying Two MicroRNA Variants: A Proof-Of-Concept Case Report.

Craniofacial and Dental Anomalies of a Patient Carrying Two MicroRNA Variants: A Proof-Of-Concept Case Report.

Journal: Clinical case reports

Published: October 02, 2024

Showing 1-12 of 119

Last Updated: 09/26/2026