Alvaro Mesoraca

Rome, 00198, Italy

Last Updated: 09/26/2026

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Found 43 publications

Folate Receptor Alpha Autoantibodies in Early Pregnancy: First-Trimester Reference Intervals and Proposed Clinical Thresholds.

Folate Receptor Alpha Autoantibodies in Early Pregnancy: First-Trimester Reference Intervals and Proposed Clinical Thresholds.

Journal: Methods and protocols
Published: March 27, 2026

Neurodevelopmental Phenotype Associated with TRIP12: Report of a Family Carrying the p.Asp1135Val Variant.

Neurodevelopmental Phenotype Associated with TRIP12: Report of a Family Carrying the p.Asp1135Val Variant.

Journal: Genes
Published: November 18, 2025

Maternal Folate Receptor Alpha Autoantibodies and Increased Fetal Nuchal Translucency as Potential Early Markers of Autism Spectrum Disorder.

Maternal Folate Receptor Alpha Autoantibodies and Increased Fetal Nuchal Translucency as Potential Early Markers of Autism Spectrum Disorder.

Journal: Brain and behavior
Published: August 05, 2025

Prenatal Diagnosis and Genotype-Phenotype Correlation in 8q21.11 Microdeletion Syndrome: A Case Report.

Prenatal Diagnosis and Genotype-Phenotype Correlation in 8q21.11 Microdeletion Syndrome: A Case Report.

Journal: International medical case reports journal
Published: July 18, 2025

Characterization of a Novel GATA4 Missense Variant p.Gly303Trp in a Family with Septal Heart Defects and Pulmonary Stenosis.

Characterization of a Novel GATA4 Missense Variant p.Gly303Trp in a Family with Septal Heart Defects and Pulmonary Stenosis.

Journal: International journal of molecular sciences
Published: April 17, 2025

Pathogenic KCNH2 variant in monozygotic twins with speech delay and lower risk type 2 long QT syndrome.

Pathogenic KCNH2 variant in monozygotic twins with speech delay and lower risk type 2 long QT syndrome.

Journal: Neurogenetics
Published: March 19, 2025

Correction: Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR).

Correction: Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR).

Journal: Journal of assisted reproduction and genetics
Published: January 18, 2025

A Case Report of 10q24.32 Microduplication Associated with Split Hand/Foot Malformation (SHFM) in Prenatal Diagnosis.

A Case Report of 10q24.32 Microduplication Associated with Split Hand/Foot Malformation (SHFM) in Prenatal Diagnosis.

Journal: Fetal and pediatric pathology
Published: December 11, 2024

Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR).

Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR).

Journal: Journal of assisted reproduction and genetics
Published: October 16, 2024

Compound Heterozygous Variants in the IFT140 Gene Associated with Skeletal Ciliopathies.

Compound Heterozygous Variants in the IFT140 Gene Associated with Skeletal Ciliopathies.

Journal: Diagnostics (Basel, Switzerland)
Published: October 11, 2024

Prenatal Diagnosis by Trio Clinical Exome Sequencing: Single Center Experience.

Prenatal Diagnosis by Trio Clinical Exome Sequencing: Single Center Experience.

Journal: Current issues in molecular biology
Published: March 09, 2024

Digenic Origin of Difference of Sex Development in a Patient Harbouring DHX37 and MAMLD1 Variants.

Digenic Origin of Difference of Sex Development in a Patient Harbouring DHX37 and MAMLD1 Variants.

Journal: Case reports in pediatrics
Published: January 16, 2024
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Last Updated: 09/26/2026