Luigia De Falco

Naples, Italy

Last Updated: 09/26/2026

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Found 37 publications

9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms.

9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms.

Journal: American journal of medical genetics. Part A

Published: July 26, 2025

Early Diagnosis and Follow-Up of a Novel Homozygous Mutation in SOST Gene in a Child with Recurrent Facial Palsy: A Case Report and Review of the Literature.

Early Diagnosis and Follow-Up of a Novel Homozygous Mutation in SOST Gene in a Child with Recurrent Facial Palsy: A Case Report and Review of the Literature.

Journal: International journal of molecular sciences

Published: July 16, 2025

BRAF V600E mutation associated with papillary high-grade serous ovarian cystadenocarcinoma in a 22q11.2DS patient.

BRAF V600E mutation associated with papillary high-grade serous ovarian cystadenocarcinoma in a 22q11.2DS patient.

Journal: Gynecologic oncology reports

Published: April 05, 2025

Advancing Non-Invasive Prenatal Screening: A Targeted 1069-Gene Panel for Comprehensive Detection of Monogenic Disorders and Copy Number Variations.

Advancing Non-Invasive Prenatal Screening: A Targeted 1069-Gene Panel for Comprehensive Detection of Monogenic Disorders and Copy Number Variations.

Journal: Genes

Published: February 03, 2025

The Application of Liquid Biopsy for the Development and Validation of a Non-Invasive Screening and Diagnosis Test for Endometrial Premalignant and Malignant Lesions: A Prospective Innovative Pilot Study.

The Application of Liquid Biopsy for the Development and Validation of a Non-Invasive Screening and Diagnosis Test for Endometrial Premalignant and Malignant Lesions: A Prospective Innovative Pilot Study.

Journal: Cancers

Published: January 15, 2025

Inherited Unbalanced Reciprocal Translocation with 18p11.32p11.21 Tetrasomy and 9q34.3 Trisomy in a Fetus Revealed by Cell-Free Fetal DNA (cffDNA) Testing: Cytogenetic and Cytogenomic Characterization in Prenatal Diagnosis.

Inherited Unbalanced Reciprocal Translocation with 18p11.32p11.21 Tetrasomy and 9q34.3 Trisomy in a Fetus Revealed by Cell-Free Fetal DNA (cffDNA) Testing: Cytogenetic and Cytogenomic Characterization in Prenatal Diagnosis.

Journal: Genes

Published: September 19, 2024

Trisomy 21 with Maternally Inherited Balanced Translocation (15q;22q) in a Female Fetus: A Rare Case of Probable Interchromosomal Effect.

Trisomy 21 with Maternally Inherited Balanced Translocation (15q;22q) in a Female Fetus: A Rare Case of Probable Interchromosomal Effect.

Journal: Cells

Published: May 20, 2024

Editorial: Unravelling the basis of non-invasive prenatal screening results.

Editorial: Unravelling the basis of non-invasive prenatal screening results.

Journal: Frontiers in genetics

Published: June 26, 2023

Non-invasive prenatal testing can detect silent cancers in expecting mothers.

Non-invasive prenatal testing can detect silent cancers in expecting mothers.

Journal: Genes & diseases

Published: April 06, 2023

Clinical Experience with Genome-Wide Noninvasive Prenatal Screening in a Large Cohort of Twin Pregnancies.

Clinical Experience with Genome-Wide Noninvasive Prenatal Screening in a Large Cohort of Twin Pregnancies.

Journal: Genes

Published: March 28, 2023

A Case Report of a Feto-Placental Mosaicism Involving a Segmental Aneuploidy: A Challenge for Genome Wide Screening by Non-Invasive Prenatal Testing of Cell-Free DNA in Maternal Plasma.

A Case Report of a Feto-Placental Mosaicism Involving a Segmental Aneuploidy: A Challenge for Genome Wide Screening by Non-Invasive Prenatal Testing of Cell-Free DNA in Maternal Plasma.

Journal: Genes

Published: February 08, 2023

Non-Invasive Prenatal Screening: The First Report of Pentasomy X Detected by Plasma Cell-Free DNA and Karyotype Analysis.

Non-Invasive Prenatal Screening: The First Report of Pentasomy X Detected by Plasma Cell-Free DNA and Karyotype Analysis.

Journal: Diagnostics (Basel, Switzerland)

Published: April 29, 2022

Showing 1-12 of 37

Last Updated: 09/26/2026