Sara Loddo

Rome, Italy

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 44 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

Cytogenomics and optical genome mapping approaches characterize a derivative interstitial monosomy 18p due to a maternal complex intrachromosomal rearrangement.

Cytogenomics and optical genome mapping approaches characterize a derivative interstitial monosomy 18p due to a maternal complex intrachromosomal rearrangement.

Journal: Molecular cytogenetics
Published: July 12, 2025

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.

Journal: European journal of human genetics : EJHG
Published: April 02, 2025

Non-Invasive Prenatal Test Analysis Opens a Pandora's Box: Identification of Very Rare Cases of SRY-Positive Healthy Females, Segregating for Three Generations Thanks to Preferential Inactivation of the XqYp Translocated Chromosome.

Non-Invasive Prenatal Test Analysis Opens a Pandora's Box: Identification of Very Rare Cases of SRY-Positive Healthy Females, Segregating for Three Generations Thanks to Preferential Inactivation of the XqYp Translocated Chromosome.

Journal: Genes
Published: December 11, 2023

TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies.

TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies.

Journal: Journal of medical genetics
Published: December 06, 2023

Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.

Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.

Journal: American journal of medical genetics. Part A
Published: October 14, 2023

Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review.

Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review.

Journal: Frontiers in genetics
Published: October 10, 2023

Deep Intronic LINE-1 Insertions in NF1: Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements.

Deep Intronic LINE-1 Insertions in NF1: Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements.

Journal: Biomolecules
Published: March 06, 2023

Cardiovascular Involvement in Pediatric FLNC Variants: A Case Series of Fourteen Patients.

Cardiovascular Involvement in Pediatric FLNC Variants: A Case Series of Fourteen Patients.

Journal: Journal of cardiovascular development and disease
Published: September 04, 2022

A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy.

A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy.

Journal: International journal of molecular sciences
Published: September 01, 2022

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.

Journal: American journal of medical genetics. Part A
Published: March 01, 2022

Rare copy number variants in ASTN2 gene in patients with neurodevelopmental disorders.

Rare copy number variants in ASTN2 gene in patients with neurodevelopmental disorders.

Journal: Psychiatric genetics
Published: August 19, 2021
Showing 1-12 of 44

Last Updated: 09/26/2026