Rosamaria Silipigni
Milan, Italy
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 42 publications
CTNND1-Related Disorder: New Insight on Prenatal Phenotype.
Journal: American journal of medical genetics. Part A
Published: March 01, 2024
Lewy pathology formation in patient-derived GBA1 Parkinson's disease midbrain organoids.
Journal: Brain : a journal of neurology
Published: November 27, 2023
A Case of 18p Chromosomal Deletion Encompassing GNAL in a Patient With Dystonia-Parkinsonism.
Journal: Journal of movement disorders
Published: October 29, 2023
A long way to syndromic short stature.
Journal: Italian journal of pediatrics
Published: October 18, 2023
Generation of human induced pluripotent stem cell line EURACi015-A from a patient affected by dilated cardiomyopathy carrying the Lamin A/C p.Glu161Lys mutation.
Journal: Stem cell research
Published: June 29, 2023
Isolation of single circulating trophoblasts from maternal circulation for noninvasive fetal copy number variant profiling.
Journal: Prenatal diagnosis
Published: October 26, 2022
Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).
Journal: Prenatal diagnosis
Published: August 05, 2022
Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases.
Journal: American journal of medical genetics. Part A
Published: May 03, 2022
Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW-related prenatal findings.
Journal: Prenatal diagnosis
Published: February 22, 2022
Clinical features and magnesium levels: Novel insights in 15q11.2 BP1-BP2 copy number variants.
Journal: Journal of intellectual disability research : JIDR
Published: February 15, 2022
Generation of an induced pluripotent stem cell line (EURACi014-A) from a Parkinson's disease patient with an A53T mutation in the SNCA gene by an integration-free reprogramming method.
Journal: Stem cell research
Published: December 15, 2021
Generation and characterization of induced pluripotent stem cell (iPSC) lines of two asymptomatic individuals carrying a heterozygous exon 7 deletion in Parkin (PRKN) and two non-carriers from the same family.
Journal: Stem cell research
Published: November 19, 2021
Last Updated: 09/26/2026