Diana Postorivo
Milan, 20154, Italy
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 19 publications
Preliminary Data of the First Year of Newborn Screening for Metachromatic Leukodystrophy (MLD) in Lombardy.
Journal: International journal of neonatal screening
Published: April 30, 2026
Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Three New Cases Detected by Newborn Screening Confirming the Significance of C4OH Elevation.
Journal: International journal of neonatal screening
Published: July 08, 2025
Correction: Berardo et al. Expanded Newborn Screening in Italy: The First Report of Lombardy Region. Int. J. Neonatal Screen. 2025, 11, 31.
Journal: International journal of neonatal screening
Published: June 25, 2025
Expanded Newborn Screening in Italy: The First Report of Lombardy Region.
Journal: International journal of neonatal screening
Published: February 04, 2025
Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome.
Journal: Cell death & disease
Published: September 15, 2022
Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.
Journal: Molecular genetics & genomic medicine
Published: July 25, 2019
Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.
Journal: Clinical genetics
Published: February 25, 2019
Copy number variations in healthy subjects. Case study: iPSC line CSSi005-A (3544) production from an individual with variation in 15q13.3 chromosome duplicating gene CHRNA7.
Journal: Stem cell research
Published: June 07, 2018
Identification of i(X)(p10) as the sole molecular abnormality in atypical chronic myeloid leukemia evolved into acute myeloid leukemia.
Journal: Molecular and clinical oncology
Published: September 15, 2017
Small 4p16.3 deletions: Three additional patients and review of the literature.
Journal: American journal of medical genetics. Part A
Published: August 30, 2017
A Small Supernumerary Marker Derived from the Pericentromeric Region of Chromosome 5: Case Report and Delineation of Partial Trisomy 5p Phenotype.
Journal: Cytogenetic and genome research
Published: August 08, 2017
Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature.
Journal: European journal of medical genetics
Published: August 07, 2017
Last Updated: 09/26/2026