Alessandra Del Longo
Milan, Italy
Last Updated: 09/26/2026
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Found 11 publications
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract.
Journal: Clinical genetics
Published: January 12, 2024
Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma.
Journal: JAMA ophthalmology
Published: January 18, 2019
Ocular features in mucopolysaccharidosis: diagnosis and treatment.
Journal: Italian journal of pediatrics
Published: November 17, 2018
Clinical evaluation and molecular screening of a large consecutive series of albino patients.
Journal: Journal of human genetics
Published: March 22, 2016
Enzymatic replacement therapy for Hunter disease: Up to 9 years experience with 17 patients.
Journal: Molecular genetics and metabolism reports
Published: March 04, 2016
Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations.
Journal: Ophthalmic genetics
Published: February 06, 2016
Detection of the first OCA6 Italian patient in a large cohort of albino subjects.
Journal: Journal of dermatological science
Published: October 31, 2015
Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites.
Journal: Journal of human genetics
Published: March 05, 2015
SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia.
Journal: European journal of medical genetics
Published: May 14, 2014
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Last Updated: 09/26/2026