Emanuela Manfredini

Milan, Italy

Last Updated: 09/26/2026

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Found 21 publications

Autosomal recessive retinopathy (ARRP) associated with a novel variant in NR2E3 gene.

Autosomal recessive retinopathy (ARRP) associated with a novel variant in NR2E3 gene.

Journal: Ophthalmic genetics

Published: July 10, 2026

Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver-Russell Syndrome and Focus on the IGF1R Gene.

Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver-Russell Syndrome and Focus on the IGF1R Gene.

Journal: The Journal of clinical endocrinology and metabolism

Published: June 26, 2024

Genetic Characterization of 191 Probands with Inherited Retinal Dystrophy by Targeted NGS Analysis.

Genetic Characterization of 191 Probands with Inherited Retinal Dystrophy by Targeted NGS Analysis.

Journal: Genes

Published: May 10, 2024

Optic Neuropathy AFG3L2 Related in a Patient Affected by Congenital Stationary Night Blindness.

Optic Neuropathy AFG3L2 Related in a Patient Affected by Congenital Stationary Night Blindness.

Journal: Case reports in ophthalmological medicine

Published: May 07, 2024

The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.

The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: June 27, 2022

Human Chromosome 18 and Acrocentrics: A Dangerous Liaison.

Human Chromosome 18 and Acrocentrics: A Dangerous Liaison.

Journal: International journal of molecular sciences

Published: March 02, 2021

Could two-dimensional radial strain be considered as a novel tool to identify pre-clinical hypertrophic cardiomyopathy mutation carriers?

Could two-dimensional radial strain be considered as a novel tool to identify pre-clinical hypertrophic cardiomyopathy mutation carriers?

Journal: The international journal of cardiovascular imaging

Published: February 25, 2019

22q11.2 microduplication syndrome and juvenile glaucoma.

22q11.2 microduplication syndrome and juvenile glaucoma.

Journal: Ophthalmic genetics

Published: June 15, 2018

The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.

The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.

Journal: Kidney international

Published: September 12, 2016

Erratum to: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.

Erratum to: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.

Journal: Clinical epigenetics

Published: April 07, 2016

Clinical evaluation and molecular screening of a large consecutive series of albino patients.

Clinical evaluation and molecular screening of a large consecutive series of albino patients.

Journal: Journal of human genetics

Published: March 22, 2016

Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma.

Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma.

Journal: Orphanet journal of rare diseases

Published: March 14, 2016

Showing 1-12 of 21

Last Updated: 09/26/2026