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Expert Consensus on Geographic Atrophy in the EU: A Call for Urgent Policy Action

Ophthalmology and therapy, 2024-04, Vol.13 (4), p.867-881

2024

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OCCUPATIONAL ASTHMA CAUSED BY NEUROSPORA SITOPHILA SENSITIZATION IN A COFFEE DISPENSER SERVICE OPERATOR

Annals of allergy, asthma, & immunology, 2009-02, Vol.102 (2), p.168-169

2009

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Daily administration of low molecular weight heparin increases Hepatocyte Growth Factor serum levels in gynaecological patients: pharmacokinetic parameters and clinical implications

BMC research notes, 2012-09, Vol.5 (1), p.517-517, Article 517

2012

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Thermal processing of insect allergens and IgE cross-recognition in Italian patients allergic to shrimp, house dust mite and mealworm

Food research international, 2021-10, Vol.148, p.110567-110567, Article 110567

2021

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Genetic and molecular evidence for complement dysregulation in patients with HELLP syndrome

Thrombosis research, 2020-12, Vol.196, p.167-174

2020

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Patients with antiphosholipid syndrome and thrombotic recurrences: A real world observation (the Piedmont cohort study)

Lupus, 2016-04, Vol.25 (5), p.479-485

2016

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Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations

Scientific reports, 2017-11, Vol.7 (1), p.15681-8, Article 15681

2017

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Genotype-directed therapy and age-related-macular degeneration: a cautionary note

Clinical & experimental ophthalmology, 2015-09, Vol.43 (7), p.700-702

2015

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Diagnostic accuracy of two tests for determination of anti-m2 in the diagnosis of primary biliary cirrhosis: Is it possible to predict the course of the disease?

Immunologic research, 2017-02, Vol.65 (1), p.299-306

2017

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Nasal Nitric Oxide in Patients With Inherited Retinal Dystrophies

Journal of investigative medicine, 2015-03, Vol.63 (3), p.554-557

2015

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Thrombotic recurrences and bleeding events in APS vascular patients: A review from the literature and a comparison with the APS Piedmont Cohort

Autoimmunity reviews, 2013-06, Vol.12 (8), p.826-831

2013

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Homozygous c.1937+1G>A splice-site variant of the ABCA4 gene is associated with Stargardt disease

European journal of ophthalmology, 2014-09, Vol.24 (5), p.814-817

2014

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A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family

Journal of medical genetics, 2001-12, Vol.38 (12), p.863-867

2001

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Allelic imbalance at the LKB1 (STK11) locus in tumours from patients with Peutz-Jeghers' syndrome provides evidence for a hamartoma-(adenoma)-carcinoma sequence

The Journal of pathology, 1999-05, Vol.188 (1), p.9-13

1999

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Mutation analysis of oxisterol-binding-protein gene in patients with age-related macular degeneration

Genetic testing, 2007-12, Vol.11 (4), p.421

2007

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Prenatal diagnosis of a small chromosome 2-derived supernumerary marker, and review of the reported cases

American journal of medical genetics. Part A, 2007-09, Vol.143A (18), p.2200-2203

2007

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Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3

Journal of medical genetics, 1998-01, Vol.35 (1), p.42-44

1998

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Granular cell tumor in a PHTS patient with a novel germline PTEN mutation

American journal of medical genetics, 2003-07, Vol.120A (2), p.286-288

2003

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A silent mutation in exon 14 of theAPC gene is associated with exon skipping in a FAP family

Journal of medical genetics, 2001-12, Vol.38 (12), p.863

2001

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Mutational germline analysis of hMSH2 andhMLH1 genes in early onset colorectal cancer patients

Journal of medical genetics, 2000-07, Vol.37 (7), p.e7

2000

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Allelic imbalance at theLKB1 (STK11) locus in tumours from patients with Peutz-Jeghers' syndrome provides evidence for a hamartoma-(adenoma)-carcinoma sequence

The Journal of pathology, 1999-05, Vol.188 (1), p.9-13

1999

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Prenatal diagnosis of fragile X in a heterozygous female fetus and postnatal follow-up

Prenatal diagnosis, 1984-01, Vol.4 (1), p.61-66

1984

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Clinical Findings in a Family with Familial Adenomatous Polyposis and a Missense Mutation of the Adenomatous Polyposis Coli Gene

Scandinavian journal of gastroenterology, 1996, Vol.31 (9), p.917-920

1996

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The familial adenomatous polyposis region exhibits many different haplotypes

Human genetics, 1998-06, Vol.102 (6), p.624-628

1998

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Expert Consensus on Geographic Atrophy in the EU: A Call for Urgent Policy Action

Narrative medicine to investigate the quality of life and emotional impact of inherited retinal disorders through the perspectives of patients, caregivers and clinicians: an Italian multicentre project

OCCUPATIONAL ASTHMA CAUSED BY NEUROSPORA SITOPHILA SENSITIZATION IN A COFFEE DISPENSER SERVICE OPERATOR

Daily administration of low molecular weight heparin increases Hepatocyte Growth Factor serum levels in gynaecological patients: pharmacokinetic parameters and clinical implications

Thermal processing of insect allergens and IgE cross-recognition in Italian patients allergic to shrimp, house dust mite and mealworm

Genetic and molecular evidence for complement dysregulation in patients with HELLP syndrome

Patients with antiphosholipid syndrome and thrombotic recurrences: A real world observation (the Piedmont cohort study)

Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations

Genotype-directed therapy and age-related-macular degeneration: a cautionary note

Diagnostic accuracy of two tests for determination of anti-m2 in the diagnosis of primary biliary cirrhosis: Is it possible to predict the course of the disease?

Nasal Nitric Oxide in Patients With Inherited Retinal Dystrophies

Thrombotic recurrences and bleeding events in APS vascular patients: A review from the literature and a comparison with the APS Piedmont Cohort

Homozygous c.1937+1G>A splice-site variant of the ABCA4 gene is associated with Stargardt disease

A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family

Allelic imbalance at the LKB1 (STK11) locus in tumours from patients with Peutz-Jeghers' syndrome provides evidence for a hamartoma-(adenoma)-carcinoma sequence

Mutation analysis of oxisterol-binding-protein gene in patients with age-related macular degeneration

Prenatal diagnosis of a small chromosome 2-derived supernumerary marker, and review of the reported cases

Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3

Granular cell tumor in a PHTS patient with a novel germline PTEN mutation

A silent mutation in exon 14 of theAPC gene is associated with exon skipping in a FAP family

Mutational germline analysis of hMSH2 andhMLH1 genes in early onset colorectal cancer patients

Allelic imbalance at theLKB1 (STK11) locus in tumours from patients with Peutz-Jeghers' syndrome provides evidence for a hamartoma-(adenoma)-carcinoma sequence

Prenatal diagnosis of fragile X in a heterozygous female fetus and postnatal follow-up

Clinical Findings in a Family with Familial Adenomatous Polyposis and a Missense Mutation of the Adenomatous Polyposis Coli Gene

The familial adenomatous polyposis region exhibits many different haplotypes

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