A. Bassotti

发表

Ehlers–Danlos Syndrome in an Adult Woman: A Hidden Syndrome

M. Cappellini, D. Spinelli, F. Minonzio, 2014 .

The cornea in classic type Ehlers-Danlos syndrome: macro- and microstructural changes.

P. Nucci, E. Villani, R. Ratiglia, 2013, Investigative ophthalmology & visual science.

Is the Pain Just Physical? The Role of Psychological Distress, Quality of Life, and Autistic Traits in Ehlers–Danlos Syndrome, an Internet-Based Survey in Italy

M. Mosconi, S. Damiani, N. Brondino, 2021, Healthcare.

Hemostatic abnormalities in patients with Ehlers–Danlos syndrome

B. Marinelli, I. Martinelli, P. Bucciarelli, 2018, Journal of thrombosis and haemostasis : JTH.

A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family

B. Marinelli, A. Pesatori, M. Seia, 2017, Vascular and endovascular surgery.

Next generation sequencing in the clinical setting

Francesca Cortini, Barbara Marinelli, Alessandra Bassotti, 2017 .

Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers–Danlos syndrome with severe intestinal involvement: a case report

B. Marinelli, A. Pesatori, M. Seia, 2016, Journal of Medical Case Reports.

Clinical Application of NGS Tools in the Diagnosis of Collagenopathies

B. Marinelli, A. Pesatori, M. Seia, 2017 .

Screening for cystic fibrosis in newborn infants: results of a pilot programme based on a two tier protocol (IRT/DNA/IRT) in the Italian population

A. Giunta, M. Seia, C. Corbetta, 2002, Journal of medical screening.

COL1-Related Disorders: Case Report and Review of Overlapping Syndromes

L. Sangiorgi, M. Maioli, C. Giunta, 2021, Frontiers in Genetics.

Bone involvement in adult patients affected with Ehlers-Danlos syndrome.

B. Marinelli, I. Chiodini, C. Eller-Vainicher, 2016, Osteoporosis International.

Pain in Ehlers–Danlos Syndrome: A Non-Diagnostic Disabling Symptom?

F. Grassi, M. Mosconi, G. Pasta, 2023, Healthcare.

Ehlers-Danlos Syndrome classical type: A novel COL5A2 missense mutation with possible additive effect of a COL5A1 stop-gain mutation in a strongly correlated phenotype

B. Marinelli, A. Pesatori, M. Seia, 2018, Meta Gene.

Understanding the basis of Ehlers–Danlos syndrome in the era of the next-generation sequencing

B. Marinelli, A. Pesatori, R. Combi, 2019, Archives of Dermatological Research.

Identification of the 5T-12TG allele of the cystic fibrosis transmembrane conductance regulator gene in hypertrypsinaemic newborns.

M. Seia, C. Corbetta, R. Padoan, 2006, Acta paediatrica.

Identification of the 5T‐12TG allele of the cystic fibrosis transmembrane conductance regulator gene in hypertrypsinaemic newborns

M. Seia, C. Corbetta, R. Padoan, 2006 .

Negative sweat test in hypertrypsinaemic infants with cystic fibrosis carrying rare CFTR mutations

M. Seia, C. Corbetta, R. Padoan, 2002, European Journal of Pediatrics.