Paolo Siani
Biographic Data
| ID | 7601788 |
|---|---|
| NAME | Paolo Siani |
| GIVEN NAMES | Paolo |
| FAMILY NAME | Siani |
| SIGNATURE | SIANI P |
| AFFILIATIONS | Santobono Children's Hospital |
| VERIFIED | No |
| TOTAL WORKS | 3 |
| TOTAL CITATIONS | 0 |
| AUTHOR COUNT | 3 |
| EDITOR COUNT | 0 |
| FIRST PUBLICATION YEAR | 2024 |
| LATEST PUBLICATION YEAR | 2025 |
| H-INDEX | 0 |
Unusual Onset of Hereditary Hemorrhagic Telangiectasia Due to Somatic Mutational Mosaicism
Hereditary Hemorrhagic Telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is a disorder of angiogenesis characterized by mucocutaneous telangiectasias and visceral arteriovenous malformations. This rare autosomal dominant disorder is caused by pathogenic variants in the ENG and ACVRL1 genes, and only 1-3% of case variants occur in SMAD4 . HHT clinical manifestations include telangiectasias, epistaxis, and arteriovenous malformations …
Refractory Chylothorax and Ventricular Hypertrophy Treated with Trametinib in a Patient with Noonan Syndrome
RASopathies are a group of genetic syndromes caused by germline mutations in genes involved in the RAS/Mitogen-Activated Protein Kinase signaling pathway, which regulates cellular proliferation, differentiation, and angiogenesis. Despite their involvement at different levels of this pathway, RASopathies share overlapping clinical phenotypes. Noonan syndrome is the most prevalent RASopathy, with an estimated incidence of 1 in 2500 live births, and…
Perceptions and Expectations of Youth Regarding the Respect for Their Rights in the Hospital
Information obtained from children themselves regarding the characteristics of the ideal hospital that ensure well-being during a hospital stay is scarce. Here, we report the opinions, perceptions, and expectations of 700 children and adolescents about their experiences, assessed through a mixed-method research approach with age-appropriate questionnaires, three open-ended questions, and an analysis of optional pictorial and textual narratives. M…
No prominent works on this page.
Refractory Chylothorax and Ventricular Hypertrophy Treated with Trametinib in a Patient with Noonan Syndrome
RASopathies are a group of genetic syndromes caused by germline mutations in genes involved in the RAS/Mitogen-Activated Protein Kinase signaling pathway, which regulates cellular proliferation, differentiation, and angiogenesis. Despite their involvement at different levels of this pathway, RASopathies share overlapping clinical phenotypes. Noonan syndrome is the most prevalent RASopathy, with an estimated incidence of 1 in 2500 live births, and…
Perceptions and Expectations of Youth Regarding the Respect for Their Rights in the Hospital
Information obtained from children themselves regarding the characteristics of the ideal hospital that ensure well-being during a hospital stay is scarce. Here, we report the opinions, perceptions, and expectations of 700 children and adolescents about their experiences, assessed through a mixed-method research approach with age-appropriate questionnaires, three open-ended questions, and an analysis of optional pictorial and textual narratives. M…
Unusual Onset of Hereditary Hemorrhagic Telangiectasia Due to Somatic Mutational Mosaicism
Hereditary Hemorrhagic Telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is a disorder of angiogenesis characterized by mucocutaneous telangiectasias and visceral arteriovenous malformations. This rare autosomal dominant disorder is caused by pathogenic variants in the ENG and ACVRL1 genes, and only 1-3% of case variants occur in SMAD4 . HHT clinical manifestations include telangiectasias, epistaxis, and arteriovenous malformations …
Medicine (2 works) · ACVRL1 (1 works) · Anger (1 works) · Biology (1 works) · Cardiology (1 works) · Child and Adolescent Health (1 works) · Childhood Cancer Survivors' Quality of Life (1 works) · Chylothorax (1 works) · Cognition (1 works) · Context (archaeology (1 works)