IC
Isabella Ceccherini
Istituto Giannina Gaslini, University of Ferrara, University of Pisa
Research areas: Medicine · Surgery · Congenital gastrointestinal and neural anomalies · Immunodeficiency and Autoimmune Disorders · Genomics and Rare Diseases
0000-0001-8732-1955
Employment
- 2018 - Present
-
Istituto Giannina Gaslini Dirigente Sanitario non medico1988 - Present
Education
- 1983 - 1987
- 1977 - 1982
Projects & Funding
Projects & funding information is unavailable.
Publications (241)
- ABCC6 Heterozygosity as Genetic Predisposition to Cerebrovascular Disease Across Ages Save
- Genetic Landscape of Non-Remitting Neutropenia in Children and Chronic Idiopathic Neutropenia in Adults Save
- Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene Save
- The Impact of Experimental Conditions on Cell Mechanics as Measured with Nanoindentation Save
- Autoimmune Neutropenia and Immune-Dysregulation in a Patient Carrying a TINF2 Variant Save
- Genotype-Phenotype Correlation and Functional Insights for Two Monoallelic TREX1 Missense Variants Affecting the Catalytic Core Save
- The Genetic Landscape of Patent Foramen Ovale: A Systematic Review Save
- Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients Save
- A Common 3′UTR Variant of the PHOX2B Gene Is Associated With Infant Life-Threatening and Sudden Death Events in the Italian Population Save
- A young female with early onset arthritis, uveitis, hepatic, and renal granulomas: a clinical tryst with Blau syndrome over 20 years and case-based review Save
- Congenital anomalies of the kidney and urinary tract in a cohort of 280 consecutive patients with Hirschsprung disease Save
- Dysregulation in B-cell responses and T follicular helper cell function in ADA2 deficiency patients Save
- Hemolysis and neurologic impairment in PAMI syndrome: Novel characteristics of an elusive disease Save
- Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction Save
- Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience Save
- The association among pyoderma gangrenosum, ulcerative colitis, and hidradenitis suppurativa and the syndromic hidradenitis suppurativa network: A case report Save
- The osmr gene is involved in hirschsprung associated enterocolitis susceptibility through an altered downstream signaling Save
- A case report of a novel compound heterozygous mutation in a Brazilian patient with deficiency of Interleukin-1 receptor antagonist (DIRA) Save
- A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease Save
- A novel knock-in mouse model of cryopyrin-associated periodic syndromes with development of amyloidosis: Therapeutic efficacy of proton pump inhibitors Save