# | Title | Journal | Year | Citations |
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1 | ATP is released by monocytes stimulated with pathogen-sensing receptor ligands and induces IL-1β and IL-18 secretion in an autocrine way | Proceedings of the National Academy of Sciences of the United States of America | 2008 | 429 |
2 | Preliminary diagnostic guidelines for macrophage activation syndrome complicating systemic juvenile idiopathic arthritis | Journal of Pediatrics | 2005 | 365 |
3 | Coexpression of CD25 and CD27 identifies FoxP3+ regulatory T cells in inflamed synovia | Journal of Experimental Medicine | 2005 | 332 |
4 | Macrophage activation syndrome as part of systemic juvenile idiopathic arthritis: diagnosis, genetics, pathophysiology and treatment | Genes and Immunity | 2012 | 318 |
5 | Diabetes Insipidus – Diagnosis and Management | Hormone Research in Paediatrics | 2012 | 222 |
6 | Regulation of Human Macrophage M1–M2 Polarization Balance by Hypoxia and the Triggering Receptor Expressed on Myeloid Cells-1 | Frontiers in Immunology | 2017 | 208 |
7 | Etiology of nonimmune hydrops fetalis: A systematic review | American Journal of Medical Genetics, Part A | 2009 | 168 |
8 | HLA-DRB1*11and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis | Proceedings of the National Academy of Sciences of the United States of America | 2015 | 139 |
9 | KCNJ11activating mutations in Italian patients with permanent neonatal diabetes | Human Mutation | 2005 | 131 |
10 | Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications | Annals of the Rheumatic Diseases | 2017 | 123 |
11 | Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV) | Neurology | 2004 | 120 |
12 | EULAR-PReS points to consider for the use of imaging in the diagnosis and management of juvenile idiopathic arthritis in clinical practice | Annals of the Rheumatic Diseases | 2015 | 112 |
13 | Role of IL-1 Beta in the Development of Human TH17 Cells: Lesson from NLPR3 Mutated Patients | PLoS ONE | 2011 | 105 |
14 | Cross-sectional reference data for phalangeal quantitative ultrasound from early childhood to young-adulthood according to gender, age, skeletal growth, and pubertal development | Bone | 2006 | 103 |
15 | Maturity-Onset Diabetes of the Young in Children With Incidental Hyperglycemia: | Diabetes Care | 2009 | 97 |
16 | Synovial and inflammatory diseases in childhood: role of new imaging modalities in the assessment of patients with juvenile idiopathic arthritis | Pediatric Radiology | 2010 | 97 |
17 | Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene | Neuromuscular Disorders | 2003 | 95 |
18 | Fertility preservation for female patients with childhood, adolescent, and young adult cancer: recommendations from the PanCareLIFE Consortium and the International Late Effects of Childhood Cancer Guideline Harmonization Group | Lancet Oncology, The | 2021 | 91 |
19 | Diagnosis and Management of Autoinflammatory Diseases in Childhood | Journal of Clinical Immunology | 2008 | 90 |
20 | Burkholderia cepacia Complex Bacteria from Clinical and Environmental Sources in Italy: Genomovar Status and Distribution of Traits Related to Virulence and Transmissibility | Journal of Clinical Microbiology | 2002 | 87 |
21 | Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH) | European Journal of Endocrinology | 2018 | 84 |
22 | Endocrinological late complications after hematopoietic SCT in children | Bone Marrow Transplantation | 2008 | 81 |
23 | Congenital pulmonary lymphangiectasia | Orphanet Journal of Rare Diseases | 2006 | 80 |
24 | Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type | Molecular Genetics and Metabolism | 2008 | 80 |
25 | A randomised control study comparing the Infant Flow Driver with nasal continuous positive airway pressure in preterm infants | Archives of Disease in Childhood: Fetal and Neonatal Edition | 2001 | 76 |
26 | TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism | Nature Genetics | 2016 | 74 |
27 | Serum Th1 (CXCL10) and Th2 (CCL2) chemokine levels in children with newly diagnosed Type 1 diabetes: a longitudinal study | Diabetic Medicine | 2008 | 71 |
28 | Magnetic resonance imaging of CNS in 15 043 children with GH deficiency in KIGS (Pfizer International Growth Database) | European Journal of Endocrinology | 2013 | 70 |
29 | Age-Period-Cohort Analysis of 1990–2003 Incidence Time Trends of Childhood Diabetes in Italy | Diabetes | 2010 | 69 |
30 | Autophagy contributes to inflammation in patients with TNFR-associated periodic syndrome (TRAPS) | Annals of the Rheumatic Diseases | 2013 | 69 |
31 | Generalized Epilepsy with Febrile Seizures Plus (GEFS+): Clinical Spectrum in Seven Italian Families Unrelated to SCN1A, SCN1B, and GABRG2 Gene Mutations | Epilepsia | 2004 | 67 |
32 | Mutations at the Same Residue (R50) of Kir6.2 (KCNJ11) That Cause Neonatal Diabetes Produce Different Functional Effects | Diabetes | 2006 | 64 |
33 | Clinical and molecular findings in patients with giant axonal neuropathy (GAN) | Neurology | 2004 | 62 |
34 | Reassessment of the Growth Hormone Status in Young Adults with Childhood-Onset Growth Hormone Deficiency: Reappraisal of Insulin Tolerance Testing | Journal of Clinical Endocrinology and Metabolism | 2009 | 58 |
35 | Adult Height in Patients with Permanent Growth Hormone Deficiency with and without Multiple Pituitary Hormone Deficiencies | Journal of Clinical Endocrinology and Metabolism | 2006 | 55 |
36 | NovelGNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy | Human Mutation | 2004 | 52 |
37 | McArdle disease: the mutation spectrum ofPYGMin a large Italian cohort | Human Mutation | 2006 | 52 |
38 | Genetic investigation in an Italian child with an unusual association of atrial septal defect, attributable to a new familial GATA4 gene mutation, and neonatal diabetes due to pancreatic agenesis | Diabetic Medicine | 2010 | 49 |
39 | The Glucagon Test in the Diagnosis of Growth Hormone Deficiency in Children With Short Stature Younger than 6 Years | Journal of Clinical Endocrinology and Metabolism | 2009 | 48 |
40 | Graves Disease in Children: Thyroid-Stimulating Hormone Receptor Antibodies as Remission Markers | Journal of Pediatrics | 2014 | 46 |
41 | Lymphatic Dysplasias in Newborns and Children: The Role of Lymphoscintigraphy | Journal of Pediatrics | 2008 | 44 |
42 | Update on bone density measurements and their interpretation in children and adolescents | Best Practice and Research in Clinical Endocrinology and Metabolism | 2018 | 44 |
43 | Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochromeb gene | Muscle and Nerve | 2003 | 43 |
44 | Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean | Neurogenetics | 2006 | 43 |
45 | Classical and non-classical causes of GH deficiency in the paediatric age | Best Practice and Research in Clinical Endocrinology and Metabolism | 2016 | 43 |
46 | Prevalence and Correlates of Adherence in Children and Adolescents Treated with Growth Hormone: A Multicenter Italian Study | Endocrine Practice | 2017 | 42 |
47 | Disruption of muscle basal lamina in congenital muscular dystrophy with merosin deficiency | Neurology | 1996 | 41 |
48 | Predisposition to infection and SIRS in mitochondrial disorders: 8 years' experience in an academic center | Journal of Allergy and Clinical Immunology: in Practice | 2014 | 39 |
49 | Management of diabetes insipidus and adipsia in the child | Best Practice and Research in Clinical Endocrinology and Metabolism | 2015 | 39 |
50 | The Accuracy of the Glucagon Test Compared to the Insulin Tolerance Test in the Diagnosis of Adrenal Insufficiency in Young Children with Growth Hormone Deficiency | Journal of Clinical Endocrinology and Metabolism | 2010 | 38 |