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#TitleJournalYearCitations
1ATP is released by monocytes stimulated with pathogen-sensing receptor ligands and induces IL-1β and IL-18 secretion in an autocrine wayProceedings of the National Academy of Sciences of the United States of America2008429
2Preliminary diagnostic guidelines for macrophage activation syndrome complicating systemic juvenile idiopathic arthritisJournal of Pediatrics2005365
3Coexpression of CD25 and CD27 identifies FoxP3+ regulatory T cells in inflamed synoviaJournal of Experimental Medicine2005332
4Macrophage activation syndrome as part of systemic juvenile idiopathic arthritis: diagnosis, genetics, pathophysiology and treatmentGenes and Immunity2012318
5Diabetes Insipidus – Diagnosis and ManagementHormone Research in Paediatrics2012222
6Regulation of Human Macrophage M1–M2 Polarization Balance by Hypoxia and the Triggering Receptor Expressed on Myeloid Cells-1Frontiers in Immunology2017208
7Etiology of nonimmune hydrops fetalis: A systematic reviewAmerican Journal of Medical Genetics, Part A2009168
8HLA-DRB1*11and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritisProceedings of the National Academy of Sciences of the United States of America2015139
9KCNJ11activating mutations in Italian patients with permanent neonatal diabetesHuman Mutation2005131
10Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implicationsAnnals of the Rheumatic Diseases2017123
11Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)Neurology2004120
12EULAR-PReS points to consider for the use of imaging in the diagnosis and management of juvenile idiopathic arthritis in clinical practiceAnnals of the Rheumatic Diseases2015112
13Role of IL-1 Beta in the Development of Human TH17 Cells: Lesson from NLPR3 Mutated PatientsPLoS ONE2011105
14Cross-sectional reference data for phalangeal quantitative ultrasound from early childhood to young-adulthood according to gender, age, skeletal growth, and pubertal developmentBone2006103
15Maturity-Onset Diabetes of the Young in Children With Incidental Hyperglycemia:Diabetes Care200997
16Synovial and inflammatory diseases in childhood: role of new imaging modalities in the assessment of patients with juvenile idiopathic arthritisPediatric Radiology201097
17Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 geneNeuromuscular Disorders200395
18Fertility 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 GroupLancet Oncology, The202191
19Diagnosis and Management of Autoinflammatory Diseases in ChildhoodJournal of Clinical Immunology200890
20Burkholderia cepacia Complex Bacteria from Clinical and Environmental Sources in Italy: Genomovar Status and Distribution of Traits Related to Virulence and TransmissibilityJournal of Clinical Microbiology200287
21Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH)European Journal of Endocrinology201884
22Endocrinological late complications after hematopoietic SCT in childrenBone Marrow Transplantation200881
23Congenital pulmonary lymphangiectasiaOrphanet Journal of Rare Diseases200680
24Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC typeMolecular Genetics and Metabolism200880
25A randomised control study comparing the Infant Flow Driver with nasal continuous positive airway pressure in preterm infantsArchives of Disease in Childhood: Fetal and Neonatal Edition200176
26TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfismNature Genetics201674
27Serum Th1 (CXCL10) and Th2 (CCL2) chemokine levels in children with newly diagnosed Type 1 diabetes: a longitudinal studyDiabetic Medicine200871
28Magnetic resonance imaging of CNS in 15 043 children with GH deficiency in KIGS (Pfizer International Growth Database)European Journal of Endocrinology201370
29Age-Period-Cohort Analysis of 1990–2003 Incidence Time Trends of Childhood Diabetes in ItalyDiabetes201069
30Autophagy contributes to inflammation in patients with TNFR-associated periodic syndrome (TRAPS)Annals of the Rheumatic Diseases201369
31Generalized Epilepsy with Febrile Seizures Plus (GEFS+): Clinical Spectrum in Seven Italian Families Unrelated to SCN1A, SCN1B, and GABRG2 Gene MutationsEpilepsia200467
32Mutations at the Same Residue (R50) of Kir6.2 (KCNJ11) That Cause Neonatal Diabetes Produce Different Functional EffectsDiabetes200664
33Clinical and molecular findings in patients with giant axonal neuropathy (GAN)Neurology200462
34Reassessment of the Growth Hormone Status in Young Adults with Childhood-Onset Growth Hormone Deficiency: Reappraisal of Insulin Tolerance TestingJournal of Clinical Endocrinology and Metabolism200958
35Adult Height in Patients with Permanent Growth Hormone Deficiency with and without Multiple Pituitary Hormone DeficienciesJournal of Clinical Endocrinology and Metabolism200655
36NovelGNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathyHuman Mutation200452
37McArdle disease: the mutation spectrum ofPYGMin a large Italian cohortHuman Mutation200652
38Genetic 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 agenesisDiabetic Medicine201049
39The Glucagon Test in the Diagnosis of Growth Hormone Deficiency in Children With Short Stature Younger than 6 YearsJournal of Clinical Endocrinology and Metabolism200948
40Graves Disease in Children: Thyroid-Stimulating Hormone Receptor Antibodies as Remission MarkersJournal of Pediatrics201446
41Lymphatic Dysplasias in Newborns and Children: The Role of LymphoscintigraphyJournal of Pediatrics200844
42Update on bone density measurements and their interpretation in children and adolescentsBest Practice and Research in Clinical Endocrinology and Metabolism201844
43Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochromeb geneMuscle and Nerve200343
44Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the MediterraneanNeurogenetics200643
45Classical and non-classical causes of GH deficiency in the paediatric ageBest Practice and Research in Clinical Endocrinology and Metabolism201643
46Prevalence and Correlates of Adherence in Children and Adolescents Treated with Growth Hormone: A Multicenter Italian StudyEndocrine Practice201742
47Disruption of muscle basal lamina in congenital muscular dystrophy with merosin deficiencyNeurology199641
48Predisposition to infection and SIRS in mitochondrial disorders: 8 years' experience in an academic centerJournal of Allergy and Clinical Immunology: in Practice201439
49Management of diabetes insipidus and adipsia in the childBest Practice and Research in Clinical Endocrinology and Metabolism201539
50The Accuracy of the Glucagon Test Compared to the Insulin Tolerance Test in the Diagnosis of Adrenal Insufficiency in Young Children with Growth Hormone DeficiencyJournal of Clinical Endocrinology and Metabolism201038