IRIS
BONIOLI, EUGENIO
 Distribuzione geografica
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Continente #
EU - Europa 10.091
Totale 10.091
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Nazione #
IT - Italia 10.091
Totale 10.091
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Città #
Genova 7.193
Rapallo 1.381
Genoa 835
Vado Ligure 645
Bordighera 37
Totale 10.091
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Nome #
Combined deficiency of xanthine oxidase and sulphite oxidase due to a deficiency of molybdenum cofactor. 167
Therapy for hereditary nephrogenic diabetes insipidus. 145
Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients 141
Asymptomatic intracranial hypertension associated with tetracycline use. 140
Slipped capital femoral epiphysis associated with Rubinstein-Taybi syndrome. 137
Altered response to stimuli of the AP-1/DNA binding activity in a syndrome of precocious ageing (Geroderma osteodysplastica hereditaria). 134
Heterozygous mutations of growth hormone receptor gene in children with idiopathic short stature. 133
Pseudolithiasis and intractable hiccups in a boy receiving ceftriaxone. 126
Surgical vs. medical treatment of seizures in hemimegalencephaly. 126
A diagnostic flow chart for non-immune hydrops fetalis. 124
Congenital pulmonary lymphangiectasia. 120
Reliability assessment of glucose measurement by HemoCue analyser in a neonatal intensive care unit 118
Partial agenesis of corpus callosum in LEOPARD syndrome 116
Microsurgery for treatment of peripheral lymphedema: long-term outcome and future perspectives 115
Immunohistochemistry in non-immune hydrops fetalis: a single center experience in 79 fetuses 115
Inheritance of Rubinstein-Taybi syndrome. 114
Rubinstein-Taybi syndrome and pheochromocytoma 114
Microsurgery for lymphedema: clinical research and long-term results 113
Evaluation of tibial osteopathy occurrence in neurofibromatosis type 1 Italian patients. 111
Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome. 109
The lymphatics in the pathophysiology of thoracic and abdominal surgical pathology: immunological consequences and the unexpected role of microsurgery 109
Reliability assessment of glucose measurement by HemoCue analyzer in a neonatal intensive care unit: reply to Dr. Joakim Hagvik 109
The Genoa experience of prenatal diagnosis in NF1 109
Nuchal translucency and lymphatic system maldevelopment 104
Chyliferous vessel pathologies and associated syndromes: Primary chylous ascites 103
The role of lymphoscintigraphy in the diagnosis of lymphedema in Turner syndrome. 102
Diagnosis and management of primary chylous ascites 102
Lymphoscintigraphy in paediatric patients. 102
Are there lymphatic vessels in the placenta? 101
Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia 101
X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation. 101
Sebaceous nevus syndrome: report of two cases 100
Unusual association: Dandy-Walker-like malformation in the Rubinstein-Taybi syndrome 100
Peroxisomal acyl-CoA-oxidase deficiency: two new cases 100
Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients 99
Pediatric lymphedema and correlated syndromes: role of microsurgery 99
Clinical picture of multiple anomalies in a 49,XXXXY patient 99
Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 98
Normal polymorphonuclear neutrophil function in a case of glycogen storage disease type Ib. 97
Familial mediterranean fever 97
Fumarate hydratase deficiency. 97
Congenital fetal and neonatal visceral chylous effusions: neonatal chylothorax and chylous ascites revisited. A multicenter retrospective study. 95
Etiology of nonimmune hydrops fetalis: a systematic review 95
Follicular cysts of the mandible. The diagnostic problems 93
Dynamics of pleural fluid effusion and chylothorax in the fetus and newborn: role of the lymphatic system. 93
Phenobarbital enhances sister chromatid exchanges in vivo. 92
Clinical and cytogenetic study of a case of trisomy 1q with familial translocation t(1;5)(q42;p15.3) 90
Teacher and courses evaluation by attending students in Genoa (Italy) Medical School 85
Pulmonary lymphangiectasia. 84
Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected]. 82
Paraproteinemia ina case of Hyper IgE syndrome in pediatric age. 79
Lymphoscintigraphy patterns in newborns and children with congenital lymphatic dysplasia. 78
Lymphodysplasia and KRAS mutation: a case report and literature review 76
The role of lymphoscintigraphy in lymphatic dysplasias of the newborns and children 75
Lymphatic dysplasias in newborns and children: the role of lymphoscintigraphy 74
Study of the beta cell function in type I diabetes by the determination of peptide C after glucagon challenge 74
A case of partial trisomy 4p 72
Lymphatic dysplasias of the newborn and children: the role of lymphoscintigraphy 72
The Weaver Smith syndrome 72
Lymphoscinitigraphy: its use for surgery decisions 71
Prevention and treatment of injuries to the lymphatic system 71
Role of the early lymphatic microsurgery in the combined tratment of peripheral lymphedema 69
Craniosinostosi 68
Linee guida assistenziali nel bambino con patologia metabolica e malformativa - vol III 67
Congentital lymphatic dysplasias in newborns 67
Fibrodysplasia ossificans progressiva (myositis ossificans progressiva) 66
La sclerosi tuberosa 66
Association of NF1 and neuroblastoma in a pediatric case 66
Imaging findings in pulmonary lymphangiectasia 66
Immunohistochemical studies in a hydroptic fetus with pulmonary lymphangiectasia and trisomy 21. 65
Selective D2-40 lymphatic endothelium immunoreactivity in developing human fetal skin appendages 64
Cheilognatho-urano-staphyloschisis associated with t(Y;13) 64
La genetica dell'obesita' 63
Trisomy 22 63
Lymphodynamics in the fetus and newborn 63
Radiological case of the month. Sinus pericranii. 63
A new case of partial trisomy 8p 63
A very rare cause of a deglutition disorder: achalasia of the cricopharyngeal muscle 63
Mental retardation with a 46,XX, 9q12+ karyotype 62
Karyotype-phenotype correlation in partial trisomy 13. Report of a case due to maternal translocation 62
Thoracic duct and Pecquet cyst dysplasias: clinical patterns, diagnostics, and therapeutical strategies 62
Persistence of Mullerian derivatives and intestinal lymphangiectasis in two newborn brothers: confirmation of the Urioste syndrome. 62
Clinical and radiological aspects of hypochondroplasia. Description of 6 cases 62
Congenital lymphatic dysplasia in Kabuki syndrome: first report of an unusual association 61
Five case of cri du chat syndrome 61
The heterogeneity of oral-facial-digital anomalies. Report of a case of Mohr syndrome 61
Behaviour of cholesterol HDL in diabetes mellitus in childhood 59
Immunohistochemical evaluation of fetal lymphatic malformation 59
Interpretation of chromosome Y variants 58
Pituitary dwarfism "Goldnhar like" multiple deformities in a patient with 18p- 58
The Charlie M. syndrome: a new clinical entity? 58
Guida alla sindrome di Rubinstein-Taybi 57
Partial trisomy of the long arm of chromosome 4: a new syndrome 56
Relationship between cryptorchidism and long Y chromosome 56
Nonimmune idiopathic hydrops fetalis and congenital lymphatic displasia 56
Triploidy 69,XXY 55
Smith-Lemli-Opitz syndrome. Description of two cases and review of the literature 55
Brachmann-Cornelia de Lange syndrome 55
Facio-Femoral syndrome. Description of a case with monolateral femoral hypoplasia 54
Jarcho-Levin syndrome. Description of a familial case and review of the literature 54
Totale 8.659
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Categoria #
all - tutte 28.460
article - articoli 25.809
book - libri 182
conference - conferenze 1.702
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 767
Totale 56.920
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20202.197 0 0 0 0 257 284 382 109 191 541 325 108
2020/2021514 23 30 36 32 29 61 15 40 61 45 54 88
2021/20221.422 16 108 115 152 102 64 84 406 31 129 41 174
2022/20231.633 158 112 16 154 237 338 0 125 312 16 131 34
2023/2024614 45 102 14 85 29 87 45 50 24 34 33 66
2024/2025650 64 201 133 99 153 0 0 0 0 0 0 0
Totale 10.095