IRIS
BONIOLI, EUGENIO
 Distribuzione geografica
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Continente #
EU - Europa 10.344
Totale 10.344
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Nazione #
IT - Italia 10.344
Totale 10.344
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Città #
Genova 7.193
Rapallo 1.381
Vado Ligure 898
Genoa 835
Bordighera 37
Totale 10.344
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Nome #
Combined deficiency of xanthine oxidase and sulphite oxidase due to a deficiency of molybdenum cofactor. 169
Therapy for hereditary nephrogenic diabetes insipidus. 147
Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients 144
Asymptomatic intracranial hypertension associated with tetracycline use. 142
Slipped capital femoral epiphysis associated with Rubinstein-Taybi syndrome. 139
Altered response to stimuli of the AP-1/DNA binding activity in a syndrome of precocious ageing (Geroderma osteodysplastica hereditaria). 136
Heterozygous mutations of growth hormone receptor gene in children with idiopathic short stature. 135
Pseudolithiasis and intractable hiccups in a boy receiving ceftriaxone. 128
Surgical vs. medical treatment of seizures in hemimegalencephaly. 128
A diagnostic flow chart for non-immune hydrops fetalis. 126
Congenital pulmonary lymphangiectasia. 121
Reliability assessment of glucose measurement by HemoCue analyser in a neonatal intensive care unit 120
Partial agenesis of corpus callosum in LEOPARD syndrome 117
Microsurgery for treatment of peripheral lymphedema: long-term outcome and future perspectives 117
Immunohistochemistry in non-immune hydrops fetalis: a single center experience in 79 fetuses 117
Inheritance of Rubinstein-Taybi syndrome. 116
Rubinstein-Taybi syndrome and pheochromocytoma 116
Microsurgery for lymphedema: clinical research and long-term results 115
Evaluation of tibial osteopathy occurrence in neurofibromatosis type 1 Italian patients. 114
Reliability assessment of glucose measurement by HemoCue analyzer in a neonatal intensive care unit: reply to Dr. Joakim Hagvik 112
Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome. 111
The lymphatics in the pathophysiology of thoracic and abdominal surgical pathology: immunological consequences and the unexpected role of microsurgery 111
The Genoa experience of prenatal diagnosis in NF1 111
Nuchal translucency and lymphatic system maldevelopment 106
Chyliferous vessel pathologies and associated syndromes: Primary chylous ascites 105
The role of lymphoscintigraphy in the diagnosis of lymphedema in Turner syndrome. 104
Lymphoscintigraphy in paediatric patients. 104
Diagnosis and management of primary chylous ascites 103
Are there lymphatic vessels in the placenta? 103
Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia 103
X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation. 103
Sebaceous nevus syndrome: report of two cases 102
Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients 102
Peroxisomal acyl-CoA-oxidase deficiency: two new cases 102
Pediatric lymphedema and correlated syndromes: role of microsurgery 101
Unusual association: Dandy-Walker-like malformation in the Rubinstein-Taybi syndrome 101
Clinical picture of multiple anomalies in a 49,XXXXY patient 101
Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 100
Normal polymorphonuclear neutrophil function in a case of glycogen storage disease type Ib. 99
Familial mediterranean fever 99
Fumarate hydratase deficiency. 99
Dynamics of pleural fluid effusion and chylothorax in the fetus and newborn: role of the lymphatic system. 97
Congenital fetal and neonatal visceral chylous effusions: neonatal chylothorax and chylous ascites revisited. A multicenter retrospective study. 97
Etiology of nonimmune hydrops fetalis: a systematic review 97
Follicular cysts of the mandible. The diagnostic problems 95
Phenobarbital enhances sister chromatid exchanges in vivo. 94
Clinical and cytogenetic study of a case of trisomy 1q with familial translocation t(1;5)(q42;p15.3) 92
Teacher and courses evaluation by attending students in Genoa (Italy) Medical School 88
Pulmonary lymphangiectasia. 86
Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected]. 85
Paraproteinemia ina case of Hyper IgE syndrome in pediatric age. 81
Lymphoscintigraphy patterns in newborns and children with congenital lymphatic dysplasia. 80
The role of lymphoscintigraphy in lymphatic dysplasias of the newborns and children 78
Lymphodysplasia and KRAS mutation: a case report and literature review 78
Lymphatic dysplasias in newborns and children: the role of lymphoscintigraphy 76
Study of the beta cell function in type I diabetes by the determination of peptide C after glucagon challenge 76
A case of partial trisomy 4p 74
Lymphatic dysplasias of the newborn and children: the role of lymphoscintigraphy 74
Prevention and treatment of injuries to the lymphatic system 74
The Weaver Smith syndrome 74
Lymphoscinitigraphy: its use for surgery decisions 73
Role of the early lymphatic microsurgery in the combined tratment of peripheral lymphedema 71
Craniosinostosi 70
Linee guida assistenziali nel bambino con patologia metabolica e malformativa - vol III 69
Congentital lymphatic dysplasias in newborns 69
Fibrodysplasia ossificans progressiva (myositis ossificans progressiva) 68
La sclerosi tuberosa 68
Association of NF1 and neuroblastoma in a pediatric case 68
Imaging findings in pulmonary lymphangiectasia 68
Immunohistochemical studies in a hydroptic fetus with pulmonary lymphangiectasia and trisomy 21. 67
Selective D2-40 lymphatic endothelium immunoreactivity in developing human fetal skin appendages 66
Cheilognatho-urano-staphyloschisis associated with t(Y;13) 66
La genetica dell'obesita' 66
Mental retardation with a 46,XX, 9q12+ karyotype 65
Trisomy 22 65
Lymphodynamics in the fetus and newborn 65
Radiological case of the month. Sinus pericranii. 65
A new case of partial trisomy 8p 65
A very rare cause of a deglutition disorder: achalasia of the cricopharyngeal muscle 65
Karyotype-phenotype correlation in partial trisomy 13. Report of a case due to maternal translocation 64
Thoracic duct and Pecquet cyst dysplasias: clinical patterns, diagnostics, and therapeutical strategies 64
Persistence of Mullerian derivatives and intestinal lymphangiectasis in two newborn brothers: confirmation of the Urioste syndrome. 64
Clinical and radiological aspects of hypochondroplasia. Description of 6 cases 64
Congenital lymphatic dysplasia in Kabuki syndrome: first report of an unusual association 63
Five case of cri du chat syndrome 63
The heterogeneity of oral-facial-digital anomalies. Report of a case of Mohr syndrome 63
Behaviour of cholesterol HDL in diabetes mellitus in childhood 61
Immunohistochemical evaluation of fetal lymphatic malformation 61
Interpretation of chromosome Y variants 60
Guida alla sindrome di Rubinstein-Taybi 60
Pituitary dwarfism "Goldnhar like" multiple deformities in a patient with 18p- 60
The Charlie M. syndrome: a new clinical entity? 60
Partial trisomy of the long arm of chromosome 4: a new syndrome 58
Relationship between cryptorchidism and long Y chromosome 58
Nonimmune idiopathic hydrops fetalis and congenital lymphatic displasia 58
Triploidy 69,XXY 57
Smith-Lemli-Opitz syndrome. Description of two cases and review of the literature 57
Brachmann-Cornelia de Lange syndrome 57
Facio-Femoral syndrome. Description of a case with monolateral femoral hypoplasia 56
Jarcho-Levin syndrome. Description of a familial case and review of the literature 56
Totale 8.868
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Categoria #
all - tutte 28.816
article - articoli 26.128
book - libri 185
conference - conferenze 1.724
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 779
Totale 57.632
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.940 0 0 0 0 0 284 382 109 191 541 325 108
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
2024/2025903 64 201 133 99 283 123 0 0 0 0 0 0
Totale 10.348