IRIS
BONIOLI, EUGENIO
 Distribuzione geografica
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Continente #
EU - Europa 9.489
Totale 9.489
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Nazione #
IT - Italia 9.489
Totale 9.489
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Città #
Genova 7.193
Rapallo 1.381
Genoa 835
Vado Ligure 43
Bordighera 37
Totale 9.489
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Nome #
Combined deficiency of xanthine oxidase and sulphite oxidase due to a deficiency of molybdenum cofactor. 162
Therapy for hereditary nephrogenic diabetes insipidus. 141
Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients 138
Slipped capital femoral epiphysis associated with Rubinstein-Taybi syndrome. 135
Asymptomatic intracranial hypertension associated with tetracycline use. 133
Heterozygous mutations of growth hormone receptor gene in children with idiopathic short stature. 129
Altered response to stimuli of the AP-1/DNA binding activity in a syndrome of precocious ageing (Geroderma osteodysplastica hereditaria). 128
Surgical vs. medical treatment of seizures in hemimegalencephaly. 124
Pseudolithiasis and intractable hiccups in a boy receiving ceftriaxone. 122
A diagnostic flow chart for non-immune hydrops fetalis. 117
Congenital pulmonary lymphangiectasia. 116
Reliability assessment of glucose measurement by HemoCue analyser in a neonatal intensive care unit 115
Partial agenesis of corpus callosum in LEOPARD syndrome 114
Immunohistochemistry in non-immune hydrops fetalis: a single center experience in 79 fetuses 112
Inheritance of Rubinstein-Taybi syndrome. 112
Microsurgery for treatment of peripheral lymphedema: long-term outcome and future perspectives 111
Rubinstein-Taybi syndrome and pheochromocytoma 111
Reliability assessment of glucose measurement by HemoCue analyzer in a neonatal intensive care unit: reply to Dr. Joakim Hagvik 107
Microsurgery for lymphedema: clinical research and long-term results 107
Evaluation of tibial osteopathy occurrence in neurofibromatosis type 1 Italian patients. 107
The Genoa experience of prenatal diagnosis in NF1 106
The lymphatics in the pathophysiology of thoracic and abdominal surgical pathology: immunological consequences and the unexpected role of microsurgery 105
Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome. 103
Diagnosis and management of primary chylous ascites 100
The role of lymphoscintigraphy in the diagnosis of lymphedema in Turner syndrome. 99
Sebaceous nevus syndrome: report of two cases 98
Lymphoscintigraphy in paediatric patients. 98
Chyliferous vessel pathologies and associated syndromes: Primary chylous ascites 98
Unusual association: Dandy-Walker-like malformation in the Rubinstein-Taybi syndrome 97
Peroxisomal acyl-CoA-oxidase deficiency: two new cases 97
Nuchal translucency and lymphatic system maldevelopment 97
Are there lymphatic vessels in the placenta? 95
Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia 95
X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation. 95
Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients 94
Normal polymorphonuclear neutrophil function in a case of glycogen storage disease type Ib. 94
Pediatric lymphedema and correlated syndromes: role of microsurgery 94
Clinical picture of multiple anomalies in a 49,XXXXY patient 93
Familial mediterranean fever 92
Follicular cysts of the mandible. The diagnostic problems 91
Congenital fetal and neonatal visceral chylous effusions: neonatal chylothorax and chylous ascites revisited. A multicenter retrospective study. 91
Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 91
Etiology of nonimmune hydrops fetalis: a systematic review 89
Phenobarbital enhances sister chromatid exchanges in vivo. 88
Clinical and cytogenetic study of a case of trisomy 1q with familial translocation t(1;5)(q42;p15.3) 85
Dynamics of pleural fluid effusion and chylothorax in the fetus and newborn: role of the lymphatic system. 82
Pulmonary lymphangiectasia. 78
Teacher and courses evaluation by attending students in Genoa (Italy) Medical School 78
Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected]. 78
Fumarate hydratase deficiency. 78
The role of lymphoscintigraphy in lymphatic dysplasias of the newborns and children 72
Lymphatic dysplasias in newborns and children: the role of lymphoscintigraphy 71
Lymphoscintigraphy patterns in newborns and children with congenital lymphatic dysplasia. 71
The Weaver Smith syndrome 70
Lymphodysplasia and KRAS mutation: a case report and literature review 69
Study of the beta cell function in type I diabetes by the determination of peptide C after glucagon challenge 68
Lymphoscinitigraphy: its use for surgery decisions 67
Lymphatic dysplasias of the newborn and children: the role of lymphoscintigraphy 67
A case of partial trisomy 4p 66
Role of the early lymphatic microsurgery in the combined tratment of peripheral lymphedema 66
Prevention and treatment of injuries to the lymphatic system 66
Paraproteinemia ina case of Hyper IgE syndrome in pediatric age. 66
Craniosinostosi 64
Fibrodysplasia ossificans progressiva (myositis ossificans progressiva) 63
Linee guida assistenziali nel bambino con patologia metabolica e malformativa - vol III 62
La sclerosi tuberosa 61
Immunohistochemical studies in a hydroptic fetus with pulmonary lymphangiectasia and trisomy 21. 61
Congentital lymphatic dysplasias in newborns 61
Imaging findings in pulmonary lymphangiectasia 61
Selective D2-40 lymphatic endothelium immunoreactivity in developing human fetal skin appendages 60
La genetica dell'obesita' 60
Association of NF1 and neuroblastoma in a pediatric case 60
Radiological case of the month. Sinus pericranii. 59
Trisomy 22 58
Thoracic duct and Pecquet cyst dysplasias: clinical patterns, diagnostics, and therapeutical strategies 58
Persistence of Mullerian derivatives and intestinal lymphangiectasis in two newborn brothers: confirmation of the Urioste syndrome. 58
Congenital lymphatic dysplasia in Kabuki syndrome: first report of an unusual association 57
Cheilognatho-urano-staphyloschisis associated with t(Y;13) 57
Five case of cri du chat syndrome 57
Mental retardation with a 46,XX, 9q12+ karyotype 56
Karyotype-phenotype correlation in partial trisomy 13. Report of a case due to maternal translocation 56
A new case of partial trisomy 8p 56
A very rare cause of a deglutition disorder: achalasia of the cricopharyngeal muscle 56
The heterogeneity of oral-facial-digital anomalies. Report of a case of Mohr syndrome 56
Immunohistochemical evaluation of fetal lymphatic malformation 55
Interpretation of chromosome Y variants 54
Pituitary dwarfism "Goldnhar like" multiple deformities in a patient with 18p- 54
Partial trisomy of the long arm of chromosome 4: a new syndrome 53
Behaviour of cholesterol HDL in diabetes mellitus in childhood 53
Lymphodynamics in the fetus and newborn 53
Nonimmune idiopathic hydrops fetalis and congenital lymphatic displasia 53
Guida alla sindrome di Rubinstein-Taybi 53
The Charlie M. syndrome: a new clinical entity? 53
Relationship between cryptorchidism and long Y chromosome 52
Clinical and radiological aspects of hypochondroplasia. Description of 6 cases 52
Facio-Femoral syndrome. Description of a case with monolateral femoral hypoplasia 51
Gastrin and celiac disease 51
Jarcho-Levin syndrome. Description of a familial case and review of the literature 50
ocular changes in rheumatoid arthritis 50
Crouzon's syndrome. Description of a case treated surgically in the fifth month of life 49
Totale 8.172
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Categoria #
all - tutte 24.947
article - articoli 22.614
book - libri 159
conference - conferenze 1.505
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 669
Totale 49.894
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20202.583 58 53 146 129 257 284 382 109 191 541 325 108
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
2024/202548 48 0 0 0 0 0 0 0 0 0 0 0
Totale 9.493