Distribuzione geografica
Continente #
EU - Europa 7948
Totale 7948
Nazione #
IT - Italia 7948
Totale 7948
Città #
Genova 7193
Rapallo 584
Genoa 171
Totale 7948
Nome #
Combined deficiency of xanthine oxidase and sulphite oxidase due to a deficiency of molybdenum cofactor. 149
Therapy for hereditary nephrogenic diabetes insipidus. 130
Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients 123
Slipped capital femoral epiphysis associated with Rubinstein-Taybi syndrome. 121
Heterozygous mutations of growth hormone receptor gene in children with idiopathic short stature. 115
Congenital pulmonary lymphangiectasia. 111
Pseudolithiasis and intractable hiccups in a boy receiving ceftriaxone. 110
Surgical vs. medical treatment of seizures in hemimegalencephaly. 110
Altered response to stimuli of the AP-1/DNA binding activity in a syndrome of precocious ageing (Geroderma osteodysplastica hereditaria). 110
Reliability assessment of glucose measurement by HemoCue analyser in a neonatal intensive care unit 106
A diagnostic flow chart for non-immune hydrops fetalis. 104
Partial agenesis of corpus callosum in LEOPARD syndrome 104
Microsurgery for treatment of peripheral lymphedema: long-term outcome and future perspectives 103
Asymptomatic intracranial hypertension associated with tetracycline use. 103
Evaluation of tibial osteopathy occurrence in neurofibromatosis type 1 Italian patients. 101
Reliability assessment of glucose measurement by HemoCue analyzer in a neonatal intensive care unit: reply to Dr. Joakim Hagvik 99
Immunohistochemistry in non-immune hydrops fetalis: a single center experience in 79 fetuses 99
Inheritance of Rubinstein-Taybi syndrome. 99
The lymphatics in the pathophysiology of thoracic and abdominal surgical pathology: immunological consequences and the unexpected role of microsurgery 97
Rubinstein-Taybi syndrome and pheochromocytoma 95
Diagnosis and management of primary chylous ascites 93
Microsurgery for lymphedema: clinical research and long-term results 93
Sebaceous nevus syndrome: report of two cases 92
The Genoa experience of prenatal diagnosis in NF1 92
Nuchal translucency and lymphatic system maldevelopment 92
Lymphoscintigraphy in paediatric patients. 91
Peroxisomal acyl-CoA-oxidase deficiency: two new cases 90
Unusual association: Dandy-Walker-like malformation in the Rubinstein-Taybi syndrome 89
The role of lymphoscintigraphy in the diagnosis of lymphedema in Turner syndrome. 88
Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome. 87
Normal polymorphonuclear neutrophil function in a case of glycogen storage disease type Ib. 83
Pediatric lymphedema and correlated syndromes: role of microsurgery 83
Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia 83
X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation. 83
Phenobarbital enhances sister chromatid exchanges in vivo. 82
Congenital fetal and neonatal visceral chylous effusions: neonatal chylothorax and chylous ascites revisited. A multicenter retrospective study. 82
Etiology of nonimmune hydrops fetalis: a systematic review 82
Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients 81
Familial mediterranean fever 81
Are there lymphatic vessels in the placenta? 79
Dynamics of pleural fluid effusion and chylothorax in the fetus and newborn: role of the lymphatic system. 77
Chyliferous vessel pathologies and associated syndromes: Primary chylous ascites 76
Clinical picture of multiple anomalies in a 49,XXXXY patient 73
Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 71
Pulmonary lymphangiectasia. 70
Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected]. 68
Follicular cysts of the mandible. The diagnostic problems 67
Fumarate hydratase deficiency. 66
Lymphatic dysplasias in newborns and children: the role of lymphoscintigraphy 65
Clinical and cytogenetic study of a case of trisomy 1q with familial translocation t(1;5)(q42;p15.3) 64
The role of lymphoscintigraphy in lymphatic dysplasias of the newborns and children 64
Teacher and courses evaluation by attending students in Genoa (Italy) Medical School 63
Lymphoscinitigraphy: its use for surgery decisions 63
Lymphoscintigraphy patterns in newborns and children with congenital lymphatic dysplasia. 61
Prevention and treatment of injuries to the lymphatic system 60
Study of the beta cell function in type I diabetes by the determination of peptide C after glucagon challenge 60
Immunohistochemical studies in a hydroptic fetus with pulmonary lymphangiectasia and trisomy 21. 59
Lymphatic dysplasias of the newborn and children: the role of lymphoscintigraphy 59
The Weaver Smith syndrome 59
Role of the early lymphatic microsurgery in the combined tratment of peripheral lymphedema 57
Fibrodysplasia ossificans progressiva (myositis ossificans progressiva) 55
Congentital lymphatic dysplasias in newborns 53
Linee guida assistenziali nel bambino con patologia metabolica e malformativa - vol III 52
Lymphodysplasia and KRAS mutation: a case report and literature review 52
Selective D2-40 lymphatic endothelium immunoreactivity in developing human fetal skin appendages 51
Persistence of Mullerian derivatives and intestinal lymphangiectasis in two newborn brothers: confirmation of the Urioste syndrome. 51
Nonimmune idiopathic hydrops fetalis and congenital lymphatic displasia 51
La sclerosi tuberosa 50
Paraproteinemia ina case of Hyper IgE syndrome in pediatric age. 50
Radiological case of the month. Sinus pericranii. 49
Karyotype-phenotype correlation in partial trisomy 13. Report of a case due to maternal translocation 48
A case of partial trisomy 4p 47
Immunohistochemical evaluation of fetal lymphatic malformation 47
Thoracic duct and Pecquet cyst dysplasias: clinical patterns, diagnostics, and therapeutical strategies 45
The heterogeneity of oral-facial-digital anomalies. Report of a case of Mohr syndrome 45
Congenital lymphatic dysplasia in Kabuki syndrome: first report of an unusual association 44
Craniosinostosi 44
Cheilognatho-urano-staphyloschisis associated with t(Y;13) 44
Trisomy 22 44
Pituitary dwarfism "Goldnhar like" multiple deformities in a patient with 18p- 43
Behaviour of cholesterol HDL in diabetes mellitus in childhood 42
Lymphodynamics in the fetus and newborn 42
Facio-Femoral syndrome. Description of a case with monolateral femoral hypoplasia 41
Mental retardation with a 46,XX, 9q12+ karyotype 41
Crouzon's syndrome. Description of a case treated surgically in the fifth month of life 40
Picture of the month. Cushing's syndrome due to topical corticosteroids 40
Relationship between cryptorchidism and long Y chromosome 40
Association of NF1 and neuroblastoma in a pediatric case 40
Radiological case of the monthe. Pfeiffer's syndrome 40
ocular changes in rheumatoid arthritis 40
Jarcho-Levin syndrome. Description of a familial case and review of the literature 39
Partial trisomy of the long arm of chromosome 4: a new syndrome 38
Gastrin and celiac disease 38
Interpretation of chromosome Y variants 38
Congenital lymphatic dysplasias: genetics review and resources for the lymphologist. 38
Unusual case of oculo-dento-digital dysplasia 37
Grisel's syndrome in childhood 37
Triploidy 69,XXY 37
Mesenteric cysts in childhood. A case with chilous form 36
Familial hypercjolesterolemia. Study of low density lipoprotein receptors. Treatment with plasmapheresis 36
Totale 6962
Categoria #
all - tutte 11581
article - articoli 10499
book - libri 80
conference - conferenze 731
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 271
Totale 23162

Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2017/2018956 0000 0478 157156 10121385
2018/2019557 011620 7120 173 970164130
2019/20202583 5853146129 257284 382109 191541325108
2020/2021514 23303632 2961 1540 61455488
2021/20221422 16108115152 10264 84406 3112941174
2022/2023754 15811216154 23777 00 0000
Totale 7952