PORFIRIO, BERARDINO
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 6.841
EU - Europa 5.036
AS - Asia 837
AF - Africa 30
SA - Sud America 7
OC - Oceania 4
Totale 12.755
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 6.819
RU - Federazione Russa 1.451
PL - Polonia 1.039
IT - Italia 726
IE - Irlanda 513
SE - Svezia 469
SG - Singapore 274
UA - Ucraina 264
DE - Germania 218
HK - Hong Kong 199
CN - Cina 143
FI - Finlandia 140
GB - Regno Unito 84
IN - India 82
TR - Turchia 61
CH - Svizzera 55
JO - Giordania 43
FR - Francia 36
CI - Costa d'Avorio 19
CA - Canada 17
VN - Vietnam 16
ES - Italia 10
KR - Corea 9
NL - Olanda 9
SC - Seychelles 8
BE - Belgio 7
BG - Bulgaria 5
CO - Colombia 5
MX - Messico 5
JP - Giappone 4
RO - Romania 4
MU - Mauritius 3
MY - Malesia 3
NZ - Nuova Zelanda 3
AE - Emirati Arabi Uniti 1
AT - Austria 1
AU - Australia 1
BR - Brasile 1
CZ - Repubblica Ceca 1
DK - Danimarca 1
GR - Grecia 1
ID - Indonesia 1
IR - Iran 1
LT - Lituania 1
NO - Norvegia 1
PE - Perù 1
Totale 12.755
Salva come PNG Salva come JPEG
Città #
Santa Clara 1.039
Warsaw 1.039
Fairfield 832
Chandler 529
Dublin 513
Jacksonville 417
Ashburn 403
Woodbridge 356
Cambridge 346
Seattle 343
Houston 283
Wilmington 281
Singapore 227
Florence 162
Princeton 145
Lawrence 141
Ann Arbor 139
Altamura 133
Boston 116
Hong Kong 89
Buffalo 88
Boardman 85
Mumbai 76
Beijing 56
Bern 52
Izmir 50
Medford 49
Moscow 49
Milan 46
Shanghai 46
San Diego 36
New York 26
Norwalk 24
Abidjan 19
Dong Ket 16
Helsinki 16
Auburn Hills 15
Falls Church 15
Dearborn 14
Hillsboro 14
London 14
Los Angeles 14
Kent 13
Toronto 13
Andover 12
Rome 12
Redwood City 11
Washington 11
Torino 10
Verona 10
Frankfurt Am Main 9
Barcelona 7
Phoenix 7
Bagno A Ripoli 6
Bremen 6
Cinisello Balsamo 6
Yubileyny 6
Arezzo 5
Bologna 5
Genoa 5
Guangzhou 5
Laurel 5
Seocho-gu 5
Sofia 5
Brussels 4
Cagliari 4
Genova 4
Munich 4
Nanjing 4
Parma 4
Pontedera 4
Turin 4
West Jordan 4
Acton 3
Casalgrande 3
Chennai 3
Medellín 3
Monza 3
Naaldwijk 3
Palo Alto 3
Philadelphia 3
Piombino 3
Poggibonsi 3
Prescot 3
Vieste 3
Zurich 3
Albany 2
Auckland 2
Bari 2
Bogotá 2
Campagnano Di Roma 2
Campofilone 2
Cardiff 2
Catania 2
Cerbaia 2
Cluj-Napoca 2
Como 2
Ergolding 2
Fuzhou 2
Grezzana 2
Totale 8.630
Salva come PNG Salva come JPEG
Nome #
A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria 269
Sequence diversity within the HA-1 gene as detected by melting temperature assay without oligonucleotide probes 253
Stem cell-based regenerative medicine in Huntington’s disease: is fetal striatal grafting passing the baton? A commentary on “Differentiation of pluripotent stem cells into striatal projection neurons: a pure MSN fate may not be sufficient” 251
Large-sized Fetal Striatal Grafts in Huntington’s Disease Do Stop Growing. Long-term Monitoring in the Florence Experience. 246
Fetal striatal grafting slows motor and cognitive decline of Huntington's disease 246
Aβ clearance, “hub” of multiple deficiencies leading to Alzheimer disease 221
Donor-specific anti-HLA antibodies in Huntington’s disease recipients of human fetal striatal grafts 207
Glaucoma in patients with shunt-treated normal pressure hydrocephalus 195
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification 166
Genetica umana: una raccolta di 1000 esercizi con glossario 151
Accuracy and safety of 1-day external lumbar drainage of CSF for shunt selection in patients with idiopathic normal pressure hydrocephalus 140
Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in Italy 134
A method for point mutation analysis that links SSCP and dye primer fluorescent sequencing. 131
ALKAPTONURIA, OCHRONOSIS, AND OCHRONOTIC ARTHROPATHY 129
Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection 128
A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency 124
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation 121
Functional polymorphisms of the microsomal epoxide hydrolase gene: a reappraisal on a early-onset lung cancer patients series. 120
Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene 119
Mutazioni del gene p53 e risposta alla radioterapia in Tumori Testa-Collo 119
Genotype-related fingerprints from HLA-DPB1 exon 2 low-stringency PCR 118
Fibroblast growth factor and endothelin-1 receptors mediate the response of human striatal precursor cells to hypoxia. 115
Human striatal neuroblasts develop and build a striatal-like structure into the brain of Huntington's disease patients after transplantation. 114
Le caratteristiche HLA della popolazione Italiana: analisi di 370.000 volontari iscritti all'IBMDR 113
Are disproportionate subarachnoid spaces and stroke history predictors of external lumbar drainage outcome in iNPH? 112
The development of multiple arbitrary amplicon profiling (MAAP) techniques 111
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy 111
Lack of association between the HLA-DRB1 locus and post-streptococcal reactive arthritis and acute rheumatic fever in italian children 107
A live infant with trisomy 14 mosaicism and nuclear abnormalities of the neutrophils. 107
Re: Fast circulation of cerebrospinal fluid: an alternative perspective on the protective role of high intracranial pressure in ocular hypertension. 107
Sister-chromatid exchanges in human lymphocytes exposed to 1-p-(3-methyltriazeno)benzoic acid potassium salt. 105
Multifaceted roles of BDNF and FGF2 in human striatal primordium development. An in vitro study. 105
The Metabonomic Signature of Celiac Disease. 103
Role of P53 gene mutations and bcl-2 oncoprotein expression in radiodermatitis and radiation induced cutaneous carcinomas of the head and neck area 103
Bcl-2 Overexpression And Smoking History In Head And Neck-Cancer 103
Human Striatum Remodelling after Neurotransplantation in Huntington's Disease. 101
Retrospective analysis of 77 patients with ovarian cancer undergoing genetic testing for BRCA1 and BRCA2 mutations 100
A Comment on “Juvenile-onset Normal Tension Glaucoma From Chronic, Recurrent Low Cerebrospinal Fluid Pressure.” J Glaucoma. 2016;25: e738–e740 98
Mutation and polymorphism analysis of the human homogentisate 1,2-dioxygenase gene in alkaptonuria patients. 97
Chromosome breakage induced by bleomycin in an ataxia telangiectasia lymphoblastoid line: correlation with fragile sites and Epstein-Barr virus DNA localization. 96
Cytogenetic effects of 1-p-(3-methyltriazeno)benzoic acid potassium salt on human lymphocytes in vitro. 96
Genetic STRs variation in a large population from Tuscany (Italy) 96
Radiation-induced cutaneous carcinoma of the head and neck: is there an early role for p53 mutations? 95
Development of a quantitative real time PCR assay for chimerism monitoring after sex-mismatched stem cell transplantation. Haematologica 91(s3) 2006, p. 20. 95
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation 95
Epstein-Barr virus infection and p53 expression in HIV-related oral large B cell lymphoma 94
FATAL HYPERTROPHIC CARDIOMYOPATHY AND NEMALINE MYOPATHY ASSOCIATED WITH ACTA1 K336E MUTATION 93
Breakpoint distribution in constitutional chromosome rearrangements with respect to fragile sites. 93
Partial correction of chromosome instability in Fanconi anemia by desferrioxamine. 93
Hypersensitivity Of Lymphoblastoid Lines Derived From Ataxia-Telangiectasia Patients To The Induction Of Chromosomal-Aberrations By Etoposide (VP-16) 93
Aspetti citogenetici e molecolari dei meccanismi di riparazione del DNA nell'anemia di Fanconi e relazione tra fenomeni riparativi, eventi mutazionali e trasformazione neoplastica 92
Patients with different lung cancers show normal expression of fra(3)(p14.2) in aphidicolin-treated lymphocyte cultures. 92
Normal tension glaucoma in CSF-shunted normal pressure hydrocephalus patients. An extended follow-up 92
Variable response to the diepoxybutane test in two dizygotic twins with Fanconi's anemia and flow cytometry for diagnosis confirmation 91
Collaborative study on the polymorphism of the D1S80 locus in the Italian population 91
Trapianto intracerebrale di striato fetale nella malattia di Huntington: un aggiornamento dell'esperienza clinica italiana 90
Specific sites for EBV association in the Namalwa Burkitt lymphoma cell line and in a lymphoblastoid line transformed in vitro with EBV. 90
Potential biomarkers in predicting progression of epithelial hyperplastic lesions of the larynx 89
ALPHA-ACTIN GENE MUTATIONS AND POLYMORPHISMS IN ITALIAN PATIENTS WITH NEMALINE MYOPATHY. 89
[Spontaneous regression of lung metastases from renal cell carcinoma: the importance of immunogenetic factors and a review of the literature] 88
The distribution of MspI-induced breaks in human lymphocyte chromosomes and its relationship to common fragile sites. 88
Failure of diepoxybutane to enhance sister chromatid exchange levels in Fanconi's anemia patients and heterozygotes. 88
Influence of calcium-sensing receptor gene on urinary calcium excretion in stone-forming patients. 87
Structural Chromosomal Rearrangements In HpaII-Treated Human Lymphocytes 87
High resolution melting analysis of deletion/insertion polymorphisms: A new method for the detection and quantification of mixed chimerism in allogeneic stem cell transplantation 87
Detection of BRCA1 and BRCA2 variants in circulating free DNA by using a commercial kit 87
Effect of oxidants and antioxidants on chromosomal breakage in Fanconi anemia lymphocytes. 86
Ring 20 chromosome phenotype. 86
Common fragile sites: their prevalence in subjects with constitutional and acquired chromosomal instability. 86
Aqueductal CSF stroke volume measurements may drive management of shunted idiopathic normal pressure hydrocephalus patients 86
HLA-B44 subtypes and the chance of finding compatible donor/recipient pairs for bone marrow transplantation: a haplotype study of 303 Italian families. 84
Expression Of Aphidicolin-Induced Fragile Sites In Lymphocytes Of Patients With Breast Cancer 84
Shared-epitope HLA-DRB1 alleles and sex ratio in Italian patients with rheumatoid arthritis 84
Workshop report: extending the number of resources and bioinformatics analysis for the investigation of HLA rare alleles 84
The effect of aphidicolin on Fanconi's anemia lymphocyte chromosomes. 83
The conundrum of HLA-DRB1*14:01/*14:54 and HLA-DRB3*02:01/*02:02 mismatches in unrelated hematopoietic SCT. 83
Tag SNPs of the ancestral haplotype 57.1 do not substitute HLA-B*57:01 typing for eligibility to abacavir treatment in the Italian population 83
Sister-Chromatid Exchanges In Cultured Amniocytes Exposed To Diagnostic Ultrasound In-Vitro 82
Caratteri multifattoriali 81
A new and simple method for HLA-B*5701 screening before abacavir treatment 81
Patients with different lung cancers show normal expression of aphidicolin-induced fra(3p14.2) in their normal cultured lymphocytes 81
Possible graft vs neuroblastoma effect after haplo-transplantation and donor lymphocyte infusions 80
Eredità. Principi e problematiche della genetica umana 80
DE NOVO ALPHA-ACTIN MUTATIONS IN MONOZYGOTIC TWINS 79
Possible graft versus neuroblastoma effect after partially matched related haematopoietic transplantation 79
Timing of fra(3)(p14.2)-induction in lymphocyte cultures 78
Genetic substructure of the Italian population at the VNTR loci D1S80 and D17S30: the Tuscan region 78
HpaII induces chromosomal rearrangements in human lymphocytes 77
Early-onset malignant phyllodes breast tumor in a patient with germline pathogenic variants in NF1 and BRCA1 genes 77
A mutant actin (Lys336Glu) in a patient with nemaline myopathy and hypertrophic cardiomyopathy 76
Alkaptonuria 75
Schwannomatosis associated schwannomas show a different NF2 mutational spectrum compared to Neurofibromatosis type 2 patients 75
Immunohistochemical vs molecular biology methods. Complementary techniques for effective screening of p53 alterations in head and neck cancer. 74
Anatomical remodelling of human striatum after neural transplantation in Huntington's disease 74
Definition of the minor histocompatibility antigen HA-1 73
Loss of p53 Gene Mutation after Irradiation Is Associated with Increased Aggressiveness in Recurring Head and Neck Cancer 73
The distribution of KIR-HLA functional blocks is different from North to South of Italy 73
A Comment on the “Progression of Normal-tension Glaucoma After Ventriculoperitoneal Shunt to Decrease Cerebrospinal Fluid Pressure”. J Glaucoma. 2016;25:e50–e52 72
Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) 72
Decreased mutagenicity in Fanconi's anemia lymphoblasts following treatment with photoactivated psoralens. 71
Totale 10.657
Salva come PNG Salva come JPEG
Categoria #
all - tutte 36.224
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 36.224
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.455 0 0 0 0 211 261 205 275 185 106 181 31
2020/20211.362 105 90 119 129 38 195 45 120 107 212 64 138
2021/2022915 41 97 76 68 20 24 35 61 22 33 200 238
2022/20232.220 231 396 70 145 182 427 279 107 232 24 54 73
2023/2024830 50 110 156 50 63 123 45 122 25 29 34 23
2024/20253.266 193 560 328 830 1.355 0 0 0 0 0 0 0
Totale 12.837