PORFIRIO, BERARDINO
 Distribuzione geografica
Continente #
NA - Nord America 5.433
EU - Europa 3.537
AS - Asia 464
AF - Africa 11
OC - Oceania 4
SA - Sud America 1
Totale 9.450
Nazione #
US - Stati Uniti d'America 5.414
PL - Polonia 1.039
IT - Italia 687
IE - Irlanda 513
SE - Svezia 469
UA - Ucraina 264
DE - Germania 216
HK - Hong Kong 198
FI - Finlandia 128
CN - Cina 108
GB - Regno Unito 83
TR - Turchia 61
CH - Svizzera 52
JO - Giordania 43
FR - Francia 33
RU - Federazione Russa 17
CA - Canada 16
SG - Singapore 16
VN - Vietnam 16
ES - Italia 10
KR - Corea 8
SC - Seychelles 8
BE - Belgio 7
NL - Olanda 7
IN - India 6
BG - Bulgaria 5
JP - Giappone 4
RO - Romania 4
MU - Mauritius 3
MX - Messico 3
NZ - Nuova Zelanda 3
MY - Malesia 2
AT - Austria 1
AU - Australia 1
BR - Brasile 1
GR - Grecia 1
ID - Indonesia 1
IR - Iran 1
NO - Norvegia 1
Totale 9.450
Città #
Warsaw 1.039
Fairfield 832
Chandler 529
Dublin 513
Jacksonville 417
Ashburn 397
Woodbridge 356
Cambridge 346
Seattle 343
Houston 283
Wilmington 281
Florence 157
Princeton 145
Lawrence 141
Ann Arbor 139
Altamura 133
Boston 116
Buffalo 88
Hong Kong 88
Boardman 76
Beijing 55
Bern 52
Izmir 50
Medford 49
Milan 40
San Diego 36
Shanghai 35
New York 26
Norwalk 24
Dong Ket 16
Auburn Hills 15
Falls Church 15
Singapore 15
Dearborn 14
Hillsboro 14
London 14
Moscow 14
Toronto 13
Andover 12
Redwood City 11
Rome 11
Washington 11
Torino 10
Verona 10
Frankfurt Am Main 9
Los Angeles 9
Barcelona 7
Phoenix 7
Bagno A Ripoli 6
Bremen 6
Cinisello Balsamo 6
Arezzo 5
Helsinki 5
Laurel 5
Seocho-gu 5
Sofia 5
Bologna 4
Brussels 4
Cagliari 4
Genova 4
Kent 4
Nanjing 4
Pontedera 4
Turin 4
West Jordan 4
Acton 3
Casalgrande 3
Chennai 3
Guangzhou 3
Naaldwijk 3
Philadelphia 3
Piombino 3
Poggibonsi 3
Prescot 3
Vieste 3
Albany 2
Auckland 2
Bari 2
Campagnano Di Roma 2
Campofilone 2
Cardiff 2
Catania 2
Cerbaia 2
Cluj-Napoca 2
Como 2
Ergolding 2
Fuzhou 2
Genoa 2
Grezzana 2
Guadalupe 2
Hefei 2
Hellín 2
Hounslow 2
Kreuzfeld 2
Kuantan 2
Lappeenranta 2
Lonigo 2
Lucca 2
Montespertoli 2
Munich 2
Totale 7.172
Nome #
A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria 239
Fetal striatal grafting slows motor and cognitive decline of Huntington's disease 226
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” 225
Large-sized Fetal Striatal Grafts in Huntington’s Disease Do Stop Growing. Long-term Monitoring in the Florence Experience. 222
Sequence diversity within the HA-1 gene as detected by melting temperature assay without oligonucleotide probes 215
Aβ clearance, “hub” of multiple deficiencies leading to Alzheimer disease 189
Donor-specific anti-HLA antibodies in Huntington’s disease recipients of human fetal striatal grafts 176
Glaucoma in patients with shunt-treated normal pressure hydrocephalus 168
Genetica umana: una raccolta di 1000 esercizi con glossario 137
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification 137
Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in Italy 117
Accuracy and safety of 1-day external lumbar drainage of CSF for shunt selection in patients with idiopathic normal pressure hydrocephalus 110
ALKAPTONURIA, OCHRONOSIS, AND OCHRONOTIC ARTHROPATHY 103
A method for point mutation analysis that links SSCP and dye primer fluorescent sequencing. 103
Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene 92
Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection 90
Lack of association between the HLA-DRB1 locus and post-streptococcal reactive arthritis and acute rheumatic fever in italian children 89
Sister-chromatid exchanges in human lymphocytes exposed to 1-p-(3-methyltriazeno)benzoic acid potassium salt. 89
Mutazioni del gene p53 e risposta alla radioterapia in Tumori Testa-Collo 89
Le caratteristiche HLA della popolazione Italiana: analisi di 370.000 volontari iscritti all'IBMDR 89
A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency 88
Re: Fast circulation of cerebrospinal fluid: an alternative perspective on the protective role of high intracranial pressure in ocular hypertension. 86
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation 85
Functional polymorphisms of the microsomal epoxide hydrolase gene: a reappraisal on a early-onset lung cancer patients series. 84
Bcl-2 Overexpression And Smoking History In Head And Neck-Cancer 84
Genotype-related fingerprints from HLA-DPB1 exon 2 low-stringency PCR 84
A live infant with trisomy 14 mosaicism and nuclear abnormalities of the neutrophils. 83
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy 83
Mutation and polymorphism analysis of the human homogentisate 1,2-dioxygenase gene in alkaptonuria patients. 82
Chromosome breakage induced by bleomycin in an ataxia telangiectasia lymphoblastoid line: correlation with fragile sites and Epstein-Barr virus DNA localization. 82
The Metabonomic Signature of Celiac Disease. 81
Fibroblast growth factor and endothelin-1 receptors mediate the response of human striatal precursor cells to hypoxia. 81
Genetic STRs variation in a large population from Tuscany (Italy) 80
The development of multiple arbitrary amplicon profiling (MAAP) techniques 80
Human striatal neuroblasts develop and build a striatal-like structure into the brain of Huntington's disease patients after transplantation. 80
Breakpoint distribution in constitutional chromosome rearrangements with respect to fragile sites. 79
Human Striatum Remodelling after Neurotransplantation in Huntington's Disease. 79
Cytogenetic effects of 1-p-(3-methyltriazeno)benzoic acid potassium salt on human lymphocytes in vitro. 78
Hypersensitivity Of Lymphoblastoid Lines Derived From Ataxia-Telangiectasia Patients To The Induction Of Chromosomal-Aberrations By Etoposide (VP-16) 77
Multifaceted roles of BDNF and FGF2 in human striatal primordium development. An in vitro study. 77
FATAL HYPERTROPHIC CARDIOMYOPATHY AND NEMALINE MYOPATHY ASSOCIATED WITH ACTA1 K336E MUTATION 76
Partial correction of chromosome instability in Fanconi anemia by desferrioxamine. 76
Radiation-induced cutaneous carcinoma of the head and neck: is there an early role for p53 mutations? 75
Variable response to the diepoxybutane test in two dizygotic twins with Fanconi's anemia and flow cytometry for diagnosis confirmation 75
Are disproportionate subarachnoid spaces and stroke history predictors of external lumbar drainage outcome in iNPH? 75
A Comment on “Juvenile-onset Normal Tension Glaucoma From Chronic, Recurrent Low Cerebrospinal Fluid Pressure.” J Glaucoma. 2016;25: e738–e740 72
The distribution of MspI-induced breaks in human lymphocyte chromosomes and its relationship to common fragile sites. 72
Collaborative study on the polymorphism of the D1S80 locus in the Italian population 72
Ring 20 chromosome phenotype. 71
Patients with different lung cancers show normal expression of fra(3)(p14.2) in aphidicolin-treated lymphocyte cultures. 71
Specific sites for EBV association in the Namalwa Burkitt lymphoma cell line and in a lymphoblastoid line transformed in vitro with EBV. 71
Effect of oxidants and antioxidants on chromosomal breakage in Fanconi anemia lymphocytes. 70
Potential biomarkers in predicting progression of epithelial hyperplastic lesions of the larynx 70
Failure of diepoxybutane to enhance sister chromatid exchange levels in Fanconi's anemia patients and heterozygotes. 70
Epstein-Barr virus infection and p53 expression in HIV-related oral large B cell lymphoma 69
Structural Chromosomal Rearrangements In HpaII-Treated Human Lymphocytes 69
Expression Of Aphidicolin-Induced Fragile Sites In Lymphocytes Of Patients With Breast Cancer 68
Shared-epitope HLA-DRB1 alleles and sex ratio in Italian patients with rheumatoid arthritis 68
Common fragile sites: their prevalence in subjects with constitutional and acquired chromosomal instability. 68
Sister-Chromatid Exchanges In Cultured Amniocytes Exposed To Diagnostic Ultrasound In-Vitro 67
Role of P53 gene mutations and bcl-2 oncoprotein expression in radiodermatitis and radiation induced cutaneous carcinomas of the head and neck area 67
The effect of aphidicolin on Fanconi's anemia lymphocyte chromosomes. 66
Workshop report: extending the number of resources and bioinformatics analysis for the investigation of HLA rare alleles 66
High resolution melting analysis of deletion/insertion polymorphisms: A new method for the detection and quantification of mixed chimerism in allogeneic stem cell transplantation 66
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation 64
Patients with different lung cancers show normal expression of aphidicolin-induced fra(3p14.2) in their normal cultured lymphocytes 63
Trapianto intracerebrale di striato fetale nella malattia di Huntington: un aggiornamento dell'esperienza clinica italiana 63
The conundrum of HLA-DRB1*14:01/*14:54 and HLA-DRB3*02:01/*02:02 mismatches in unrelated hematopoietic SCT. 63
Timing of fra(3)(p14.2)-induction in lymphocyte cultures 62
Retrospective analysis of 77 patients with ovarian cancer undergoing genetic testing for BRCA1 and BRCA2 mutations 62
Development of a quantitative real time PCR assay for chimerism monitoring after sex-mismatched stem cell transplantation. Haematologica 91(s3) 2006, p. 20. 61
HpaII induces chromosomal rearrangements in human lymphocytes 61
ALPHA-ACTIN GENE MUTATIONS AND POLYMORPHISMS IN ITALIAN PATIENTS WITH NEMALINE MYOPATHY. 61
Genetic substructure of the Italian population at the VNTR loci D1S80 and D17S30: the Tuscan region 61
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 61
Eredità. Principi e problematiche della genetica umana 61
Aqueductal CSF stroke volume measurements may drive management of shunted idiopathic normal pressure hydrocephalus patients 60
A new and simple method for HLA-B*5701 screening before abacavir treatment 57
Immunohistochemical vs molecular biology methods. Complementary techniques for effective screening of p53 alterations in head and neck cancer. 56
Caratteri multifattoriali 55
Eredità: principi e problematiche della genetica umana 55
Decreased mutagenicity in Fanconi's anemia lymphoblasts following treatment with photoactivated psoralens. 55
Influence of calcium-sensing receptor gene on urinary calcium excretion in stone-forming patients. 54
The distribution of KIR-HLA functional blocks is different from North to South of Italy 54
Aspetti citogenetici e molecolari dei meccanismi di riparazione del DNA nell'anemia di Fanconi e relazione tra fenomeni riparativi, eventi mutazionali e trasformazione neoplastica 52
HLA-B44 subtypes and the chance of finding compatible donor/recipient pairs for bone marrow transplantation: a haplotype study of 303 Italian families. 51
Alkaptonuria 51
DE NOVO ALPHA-ACTIN MUTATIONS IN MONOZYGOTIC TWINS 51
Fanconi's anemia. 50
Chromosomal studies in Fanconi anemia heterozygotes 50
Detection of BRCA1 and BRCA2 variants in circulating free DNA by using a commercial kit 50
Normal tension glaucoma in CSF-shunted normal pressure hydrocephalus patients. An extended follow-up 50
[Spontaneous regression of lung metastases from renal cell carcinoma: the importance of immunogenetic factors and a review of the literature] 49
Possible graft versus neuroblastoma effect after partially matched related haematopoietic transplantation 49
Possible graft vs neuroblastoma effect after haplo-transplantation and donor lymphocyte infusions 47
A mutant actin (Lys336Glu) in a patient with nemaline myopathy and hypertrophic cardiomyopathy 46
Definition of the minor histocompatibility antigen HA-1 46
Progress in restorative neurosurgery: human fetal striatal transplantation in Huntington's disease. Reviews 46
A Comment on the “Progression of Normal-tension Glaucoma After Ventriculoperitoneal Shunt to Decrease Cerebrospinal Fluid Pressure”. J Glaucoma. 2016;25:e50–e52 46
Partial Correction Of Chromosome Instability In Fanconi Anemia By Desferrioxamine - Reply 45
Totale 8.196
Categoria #
all - tutte 27.309
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 27.309


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019653 0 0 0 0 0 0 0 0 0 0 362 291
2019/20202.038 154 173 53 203 211 261 205 275 185 106 181 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
2023/2024790 50 110 156 50 63 123 45 122 25 29 17 0
Totale 9.531