PORFIRIO, BERARDINO
 Distribuzione geografica
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Continente #
NA - Nord America 5.447
EU - Europa 3.728
AS - Asia 562
AF - Africa 11
SA - Sud America 7
OC - Oceania 4
Totale 9.759
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Nazione #
US - Stati Uniti d'America 5.428
PL - Polonia 1.039
IT - Italia 696
IE - Irlanda 513
SE - Svezia 469
UA - Ucraina 264
DE - Germania 216
HK - Hong Kong 198
RU - Federazione Russa 196
CN - Cina 132
FI - Finlandia 128
SG - Singapore 89
GB - Regno Unito 83
TR - Turchia 61
CH - Svizzera 52
JO - Giordania 43
FR - Francia 36
CA - Canada 16
VN - Vietnam 16
ES - Italia 10
KR - Corea 9
SC - Seychelles 8
BE - Belgio 7
NL - Olanda 7
IN - India 6
BG - Bulgaria 5
CO - Colombia 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
PE - Perù 1
Totale 9.759
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Città #
Warsaw 1.039
Fairfield 832
Chandler 529
Dublin 513
Jacksonville 417
Ashburn 398
Woodbridge 356
Cambridge 346
Seattle 343
Houston 283
Wilmington 281
Florence 159
Princeton 145
Lawrence 141
Ann Arbor 139
Altamura 133
Boston 116
Buffalo 88
Hong Kong 88
Boardman 77
Singapore 62
Beijing 55
Bern 52
Izmir 50
Medford 49
Shanghai 45
Milan 41
San Diego 36
New York 26
Norwalk 24
Dong Ket 16
Auburn Hills 15
Falls Church 15
Dearborn 14
Hillsboro 14
London 14
Moscow 14
Kent 13
Toronto 13
Andover 12
Rome 12
Redwood City 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
Bologna 5
Helsinki 5
Laurel 5
Seocho-gu 5
Sofia 5
Brussels 4
Cagliari 4
Genova 4
Guangzhou 4
Nanjing 4
Pontedera 4
Turin 4
West Jordan 4
Acton 3
Casalgrande 3
Chennai 3
Medellín 3
Naaldwijk 3
Philadelphia 3
Piombino 3
Poggibonsi 3
Prescot 3
Vieste 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
Genoa 2
Grezzana 2
Guadalupe 2
Hefei 2
Hellín 2
Hounslow 2
Kreuzfeld 2
Kuantan 2
Lappeenranta 2
Lonigo 2
Lucca 2
Totale 7.247
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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 227
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. 224
Sequence diversity within the HA-1 gene as detected by melting temperature assay without oligonucleotide probes 217
Aβ clearance, “hub” of multiple deficiencies leading to Alzheimer disease 193
Donor-specific anti-HLA antibodies in Huntington’s disease recipients of human fetal striatal grafts 179
Glaucoma in patients with shunt-treated normal pressure hydrocephalus 171
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification 139
Genetica umana: una raccolta di 1000 esercizi con glossario 138
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 111
A method for point mutation analysis that links SSCP and dye primer fluorescent sequencing. 105
ALKAPTONURIA, OCHRONOSIS, AND OCHRONOTIC ARTHROPATHY 104
Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene 94
Le caratteristiche HLA della popolazione Italiana: analisi di 370.000 volontari iscritti all'IBMDR 92
Lack of association between the HLA-DRB1 locus and post-streptococcal reactive arthritis and acute rheumatic fever in italian children 91
Sister-chromatid exchanges in human lymphocytes exposed to 1-p-(3-methyltriazeno)benzoic acid potassium salt. 91
Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection 91
Mutazioni del gene p53 e risposta alla radioterapia in Tumori Testa-Collo 91
A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency 89
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation 88
Functional polymorphisms of the microsomal epoxide hydrolase gene: a reappraisal on a early-onset lung cancer patients series. 87
Genotype-related fingerprints from HLA-DPB1 exon 2 low-stringency PCR 87
Re: Fast circulation of cerebrospinal fluid: an alternative perspective on the protective role of high intracranial pressure in ocular hypertension. 87
A live infant with trisomy 14 mosaicism and nuclear abnormalities of the neutrophils. 86
Bcl-2 Overexpression And Smoking History In Head And Neck-Cancer 86
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy 85
Fibroblast growth factor and endothelin-1 receptors mediate the response of human striatal precursor cells to hypoxia. 85
Mutation and polymorphism analysis of the human homogentisate 1,2-dioxygenase gene in alkaptonuria patients. 84
Chromosome breakage induced by bleomycin in an ataxia telangiectasia lymphoblastoid line: correlation with fragile sites and Epstein-Barr virus DNA localization. 84
The Metabonomic Signature of Celiac Disease. 84
Human striatal neuroblasts develop and build a striatal-like structure into the brain of Huntington's disease patients after transplantation. 83
The development of multiple arbitrary amplicon profiling (MAAP) techniques 82
Breakpoint distribution in constitutional chromosome rearrangements with respect to fragile sites. 81
Cytogenetic effects of 1-p-(3-methyltriazeno)benzoic acid potassium salt on human lymphocytes in vitro. 81
Genetic STRs variation in a large population from Tuscany (Italy) 81
Human Striatum Remodelling after Neurotransplantation in Huntington's Disease. 81
Hypersensitivity Of Lymphoblastoid Lines Derived From Ataxia-Telangiectasia Patients To The Induction Of Chromosomal-Aberrations By Etoposide (VP-16) 78
Are disproportionate subarachnoid spaces and stroke history predictors of external lumbar drainage outcome in iNPH? 78
Multifaceted roles of BDNF and FGF2 in human striatal primordium development. An in vitro study. 78
FATAL HYPERTROPHIC CARDIOMYOPATHY AND NEMALINE MYOPATHY ASSOCIATED WITH ACTA1 K336E MUTATION 77
Radiation-induced cutaneous carcinoma of the head and neck: is there an early role for p53 mutations? 77
Partial correction of chromosome instability in Fanconi anemia by desferrioxamine. 77
Variable response to the diepoxybutane test in two dizygotic twins with Fanconi's anemia and flow cytometry for diagnosis confirmation 76
Ring 20 chromosome phenotype. 74
Role of P53 gene mutations and bcl-2 oncoprotein expression in radiodermatitis and radiation induced cutaneous carcinomas of the head and neck area 74
The distribution of MspI-induced breaks in human lymphocyte chromosomes and its relationship to common fragile sites. 74
Specific sites for EBV association in the Namalwa Burkitt lymphoma cell line and in a lymphoblastoid line transformed in vitro with EBV. 74
A Comment on “Juvenile-onset Normal Tension Glaucoma From Chronic, Recurrent Low Cerebrospinal Fluid Pressure.” J Glaucoma. 2016;25: e738–e740 73
Patients with different lung cancers show normal expression of fra(3)(p14.2) in aphidicolin-treated lymphocyte cultures. 73
Collaborative study on the polymorphism of the D1S80 locus in the Italian population 73
Potential biomarkers in predicting progression of epithelial hyperplastic lesions of the larynx 72
Structural Chromosomal Rearrangements In HpaII-Treated Human Lymphocytes 72
Effect of oxidants and antioxidants on chromosomal breakage in Fanconi anemia lymphocytes. 71
Epstein-Barr virus infection and p53 expression in HIV-related oral large B cell lymphoma 71
Common fragile sites: their prevalence in subjects with constitutional and acquired chromosomal instability. 71
Failure of diepoxybutane to enhance sister chromatid exchange levels in Fanconi's anemia patients and heterozygotes. 71
High resolution melting analysis of deletion/insertion polymorphisms: A new method for the detection and quantification of mixed chimerism in allogeneic stem cell transplantation 70
Sister-Chromatid Exchanges In Cultured Amniocytes Exposed To Diagnostic Ultrasound In-Vitro 69
Expression Of Aphidicolin-Induced Fragile Sites In Lymphocytes Of Patients With Breast Cancer 69
The effect of aphidicolin on Fanconi's anemia lymphocyte chromosomes. 69
Shared-epitope HLA-DRB1 alleles and sex ratio in Italian patients with rheumatoid arthritis 69
Workshop report: extending the number of resources and bioinformatics analysis for the investigation of HLA rare alleles 69
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation 67
Development of a quantitative real time PCR assay for chimerism monitoring after sex-mismatched stem cell transplantation. Haematologica 91(s3) 2006, p. 20. 66
Patients with different lung cancers show normal expression of aphidicolin-induced fra(3p14.2) in their normal cultured lymphocytes 66
Trapianto intracerebrale di striato fetale nella malattia di Huntington: un aggiornamento dell'esperienza clinica italiana 66
Retrospective analysis of 77 patients with ovarian cancer undergoing genetic testing for BRCA1 and BRCA2 mutations 65
The conundrum of HLA-DRB1*14:01/*14:54 and HLA-DRB3*02:01/*02:02 mismatches in unrelated hematopoietic SCT. 64
Timing of fra(3)(p14.2)-induction in lymphocyte cultures 63
Genetic substructure of the Italian population at the VNTR loci D1S80 and D17S30: the Tuscan region 63
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 63
ALPHA-ACTIN GENE MUTATIONS AND POLYMORPHISMS IN ITALIAN PATIENTS WITH NEMALINE MYOPATHY. 62
Eredità. Principi e problematiche della genetica umana 62
HpaII induces chromosomal rearrangements in human lymphocytes 61
Aqueductal CSF stroke volume measurements may drive management of shunted idiopathic normal pressure hydrocephalus patients 61
Immunohistochemical vs molecular biology methods. Complementary techniques for effective screening of p53 alterations in head and neck cancer. 59
A new and simple method for HLA-B*5701 screening before abacavir treatment 58
The distribution of KIR-HLA functional blocks is different from North to South of Italy 57
Influence of calcium-sensing receptor gene on urinary calcium excretion in stone-forming patients. 56
Caratteri multifattoriali 56
Eredità: principi e problematiche della genetica umana 56
Decreased mutagenicity in Fanconi's anemia lymphoblasts following treatment with photoactivated psoralens. 56
Aspetti citogenetici e molecolari dei meccanismi di riparazione del DNA nell'anemia di Fanconi e relazione tra fenomeni riparativi, eventi mutazionali e trasformazione neoplastica 56
[Spontaneous regression of lung metastases from renal cell carcinoma: the importance of immunogenetic factors and a review of the literature] 55
HLA-B44 subtypes and the chance of finding compatible donor/recipient pairs for bone marrow transplantation: a haplotype study of 303 Italian families. 54
Alkaptonuria 54
Normal tension glaucoma in CSF-shunted normal pressure hydrocephalus patients. An extended follow-up 54
DE NOVO ALPHA-ACTIN MUTATIONS IN MONOZYGOTIC TWINS 53
Chromosomal studies in Fanconi anemia heterozygotes 52
Possible graft versus neuroblastoma effect after partially matched related haematopoietic transplantation 52
Detection of BRCA1 and BRCA2 variants in circulating free DNA by using a commercial kit 52
Fanconi's anemia. 51
Possible graft vs neuroblastoma effect after haplo-transplantation and donor lymphocyte infusions 49
Progress in restorative neurosurgery: human fetal striatal transplantation in Huntington's disease. Reviews 48
Early-onset malignant phyllodes breast tumor in a patient with germline pathogenic variants in NF1 and BRCA1 genes 48
Partial Correction Of Chromosome Instability In Fanconi Anemia By Desferrioxamine - Reply 47
A mutant actin (Lys336Glu) in a patient with nemaline myopathy and hypertrophic cardiomyopathy 47
Definition of the minor histocompatibility antigen HA-1 47
Totale 8.405
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Categoria #
all - tutte 30.190
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 30.190
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.884 0 173 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
2023/2024830 50 110 156 50 63 123 45 122 25 29 34 23
2024/2025270 193 77 0 0 0 0 0 0 0 0 0 0
Totale 9.841