PORFIRIO, BERARDINO
 Distribuzione geografica
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Continente #
NA - Nord America 8.981
EU - Europa 6.060
AS - Asia 3.869
SA - Sud America 418
AF - Africa 100
OC - Oceania 95
Continente sconosciuto - Info sul continente non disponibili 1
Totale 19.524
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Nazione #
US - Stati Uniti d'America 8.903
RU - Federazione Russa 1.942
PL - Polonia 1.050
SG - Singapore 1.026
IT - Italia 813
CN - Cina 800
HK - Hong Kong 726
IE - Irlanda 514
SE - Svezia 473
VN - Vietnam 445
KR - Corea 386
BR - Brasile 330
DE - Germania 291
UA - Ucraina 273
FI - Finlandia 198
FR - Francia 176
IN - India 129
GB - Regno Unito 123
AU - Australia 92
NL - Olanda 84
TR - Turchia 75
JP - Giappone 73
CH - Svizzera 56
JO - Giordania 51
CA - Canada 38
AR - Argentina 32
BD - Bangladesh 28
MX - Messico 25
ID - Indonesia 23
CI - Costa d'Avorio 22
ES - Italia 21
IQ - Iraq 18
CO - Colombia 14
ZA - Sudafrica 14
EC - Ecuador 11
NG - Nigeria 11
SA - Arabia Saudita 11
MA - Marocco 10
CL - Cile 9
KE - Kenya 9
SC - Seychelles 9
VE - Venezuela 9
BE - Belgio 8
MY - Malesia 8
NP - Nepal 8
UZ - Uzbekistan 8
PK - Pakistan 6
RO - Romania 6
TN - Tunisia 6
AE - Emirati Arabi Uniti 5
AZ - Azerbaigian 5
BG - Bulgaria 5
CZ - Repubblica Ceca 5
PY - Paraguay 5
TH - Thailandia 5
LT - Lituania 4
PE - Perù 4
PH - Filippine 4
TW - Taiwan 4
UY - Uruguay 4
AT - Austria 3
BH - Bahrain 3
BJ - Benin 3
EG - Egitto 3
HU - Ungheria 3
JM - Giamaica 3
KG - Kirghizistan 3
LY - Libia 3
MU - Mauritius 3
NZ - Nuova Zelanda 3
CR - Costa Rica 2
DK - Danimarca 2
ET - Etiopia 2
HN - Honduras 2
IS - Islanda 2
LB - Libano 2
LK - Sri Lanka 2
MD - Moldavia 2
MN - Mongolia 2
OM - Oman 2
QA - Qatar 2
SN - Senegal 2
SV - El Salvador 2
TT - Trinidad e Tobago 2
AG - Antigua e Barbuda 1
AM - Armenia 1
BN - Brunei Darussalam 1
CY - Cipro 1
DZ - Algeria 1
GA - Gabon 1
GE - Georgia 1
GP - Guadalupe 1
GR - Grecia 1
GT - Guatemala 1
HR - Croazia 1
IL - Israele 1
IR - Iran 1
KZ - Kazakistan 1
MM - Myanmar 1
NO - Norvegia 1
Totale 19.517
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Città #
Santa Clara 1.696
Warsaw 1.050
Fairfield 832
Ashburn 762
Singapore 692
Hong Kong 608
Chandler 529
Dublin 513
Jacksonville 418
Seoul 378
Woodbridge 356
Seattle 351
Cambridge 346
Houston 290
Wilmington 281
San Jose 199
The Dalles 177
Beijing 175
Buffalo 172
Florence 171
Hefei 146
Princeton 145
Lawrence 141
Ann Arbor 139
Altamura 133
Los Angeles 129
Ho Chi Minh City 128
Boston 122
Lauterbourg 119
Hanoi 96
Boardman 85
Melbourne 85
Mumbai 79
Dallas 78
Moscow 76
Tokyo 69
Amsterdam 62
Milan 56
Bern 52
Munich 51
New York 51
Shanghai 51
Izmir 50
Medford 49
Helsinki 46
San Diego 36
Council Bluffs 33
São Paulo 30
Turku 25
Norwalk 24
Da Nang 23
Kent 23
London 22
Haiphong 21
Abidjan 20
Orem 18
Rome 18
Clifton 17
Guangzhou 17
Redondo Beach 17
Dong Ket 16
Jakarta 16
Toronto 16
Auburn Hills 15
Falls Church 15
Dearborn 14
Hillsboro 14
Paris 14
Chicago 13
Andover 12
Brooklyn 12
Chennai 11
Hải Dương 11
Phoenix 11
Redwood City 11
Tianjin 11
Washington 11
Abuja 10
Montreal 10
Torino 10
Verona 10
Frankfurt Am Main 9
Frankfurt am Main 9
Johannesburg 9
Nairobi 9
Rio de Janeiro 9
Amman 8
San Francisco 8
Tashkent 8
Barcelona 7
Belo Horizonte 7
Can Tho 7
Falkenstein 7
Manchester 7
Ankara 6
Bagno A Ripoli 6
Bari 6
Bogotá 6
Bremen 6
Cinisello Balsamo 6
Totale 12.981
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Nome #
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” 412
A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria 345
Sequence diversity within the HA-1 gene as detected by melting temperature assay without oligonucleotide probes 306
Fetal striatal grafting slows motor and cognitive decline of Huntington's disease 297
Large-sized Fetal Striatal Grafts in Huntington’s Disease Do Stop Growing. Long-term Monitoring in the Florence Experience. 294
Aβ clearance, “hub” of multiple deficiencies leading to Alzheimer disease 279
Donor-specific anti-HLA antibodies in Huntington’s disease recipients of human fetal striatal grafts 265
Glaucoma in patients with shunt-treated normal pressure hydrocephalus 253
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification 248
Trapianto intracerebrale di striato fetale nella malattia di Huntington: un aggiornamento dell'esperienza clinica italiana 237
Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection 223
ALKAPTONURIA, OCHRONOSIS, AND OCHRONOTIC ARTHROPATHY 217
Accuracy and safety of 1-day external lumbar drainage of CSF for shunt selection in patients with idiopathic normal pressure hydrocephalus 216
A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency 202
Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in Italy 200
Decreased mutagenicity in Fanconi's anemia lymphoblasts following treatment with photoactivated psoralens. 197
Functional polymorphisms of the microsomal epoxide hydrolase gene: a reappraisal on a early-onset lung cancer patients series. 195
A method for point mutation analysis that links SSCP and dye primer fluorescent sequencing. 189
Genetica umana: una raccolta di 1000 esercizi con glossario 187
Aqueductal CSF stroke volume measurements may drive management of shunted idiopathic normal pressure hydrocephalus patients 187
Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene 182
Are disproportionate subarachnoid spaces and stroke history predictors of external lumbar drainage outcome in iNPH? 179
Fibroblast growth factor and endothelin-1 receptors mediate the response of human striatal precursor cells to hypoxia. 178
A Comment on “Juvenile-onset Normal Tension Glaucoma From Chronic, Recurrent Low Cerebrospinal Fluid Pressure.” J Glaucoma. 2016;25: e738–e740 176
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation 176
Epstein-Barr virus infection and p53 expression in HIV-related oral large B cell lymphoma 174
Lack of association between the HLA-DRB1 locus and post-streptococcal reactive arthritis and acute rheumatic fever in italian children 172
Aspetti citogenetici e molecolari dei meccanismi di riparazione del DNA nell'anemia di Fanconi e relazione tra fenomeni riparativi, eventi mutazionali e trasformazione neoplastica 172
Italian academic system disregards scientific merit in faculty hiring processes 170
Human striatal neuroblasts develop and build a striatal-like structure into the brain of Huntington's disease patients after transplantation. 170
Retrospective analysis of 77 patients with ovarian cancer undergoing genetic testing for BRCA1 and BRCA2 mutations 169
The development of multiple arbitrary amplicon profiling (MAAP) techniques 165
Mutazioni del gene p53 e risposta alla radioterapia in Tumori Testa-Collo 165
Detection of BRCA1 and BRCA2 variants in circulating free DNA by using a commercial kit 165
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy 164
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) 161
Le caratteristiche HLA della popolazione Italiana: analisi di 370.000 volontari iscritti all'IBMDR 160
A live infant with trisomy 14 mosaicism and nuclear abnormalities of the neutrophils. 158
Genotype-related fingerprints from HLA-DPB1 exon 2 low-stringency PCR 158
Case report: A multiple sclerosis patient with imaging features of glymphatic failure benefitted from CSF flow shunting 157
A Comment on the “Progression of Normal-tension Glaucoma After Ventriculoperitoneal Shunt to Decrease Cerebrospinal Fluid Pressure”. J Glaucoma. 2016;25:e50–e52 157
ALPHA-ACTIN GENE MUTATIONS AND POLYMORPHISMS IN ITALIAN PATIENTS WITH NEMALINE MYOPATHY. 155
[Spontaneous regression of lung metastases from renal cell carcinoma: the importance of immunogenetic factors and a review of the literature] 151
Multifaceted roles of BDNF and FGF2 in human striatal primordium development. An in vitro study. 151
Anatomical remodelling of human striatum after neural transplantation in Huntington's disease 150
Normal tension glaucoma in CSF-shunted normal pressure hydrocephalus patients. An extended follow-up 150
Aqueductal CSF stroke volume is associated with the burden of perivascular space enlargement in chronic adult hydrocephalus 147
The Metabonomic Signature of Celiac Disease. 147
Role of P53 gene mutations and bcl-2 oncoprotein expression in radiodermatitis and radiation induced cutaneous carcinomas of the head and neck area 147
Development of a quantitative real time PCR assay for chimerism monitoring after sex-mismatched stem cell transplantation. Haematologica 91(s3) 2006, p. 20. 145
Schwannomatosis associated schwannomas show a different NF2 mutational spectrum compared to Neurofibromatosis type 2 patients 145
Influence of calcium-sensing receptor gene on urinary calcium excretion in stone-forming patients. 143
Re: Fast circulation of cerebrospinal fluid: an alternative perspective on the protective role of high intracranial pressure in ocular hypertension. 141
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation 140
Mutation and polymorphism analysis of the human homogentisate 1,2-dioxygenase gene in alkaptonuria patients. 137
A new and simple method for HLA-B*5701 screening before abacavir treatment 137
FATAL HYPERTROPHIC CARDIOMYOPATHY AND NEMALINE MYOPATHY ASSOCIATED WITH ACTA1 K336E MUTATION 131
Human Striatum Remodelling after Neurotransplantation in Huntington's Disease. 131
Radiation-induced cutaneous carcinoma of the head and neck: is there an early role for p53 mutations? 130
Alkaptonuria 129
A mutant actin (Lys336Glu) in a patient with nemaline myopathy and hypertrophic cardiomyopathy 129
Early-onset malignant phyllodes breast tumor in a patient with germline pathogenic variants in NF1 and BRCA1 genes 129
HLA-B44 subtypes and the chance of finding compatible donor/recipient pairs for bone marrow transplantation: a haplotype study of 303 Italian families. 128
Bcl-2 Overexpression And Smoking History In Head And Neck-Cancer 128
Caratteri multifattoriali 127
Possible graft vs neuroblastoma effect after haplo-transplantation and donor lymphocyte infusions 126
Sister-chromatid exchanges in human lymphocytes exposed to 1-p-(3-methyltriazeno)benzoic acid potassium salt. 125
Genetic STRs variation in a large population from Tuscany (Italy) 125
Chromosome breakage induced by bleomycin in an ataxia telangiectasia lymphoblastoid line: correlation with fragile sites and Epstein-Barr virus DNA localization. 124
Patients with different lung cancers show normal expression of fra(3)(p14.2) in aphidicolin-treated lymphocyte cultures. 124
Cytogenetic effects of 1-p-(3-methyltriazeno)benzoic acid potassium salt on human lymphocytes in vitro. 121
Workshop report: extending the number of resources and bioinformatics analysis for the investigation of HLA rare alleles 121
Possible graft versus neuroblastoma effect after partially matched related haematopoietic transplantation 121
DE NOVO ALPHA-ACTIN MUTATIONS IN MONOZYGOTIC TWINS 120
Loss of p53 Gene Mutation after Irradiation Is Associated with Increased Aggressiveness in Recurring Head and Neck Cancer 119
Specific sites for EBV association in the Namalwa Burkitt lymphoma cell line and in a lymphoblastoid line transformed in vitro with EBV. 119
Hypersensitivity Of Lymphoblastoid Lines Derived From Ataxia-Telangiectasia Patients To The Induction Of Chromosomal-Aberrations By Etoposide (VP-16) 118
High resolution melting analysis of deletion/insertion polymorphisms: A new method for the detection and quantification of mixed chimerism in allogeneic stem cell transplantation 118
Breakpoint distribution in constitutional chromosome rearrangements with respect to fragile sites. 117
Partial correction of chromosome instability in Fanconi anemia by desferrioxamine. 117
A systematic appraisal of the MHC gene variation associated with either autism or schizophrenia 117
[Effects of oxidants and antioxidants on chromosome breaks in Fanconi's anemia] 117
Graft vs. neuroblastoma effect after haploidentical transplantation. 117
Effect of oxidants and antioxidants on chromosomal breakage in Fanconi anemia lymphocytes. 116
Timing of fra(3)(p14.2)-induction in lymphocyte cultures 116
Eredità. Principi e problematiche della genetica umana 116
Variable response to the diepoxybutane test in two dizygotic twins with Fanconi's anemia and flow cytometry for diagnosis confirmation 115
Definition of the minor histocompatibility antigen HA-1 115
Patients with different lung cancers show normal expression of aphidicolin-induced fra(3p14.2) in their normal cultured lymphocytes 115
Low ICP and normal tension glaucoma: optic nerve damage due to barotraumatic factors, failure of CSF dynamics, or both? Response. 115
Collaborative study on the polymorphism of the D1S80 locus in the Italian population 114
Potential biomarkers in predicting progression of epithelial hyperplastic lesions of the larynx 113
Ring 20 chromosome phenotype. 113
Caratteri Multifattoriali 113
Capitolo 10 - Caratteri multifattoriali 112
Failure of diepoxybutane to enhance sister chromatid exchange levels in Fanconi's anemia patients and heterozygotes. 112
Shared-epitope HLA-DRB1 alleles and sex ratio in Italian patients with rheumatoid arthritis 111
Linfoma a grandi cellule B del cavo orale in AIDS: Espressione di p53 in relazione all'infezione da Epstein-Barr virus. 110
Genetic substructure of the Italian population at the VNTR loci D1S80 and D17S30: the Tuscan region 110
10 novel HGD mutations identified in “black bone disease” patients 110
Totale 15.917
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Categoria #
all - tutte 54.592
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 54.592
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021202 0 0 0 0 0 0 0 0 0 0 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
2024/20255.327 193 560 328 830 1.637 565 68 458 222 129 187 150
2025/20264.711 602 819 445 394 598 223 679 240 400 277 34 0
Totale 19.609