IRIS - Res&Arch Institutional Research Information System - Research & Archive

PRONTERA, PAOLO
 Distribuzione geografica
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Continente #
NA - Nord America 2.035
AS - Asia 1.733
EU - Europa 1.372
SA - Sud America 300
AF - Africa 55
Continente sconosciuto - Info sul continente non disponibili 4
OC - Oceania 3
Totale 5.502
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Nazione #
US - Stati Uniti d'America 1.966
SG - Singapore 780
CN - Cina 262
IE - Irlanda 244
HK - Hong Kong 239
IT - Italia 238
BR - Brasile 219
VN - Vietnam 181
RU - Federazione Russa 180
UA - Ucraina 148
DE - Germania 145
FI - Finlandia 102
FR - Francia 98
BD - Bangladesh 59
KR - Corea 59
GB - Regno Unito 47
SE - Svezia 39
CA - Canada 36
AR - Argentina 28
IN - India 28
AT - Austria 24
IQ - Iraq 19
MX - Messico 18
BE - Belgio 17
RO - Romania 17
TR - Turchia 17
CL - Cile 15
NL - Olanda 14
PL - Polonia 14
ZA - Sudafrica 14
JP - Giappone 13
MA - Marocco 11
UZ - Uzbekistan 11
CO - Colombia 10
ID - Indonesia 9
LT - Lituania 8
PK - Pakistan 8
AE - Emirati Arabi Uniti 7
CH - Svizzera 7
KE - Kenya 7
PE - Perù 7
VE - Venezuela 7
EC - Ecuador 6
ES - Italia 6
CZ - Repubblica Ceca 5
EG - Egitto 5
NP - Nepal 5
SA - Arabia Saudita 5
UY - Uruguay 5
AL - Albania 4
AZ - Azerbaigian 4
DZ - Algeria 4
EU - Europa 4
IL - Israele 4
LB - Libano 4
CR - Costa Rica 3
ET - Etiopia 3
GT - Guatemala 3
HN - Honduras 3
JO - Giordania 3
PH - Filippine 3
SN - Senegal 3
AM - Armenia 2
AU - Australia 2
DO - Repubblica Dominicana 2
JM - Giamaica 2
KG - Kirghizistan 2
LV - Lettonia 2
LY - Libia 2
MY - Malesia 2
OM - Oman 2
PS - Palestinian Territory 2
PY - Paraguay 2
RS - Serbia 2
SK - Slovacchia (Repubblica Slovacca) 2
TN - Tunisia 2
AD - Andorra 1
BB - Barbados 1
BG - Bulgaria 1
BO - Bolivia 1
BY - Bielorussia 1
CG - Congo 1
CI - Costa d'Avorio 1
DK - Danimarca 1
DM - Dominica 1
EE - Estonia 1
IM - Isola di Man 1
LK - Sri Lanka 1
MD - Moldavia 1
MK - Macedonia 1
ML - Mali 1
NZ - Nuova Zelanda 1
QA - Qatar 1
SI - Slovenia 1
SO - Somalia 1
TH - Thailandia 1
Totale 5.502
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Città #
Singapore 568
Chandler 249
Dublin 241
Hong Kong 239
San Jose 203
Ashburn 123
San Mateo 96
Boardman 94
Jacksonville 81
Beijing 78
Santa Clara 76
Perugia 67
Dong Ket 66
Ann Arbor 60
Moscow 60
Munich 59
Seoul 59
Lauterbourg 51
Medford 51
Princeton 51
Altamura 49
Lawrence 42
Los Angeles 41
Wilmington 38
Helsinki 36
Ho Chi Minh City 34
Turku 29
New York 28
Andover 25
The Dalles 25
Hanoi 22
Des Moines 21
São Paulo 19
Nuremberg 18
Piscataway 17
Brussels 15
Frankfurt am Main 15
Brooklyn 14
Dallas 14
London 14
Montreal 13
Tokyo 13
Columbus 12
San Paolo di Civitate 12
Vienna 12
Bucharest 11
Denver 11
Orem 11
Redwood City 11
Stockholm 11
Phoenix 10
Rome 10
Saint Petersburg 10
Toronto 10
Boston 9
Da Nang 9
Florence 9
Norwalk 9
Warsaw 9
Atlanta 8
Johannesburg 8
Izmir 7
Santiago 7
Baghdad 6
Chennai 6
Council Bluffs 6
Falls Church 6
Haiphong 6
Hefei 6
Redmond 6
Rio de Janeiro 6
Tashkent 6
Amsterdam 5
Bologna 5
Dearborn 5
Erbil 5
Goiânia 5
Houston 5
Mexico City 5
Nairobi 5
Seattle 5
West Jordan 5
Woodbridge 5
Auburn Hills 4
Baku 4
Brasília 4
Buenos Aires 4
Campinas 4
Caracas 4
Chicago 4
Fremont 4
Jakarta 4
Lahore 4
Lappeenranta 4
Lima 4
Milan 4
Montevideo 4
Roubaix 4
San Francisco 4
Secaucus 4
Totale 3.497
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Nome #
Stem cells from human amniotic fluid exert immunoregulatory function via secreted indoleamine 2,3-dioxygenase1 227
ISOLAMENTO E CARATTERIZZAZIONE MOLECOLARE DI CELLULE STAMINALI MESENCHIMALI UMANE DA LIQUIDO AMNIOTICO 150
Occurrence of the same chromosome abnormalities in Ph+ and Ph- cells in chronic myeloid leukaemia. Evidence of a secondary origin of the Ph chromosome? 143
Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism 135
Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome. 130
A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy. 121
Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin. 120
Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation 119
Lethal and non-lethal GLIS1 related malformation syndromes 114
Epilepsy in hemiplegic migraine: Genetic mutations and clinical implications 112
Report of a novel SHOX missense variant in a boy with short stature and his mother with Leri-Weill dyschondrosteosis 109
Long-term follow-up in pediatric patients with paroxysmal hypothermia (Shapiro's syndrome) 106
Deletion 2p15-16.1 syndrome: Case Report and Review 105
A Clinical and Molecular Survey of 62 Cystic Fibrosis Patients from Umbria (Central Italy) Disclosing a High Frequency (2.4%) of the 2184insA Allele: Implications for Screening 105
Imerslund-Gräsbeck syndrome in an infant with a novel intronic variant in the AMN gene: A case report 101
Heterozygous X-linked adrenoleukodystrophy-associated myelopathy mimicking primary progressive multiple sclerosis 100
A53T in a parkinsonian family: a clinical update of the SNCA phenotypes 100
A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline 99
MBOAT7 encephalopathy: Characterizing the neurology and epileptology 98
Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly. 95
Aicardi Syndrome Associated with Autosomal Genomic Imbalance: Coincidence or Evidence for Autosomal Inheritance with Sex-Limited Expression? 95
A novel mutation in the SDHD gene responsible for familial paraganglioma. Medical and psychological implications. 94
Shapiro's syndrome: Defining the clinical spectrum of the spontaneous paroxysmal hypothermia syndrome. 91
Pluripotent stem cells from human amniotic fluid and their immunomodulatory properties 90
Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype. 87
Epileptogenic brain malformations and mutations in tubulin genes: A case report and review of the literature 87
Identification of a dna methylation episignature in the 22q11.2 deletion syndrome 87
Seizure aggravation caused by antiepileptic drugs in a patient with muscle-eye-brain disease. 85
FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3-q28 in a male and his mother. 84
Familial pericentric inversion of chromosome 18: intrafamilial variability of the recombinant dup(18q). 84
Brief Report: Functional MRI of a Patient with 7q11.23 Duplication Syndrome and Autism Spectrum Disorder. 84
Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations 83
Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T > A]+[=]"; "p.[Leu1956Gln]+[=]" NSD1 Missense Mutation and Complex Skin Hamartoma 83
A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile 83
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 83
ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection 82
A rare case of brachyolmia with amelogenesis imperfecta caused by a new pathogenic splicing variant in ltbp3 82
Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene 80
Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus. 79
Prenatal diagnosis and molecular characterization of an interstitial 1q24.3-31.3 deletion: case report and review. 78
Blood cell mitochondrial DNA content and premature ovarian aging 76
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3 76
Epm2aR240X knock-in mice present earlier cognitive decline and more epileptic activity than Epm2a-/- mice 75
Hot water epilepsy and Mccune-Albright syndrome: a case report. 75
Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia. 75
Clinical features and outcome of 6 new patients carrying de novoKCNB1gene mutations 75
Migraine and epilepsy: what value today? 75
NFIA haploinsufficiency: case series and literature review 74
Potassium Current Signature of Neuronal/Glial Progenitors in Amniotic Fluid Stem Cells 74
Trisomy 15 mosaicism owing to familial reciprocaltranslocation t(1;15): implication for prenatal diagnosis 72
Genotype–phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia 72
IRF2BPL: A new genotype for progressive myoclonus epilepsies 70
Late-onset n-acetylglutamate synthase deficiency: Report of a paradigmatic adult case presenting with headaches and review of the literature 67
Clinical and electroencephalographic features of epilepsy in patients with triple X syndrome: A case series 66
Germline PTPN11 mutation affecting exon 8 in a case of syndromic juvenile myelomonocytic leukemia. 62
Correction to: CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy 61
Obstruction of the tricuspid valve orifice by a huge right atrial myxoma associated with the Carney complex: a case report 61
Genetica Medica 59
Five children with deletions of 1p34.3 encompassing AGO1 and AGO3. 55
A New De Novo Missense Variant of the TET3 Gene in a Patient with Epilepsy and Macrocephaly 54
Contiguous Gene Syndromes and Hearing Loss: A Clinical Report of Xq21 Deletion and Comprehensive Literature Review 53
Xq12-q13.3 DUPLICATION: EVIDENCE OF A RECURRENT SYNDROME 52
Usmani–Riazuddin Syndrome: Functional Characterization of a Novel c.196G>A Variant in the AP1G1 Gene and Phenotypic Insights Using Zebrafish as a Vertebrate Model 16
Retinoic Acid Induced 1 and Smith–Magenis Syndrome: From Genetics to Biology and Possible Therapeutic Strategies 14
Generation of a human induced pluripotent stem cell line (CIBIOi007-A) from a Lafora disease patient 13
Neuronal hyperexcitability: A key to unraveling hippocampal synaptic dysfunction in Lafora disease 13
SINEUP-Mediated Overexpression of Endogenous α-Amylase as a Therapeutic Approach in Lafora Disease 2
Totale 5.627
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Categoria #
all - tutte 24.902
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 24.902
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202167 0 0 0 0 0 0 0 0 0 0 0 67
2021/2022383 4 65 14 13 17 3 6 119 6 15 48 73
2022/2023822 57 185 16 55 53 82 2 27 299 1 39 6
2023/2024410 27 31 24 8 1 3 107 2 38 11 64 94
2024/20251.032 22 69 49 73 83 62 59 78 161 64 215 97
2025/20262.247 176 158 134 282 326 186 330 109 232 176 89 49
Totale 5.627