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

PRONTERA, PAOLO
 Distribuzione geografica
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Continente #
NA - Nord America 1.967
AS - Asia 1.675
EU - Europa 1.346
SA - Sud America 300
AF - Africa 55
Continente sconosciuto - Info sul continente non disponibili 4
OC - Oceania 3
Totale 5.350
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Nazione #
US - Stati Uniti d'America 1.906
SG - Singapore 770
CN - Cina 256
IE - Irlanda 244
HK - Hong Kong 238
BR - Brasile 219
IT - Italia 212
VN - Vietnam 181
RU - Federazione Russa 180
UA - Ucraina 148
DE - Germania 145
FI - Finlandia 102
FR - Francia 98
KR - Corea 59
GB - Regno Unito 47
SE - Svezia 39
CA - Canada 29
AR - Argentina 28
IN - India 28
AT - Austria 24
IQ - Iraq 19
BD - Bangladesh 18
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
HN - Honduras 3
JO - Giordania 3
PH - Filippine 3
SN - Senegal 3
AM - Armenia 2
AU - Australia 2
DO - Repubblica Dominicana 2
GT - Guatemala 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 5.350
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Città #
Singapore 567
Chandler 249
Dublin 241
Hong Kong 238
San Jose 186
Ashburn 120
San Mateo 96
Boardman 94
Jacksonville 81
Beijing 76
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
Wilmington 38
Los Angeles 37
Helsinki 36
Ho Chi Minh City 34
Turku 29
New York 26
Andover 25
The Dalles 25
Hanoi 22
Des Moines 21
São Paulo 19
Nuremberg 18
Piscataway 17
Brussels 15
Frankfurt am Main 15
London 14
Brooklyn 13
Montreal 13
Tokyo 13
Columbus 12
San Paolo di Civitate 12
Vienna 12
Bucharest 11
Dallas 11
Denver 11
Orem 11
Redwood City 11
Stockholm 11
Saint Petersburg 10
Boston 9
Da Nang 9
Florence 9
Norwalk 9
Atlanta 8
Johannesburg 8
Warsaw 8
Izmir 7
Santiago 7
Toronto 7
Baghdad 6
Chennai 6
Council Bluffs 6
Falls Church 6
Haiphong 6
Hefei 6
Phoenix 6
Redmond 6
Rio de Janeiro 6
Rome 6
Tashkent 6
Amsterdam 5
Dearborn 5
Erbil 5
Goiânia 5
Houston 5
Mexico City 5
Nairobi 5
West Jordan 5
Woodbridge 5
Auburn Hills 4
Baku 4
Brasília 4
Buenos Aires 4
Campinas 4
Caracas 4
Fremont 4
Jakarta 4
Lahore 4
Lappeenranta 4
Lima 4
Montevideo 4
Roubaix 4
San Francisco 4
Seattle 4
Secaucus 4
Shanghai 4
Shenzhen 4
Abu Dhabi 3
Totale 3.448
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Nome #
Stem cells from human amniotic fluid exert immunoregulatory function via secreted indoleamine 2,3-dioxygenase1 226
ISOLAMENTO E CARATTERIZZAZIONE MOLECOLARE DI CELLULE STAMINALI MESENCHIMALI UMANE DA LIQUIDO AMNIOTICO 150
Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism 133
Occurrence of the same chromosome abnormalities in Ph+ and Ph- cells in chronic myeloid leukaemia. Evidence of a secondary origin of the Ph chromosome? 129
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. 126
Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin. 119
A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy. 119
Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation 119
Lethal and non-lethal GLIS1 related malformation syndromes 113
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 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 104
Deletion 2p15-16.1 syndrome: Case Report and Review 101
Imerslund-Gräsbeck syndrome in an infant with a novel intronic variant in the AMN gene: A case report 101
A53T in a parkinsonian family: a clinical update of the SNCA phenotypes 100
Heterozygous X-linked adrenoleukodystrophy-associated myelopathy mimicking primary progressive multiple sclerosis 99
A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline 97
Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly. 95
A novel mutation in the SDHD gene responsible for familial paraganglioma. Medical and psychological implications. 94
Aicardi Syndrome Associated with Autosomal Genomic Imbalance: Coincidence or Evidence for Autosomal Inheritance with Sex-Limited Expression? 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. 85
Identification of a dna methylation episignature in the 22q11.2 deletion syndrome 85
Seizure aggravation caused by antiepileptic drugs in a patient with muscle-eye-brain disease. 84
FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3-q28 in a male and his mother. 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
Familial pericentric inversion of chromosome 18: intrafamilial variability of the recombinant dup(18q). 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
Epileptogenic brain malformations and mutations in tubulin genes: A case report and review of the literature 82
A rare case of brachyolmia with amelogenesis imperfecta caused by a new pathogenic splicing variant in ltbp3 81
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
MBOAT7 encephalopathy: Characterizing the neurology and epileptology 76
Blood cell mitochondrial DNA content and premature ovarian aging 76
Epm2aR240X knock-in mice present earlier cognitive decline and more epileptic activity than Epm2a-/- mice 75
Prenatal diagnosis and molecular characterization of an interstitial 1q24.3-31.3 deletion: case report and review. 75
Clinical features and outcome of 6 new patients carrying de novoKCNB1gene mutations 75
Migraine and epilepsy: what value today? 75
Hot water epilepsy and Mccune-Albright syndrome: a case report. 74
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3 74
NFIA haploinsufficiency: case series and literature review 72
Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia. 72
Long-term follow-up in pediatric patients with paroxysmal hypothermia (Shapiro's syndrome) 72
Trisomy 15 mosaicism owing to familial reciprocaltranslocation t(1;15): implication for prenatal diagnosis 71
Genotype–phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia 70
IRF2BPL: A new genotype for progressive myoclonus epilepsies 69
Potassium Current Signature of Neuronal/Glial Progenitors in Amniotic Fluid Stem Cells 68
Clinical and electroencephalographic features of epilepsy in patients with triple X syndrome: A case series 66
Late-onset n-acetylglutamate synthase deficiency: Report of a paradigmatic adult case presenting with headaches and review of the literature 66
Germline PTPN11 mutation affecting exon 8 in a case of syndromic juvenile myelomonocytic leukemia. 61
Obstruction of the tricuspid valve orifice by a huge right atrial myxoma associated with the Carney complex: a case report 60
Genetica Medica 59
Five children with deletions of 1p34.3 encompassing AGO1 and AGO3. 55
Correction to: CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy 52
Xq12-q13.3 DUPLICATION: EVIDENCE OF A RECURRENT SYNDROME 51
A New De Novo Missense Variant of the TET3 Gene in a Patient with Epilepsy and Macrocephaly 49
Contiguous Gene Syndromes and Hearing Loss: A Clinical Report of Xq21 Deletion and Comprehensive Literature Review 48
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 13
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 12
SINEUP-Mediated Overexpression of Endogenous α-Amylase as a Therapeutic Approach in Lafora Disease 2
Totale 5.475
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Categoria #
all - tutte 23.432
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 23.432
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202196 0 0 0 0 0 0 0 0 0 6 23 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
2025/20262.095 176 158 134 282 326 186 330 109 232 162 0 0
Totale 5.475