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

PRONTERA, PAOLO
 Distribuzione geografica
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Continente #
NA - Nord America 1.679
AS - Asia 1.328
EU - Europa 1.182
SA - Sud America 230
AF - Africa 22
Continente sconosciuto - Info sul continente non disponibili 4
OC - Oceania 3
Totale 4.448
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Nazione #
US - Stati Uniti d'America 1.630
SG - Singapore 574
IE - Irlanda 240
CN - Cina 235
HK - Hong Kong 233
IT - Italia 197
BR - Brasile 186
UA - Ucraina 144
VN - Vietnam 135
DE - Germania 134
RU - Federazione Russa 119
FI - Finlandia 100
KR - Corea 59
FR - Francia 47
GB - Regno Unito 43
SE - Svezia 39
CA - Canada 26
AT - Austria 23
AR - Argentina 17
BE - Belgio 17
RO - Romania 17
PL - Polonia 14
MX - Messico 13
BD - Bangladesh 11
IN - India 11
IQ - Iraq 11
NL - Olanda 11
TR - Turchia 11
JP - Giappone 10
ZA - Sudafrica 9
CL - Cile 8
LT - Lituania 8
CH - Svizzera 7
ES - Italia 6
ID - Indonesia 6
CZ - Repubblica Ceca 5
EC - Ecuador 5
UY - Uruguay 5
UZ - Uzbekistan 5
AE - Emirati Arabi Uniti 4
EU - Europa 4
MA - Marocco 4
PK - Pakistan 4
CO - Colombia 3
IL - Israele 3
KE - Kenya 3
LB - Libano 3
VE - Venezuela 3
AL - Albania 2
AU - Australia 2
CR - Costa Rica 2
DO - Repubblica Dominicana 2
DZ - Algeria 2
JM - Giamaica 2
JO - Giordania 2
NP - Nepal 2
PY - Paraguay 2
SA - Arabia Saudita 2
SK - Slovacchia (Repubblica Slovacca) 2
AD - Andorra 1
AM - Armenia 1
AZ - Azerbaigian 1
BB - Barbados 1
BG - Bulgaria 1
BY - Bielorussia 1
CI - Costa d'Avorio 1
DM - Dominica 1
EE - Estonia 1
EG - Egitto 1
GT - Guatemala 1
HN - Honduras 1
IM - Isola di Man 1
KG - Kirghizistan 1
LK - Sri Lanka 1
LV - Lettonia 1
ML - Mali 1
MY - Malesia 1
NZ - Nuova Zelanda 1
PE - Perù 1
PS - Palestinian Territory 1
SI - Slovenia 1
SN - Senegal 1
TH - Thailandia 1
Totale 4.448
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Città #
Singapore 381
Chandler 249
Dublin 238
Hong Kong 233
San Mateo 96
Ashburn 94
Boardman 94
Jacksonville 80
Beijing 73
Santa Clara 70
Dong Ket 66
Perugia 62
Ann Arbor 60
Munich 59
Seoul 59
Medford 51
Princeton 51
Altamura 49
Lawrence 42
Wilmington 38
Los Angeles 37
Moscow 36
Helsinki 34
Turku 29
Ho Chi Minh City 26
Andover 25
New York 25
Des Moines 21
Nuremberg 17
Piscataway 16
Brussels 15
São Paulo 15
Hanoi 14
London 14
Montreal 13
The Dalles 13
Brooklyn 12
Columbus 12
San Paolo di Civitate 12
Vienna 12
Bucharest 11
Dallas 11
Redwood City 11
Stockholm 11
Denver 10
Saint Petersburg 10
Tokyo 10
Boston 9
Norwalk 9
Florence 8
Warsaw 8
Atlanta 7
Orem 7
Toronto 7
Falls Church 6
Frankfurt am Main 6
Hefei 6
Izmir 6
Johannesburg 6
Phoenix 6
Redmond 6
Rio de Janeiro 6
Dearborn 5
Goiânia 5
Houston 5
Mexico City 5
West Jordan 5
Woodbridge 5
Auburn Hills 4
Baghdad 4
Brasília 4
Campinas 4
Erbil 4
Fremont 4
Haiphong 4
Lappeenranta 4
Montevideo 4
Roubaix 4
San Francisco 4
Santiago 4
Seattle 4
Secaucus 4
Shanghai 4
Shenzhen 4
Amsterdam 3
Ankara 3
Belo Horizonte 3
Bologna 3
Caxias 3
Chennai 3
Contagem 3
Da Nang 3
Falkenstein 3
Ha Long 3
Jakarta 3
Lausanne 3
Milan 3
Nairobi 3
Palermo 3
Poplar 3
Totale 2.862
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Nome #
Stem cells from human amniotic fluid exert immunoregulatory function via secreted indoleamine 2,3-dioxygenase1 204
ISOLAMENTO E CARATTERIZZAZIONE MOLECOLARE DI CELLULE STAMINALI MESENCHIMALI UMANE DA LIQUIDO AMNIOTICO 145
Occurrence of the same chromosome abnormalities in Ph+ and Ph- cells in chronic myeloid leukaemia. Evidence of a secondary origin of the Ph chromosome? 109
Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism 108
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. 107
Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin. 105
A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy. 105
Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation 102
Deletion 2p15-16.1 syndrome: Case Report and Review 94
Epilepsy in hemiplegic migraine: Genetic mutations and clinical implications 91
Heterozygous X-linked adrenoleukodystrophy-associated myelopathy mimicking primary progressive multiple sclerosis 90
A53T in a parkinsonian family: a clinical update of the SNCA phenotypes 87
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 87
Imerslund-Gräsbeck syndrome in an infant with a novel intronic variant in the AMN gene: A case report 84
Pluripotent stem cells from human amniotic fluid and their immunomodulatory properties 83
Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly. 81
Report of a novel SHOX missense variant in a boy with short stature and his mother with Leri-Weill dyschondrosteosis 81
Lethal and non-lethal GLIS1 related malformation syndromes 80
A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline 79
Aicardi Syndrome Associated with Autosomal Genomic Imbalance: Coincidence or Evidence for Autosomal Inheritance with Sex-Limited Expression? 79
A novel mutation in the SDHD gene responsible for familial paraganglioma. Medical and psychological implications. 78
Shapiro's syndrome: Defining the clinical spectrum of the spontaneous paroxysmal hypothermia syndrome. 78
Brief Report: Functional MRI of a Patient with 7q11.23 Duplication Syndrome and Autism Spectrum Disorder. 74
Identification of a dna methylation episignature in the 22q11.2 deletion syndrome 74
Seizure aggravation caused by antiepileptic drugs in a patient with muscle-eye-brain disease. 73
FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3-q28 in a male and his mother. 72
Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype. 71
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 71
Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus. 69
Familial pericentric inversion of chromosome 18: intrafamilial variability of the recombinant dup(18q). 69
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 69
Prenatal diagnosis and molecular characterization of an interstitial 1q24.3-31.3 deletion: case report and review. 68
Hot water epilepsy and Mccune-Albright syndrome: a case report. 67
Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations 65
Epileptogenic brain malformations and mutations in tubulin genes: A case report and review of the literature 65
Clinical features and outcome of 6 new patients carrying de novoKCNB1gene mutations 65
MBOAT7 encephalopathy: Characterizing the neurology and epileptology 64
ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection 64
Blood cell mitochondrial DNA content and premature ovarian aging 63
Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia. 62
Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene 62
Migraine and epilepsy: what value today? 62
A rare case of brachyolmia with amelogenesis imperfecta caused by a new pathogenic splicing variant in ltbp3 61
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3 61
Late-onset n-acetylglutamate synthase deficiency: Report of a paradigmatic adult case presenting with headaches and review of the literature 60
Genotype–phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia 60
A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile 60
Long-term follow-up in pediatric patients with paroxysmal hypothermia (Shapiro's syndrome) 60
Epm2aR240X knock-in mice present earlier cognitive decline and more epileptic activity than Epm2a-/- mice 59
IRF2BPL: A new genotype for progressive myoclonus epilepsies 58
NFIA haploinsufficiency: case series and literature review 58
Trisomy 15 mosaicism owing to familial reciprocaltranslocation t(1;15): implication for prenatal diagnosis 58
Germline PTPN11 mutation affecting exon 8 in a case of syndromic juvenile myelomonocytic leukemia. 55
Obstruction of the tricuspid valve orifice by a huge right atrial myxoma associated with the Carney complex: a case report 53
Genetica Medica 52
Five children with deletions of 1p34.3 encompassing AGO1 and AGO3. 49
Clinical and electroencephalographic features of epilepsy in patients with triple X syndrome: A case series 48
Potassium Current Signature of Neuronal/Glial Progenitors in Amniotic Fluid Stem Cells 47
Xq12-q13.3 DUPLICATION: EVIDENCE OF A RECURRENT SYNDROME 44
Correction to: CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy 42
A New De Novo Missense Variant of the TET3 Gene in a Patient with Epilepsy and Macrocephaly 38
Contiguous Gene Syndromes and Hearing Loss: A Clinical Report of Xq21 Deletion and Comprehensive Literature Review 35
Totale 4.564
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Categoria #
all - tutte 21.332
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 21.332
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021170 0 0 0 0 0 20 27 2 25 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
2025/20261.184 176 158 134 282 326 108 0 0 0 0 0 0
Totale 4.564