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

PRONTERA, PAOLO
 Distribuzione geografica
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Continente #
NA - Nord America 2.103
AS - Asia 1.746
EU - Europa 1.389
SA - Sud America 305
Continente sconosciuto - Info sul continente non disponibili 129
AF - Africa 56
OC - Oceania 3
Totale 5.731
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Nazione #
US - Stati Uniti d'America 2.020
SG - Singapore 783
CN - Cina 266
IT - Italia 253
IE - Irlanda 244
HK - Hong Kong 240
BR - Brasile 221
VN - Vietnam 181
RU - Federazione Russa 180
UA - Ucraina 148
DE - Germania 145
FI - Finlandia 102
FR - Francia 98
BD - Bangladesh 64
KR - Corea 59
GB - Regno Unito 48
CA - Canada 42
SE - Svezia 39
AR - Argentina 29
IN - India 28
AT - Austria 24
IQ - Iraq 19
MX - Messico 19
BE - Belgio 17
RO - Romania 17
TR - Turchia 17
CL - Cile 15
NL - Olanda 14
PL - Polonia 14
ZA - Sudafrica 14
JP - Giappone 13
CO - Colombia 12
MA - Marocco 11
UZ - Uzbekistan 11
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
CR - Costa Rica 4
DZ - Algeria 4
EU - Europa 4
HN - Honduras 4
IL - Israele 4
LB - Libano 4
ET - Etiopia 3
GT - Guatemala 3
JM - Giamaica 3
JO - Giordania 3
PH - Filippine 3
SN - Senegal 3
AM - Armenia 2
AU - Australia 2
BY - Bielorussia 2
DO - Repubblica Dominicana 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
CG - Congo 1
CI - Costa d'Avorio 1
DK - Danimarca 1
DM - Dominica 1
EE - Estonia 1
IM - Isola di Man 1
LC - Santa Lucia 1
LK - Sri Lanka 1
MD - Moldavia 1
MK - Macedonia 1
ML - Mali 1
NI - Nicaragua 1
NZ - Nuova Zelanda 1
PR - Porto Rico 1
QA - Qatar 1
SC - Seychelles 1
SI - Slovenia 1
SO - Somalia 1
TH - Thailandia 1
Totale 5.605
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Città #
Singapore 571
Chandler 249
Dublin 241
Hong Kong 240
San Jose 203
Ashburn 126
San Mateo 96
Boardman 94
Santa Clara 83
Jacksonville 81
Beijing 80
Perugia 67
Dong Ket 66
Ann Arbor 60
Moscow 60
Munich 59
Seoul 59
Lauterbourg 51
Medford 51
Princeton 51
Altamura 49
Los Angeles 46
Lawrence 42
Wilmington 38
Helsinki 36
Ho Chi Minh City 34
New York 32
Turku 29
Andover 25
The Dalles 25
Hanoi 22
Des Moines 21
São Paulo 19
Nuremberg 18
Piscataway 18
Brooklyn 16
Montreal 16
Brussels 15
Dallas 15
Frankfurt am Main 15
London 15
Phoenix 14
Tokyo 13
Columbus 12
San Paolo di Civitate 12
Vienna 12
Bucharest 11
Denver 11
Orem 11
Redwood City 11
Rome 11
Stockholm 11
Saint Petersburg 10
Toronto 10
Boston 9
Da Nang 9
Florence 9
Norwalk 9
Warsaw 9
Atlanta 8
Johannesburg 8
Izmir 7
Milan 7
Santiago 7
Baghdad 6
Chennai 6
Council Bluffs 6
Falls Church 6
Haiphong 6
Hefei 6
Mexico City 6
Redmond 6
Rio de Janeiro 6
Shanghai 6
Tashkent 6
Amsterdam 5
Bologna 5
Buffalo 5
Chicago 5
Dearborn 5
Erbil 5
Goiânia 5
Houston 5
Nairobi 5
Seattle 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
Palermo 4
Totale 3.543
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Nome #
Stem cells from human amniotic fluid exert immunoregulatory function via secreted indoleamine 2,3-dioxygenase1 228
ISOLAMENTO E CARATTERIZZAZIONE MOLECOLARE DI CELLULE STAMINALI MESENCHIMALI UMANE DA LIQUIDO AMNIOTICO 151
Occurrence of the same chromosome abnormalities in Ph+ and Ph- cells in chronic myeloid leukaemia. Evidence of a secondary origin of the Ph chromosome? 147
Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism 138
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. 132
Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation 123
A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy. 122
Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin. 121
Lethal and non-lethal GLIS1 related malformation syndromes 116
Epilepsy in hemiplegic migraine: Genetic mutations and clinical implications 115
Report of a novel SHOX missense variant in a boy with short stature and his mother with Leri-Weill dyschondrosteosis 111
Long-term follow-up in pediatric patients with paroxysmal hypothermia (Shapiro's syndrome) 107
Deletion 2p15-16.1 syndrome: Case Report and Review 106
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
A53T in a parkinsonian family: a clinical update of the SNCA phenotypes 102
Imerslund-Gräsbeck syndrome in an infant with a novel intronic variant in the AMN gene: A case report 101
A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline 100
Heterozygous X-linked adrenoleukodystrophy-associated myelopathy mimicking primary progressive multiple sclerosis 100
MBOAT7 encephalopathy: Characterizing the neurology and epileptology 99
A novel mutation in the SDHD gene responsible for familial paraganglioma. Medical and psychological implications. 97
Aicardi Syndrome Associated with Autosomal Genomic Imbalance: Coincidence or Evidence for Autosomal Inheritance with Sex-Limited Expression? 97
Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly. 95
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. 90
Identification of a dna methylation episignature in the 22q11.2 deletion syndrome 89
Epileptogenic brain malformations and mutations in tubulin genes: A case report and review of the literature 88
Brief Report: Functional MRI of a Patient with 7q11.23 Duplication Syndrome and Autism Spectrum Disorder. 87
FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3-q28 in a male and his mother. 86
Seizure aggravation caused by antiepileptic drugs in a patient with muscle-eye-brain disease. 85
Familial pericentric inversion of chromosome 18: intrafamilial variability of the recombinant dup(18q). 85
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 85
A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile 85
A rare case of brachyolmia with amelogenesis imperfecta caused by a new pathogenic splicing variant in ltbp3 85
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 85
Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations 84
ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection 83
Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene 81
Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus. 80
Prenatal diagnosis and molecular characterization of an interstitial 1q24.3-31.3 deletion: case report and review. 80
Epm2aR240X knock-in mice present earlier cognitive decline and more epileptic activity than Epm2a-/- mice 77
Migraine and epilepsy: what value today? 77
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3 77
NFIA haploinsufficiency: case series and literature review 76
Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia. 76
Blood cell mitochondrial DNA content and premature ovarian aging 76
Clinical features and outcome of 6 new patients carrying de novoKCNB1gene mutations 76
Hot water epilepsy and Mccune-Albright syndrome: a case report. 75
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 73
Genotype–phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia 72
IRF2BPL: A new genotype for progressive myoclonus epilepsies 71
Clinical and electroencephalographic features of epilepsy in patients with triple X syndrome: A case series 71
Late-onset n-acetylglutamate synthase deficiency: Report of a paradigmatic adult case presenting with headaches and review of the literature 67
Correction to: CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy 63
Obstruction of the tricuspid valve orifice by a huge right atrial myxoma associated with the Carney complex: a case report 63
Germline PTPN11 mutation affecting exon 8 in a case of syndromic juvenile myelomonocytic leukemia. 62
Genetica Medica 61
A New De Novo Missense Variant of the TET3 Gene in a Patient with Epilepsy and Macrocephaly 60
Contiguous Gene Syndromes and Hearing Loss: A Clinical Report of Xq21 Deletion and Comprehensive Literature Review 57
Five children with deletions of 1p34.3 encompassing AGO1 and AGO3. 55
Xq12-q13.3 DUPLICATION: EVIDENCE OF A RECURRENT SYNDROME 53
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 19
Retinoic Acid Induced 1 and Smith–Magenis Syndrome: From Genetics to Biology and Possible Therapeutic Strategies 16
Generation of a human induced pluripotent stem cell line (CIBIOi007-A) from a Lafora disease patient 15
Neuronal hyperexcitability: A key to unraveling hippocampal synaptic dysfunction in Lafora disease 15
SINEUP-Mediated Overexpression of Endogenous α-Amylase as a Therapeutic Approach in Lafora Disease 2
Totale 5.731
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Categoria #
all - tutte 26.430
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 26.430
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022379 0 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
2025/20262.257 176 158 134 282 326 186 330 109 232 176 89 59
2026/202794 43 51 0 0 0 0 0 0 0 0 0 0
Totale 5.731