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

PRONTERA, PAOLO
 Distribuzione geografica
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Continente #
NA - Nord America 1.368
EU - Europa 1.086
AS - Asia 726
SA - Sud America 134
AF - Africa 12
Continente sconosciuto - Info sul continente non disponibili 4
OC - Oceania 3
Totale 3.333
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Nazione #
US - Stati Uniti d'America 1.345
SG - Singapore 269
IE - Irlanda 240
HK - Hong Kong 227
IT - Italia 195
UA - Ucraina 143
DE - Germania 125
BR - Brasile 122
RU - Federazione Russa 116
FI - Finlandia 97
CN - Cina 93
VN - Vietnam 70
SE - Svezia 33
GB - Regno Unito 24
FR - Francia 23
AT - Austria 21
KR - Corea 18
BE - Belgio 17
RO - Romania 16
CA - Canada 12
NL - Olanda 10
TR - Turchia 9
CH - Svizzera 7
IQ - Iraq 6
IN - India 5
LT - Lituania 5
MX - Messico 5
AR - Argentina 4
CZ - Repubblica Ceca 4
EU - Europa 4
PK - Pakistan 4
PL - Polonia 4
UZ - Uzbekistan 4
BD - Bangladesh 3
KE - Kenya 3
LB - Libano 3
MA - Marocco 3
AL - Albania 2
AU - Australia 2
CL - Cile 2
DZ - Algeria 2
EC - Ecuador 2
JM - Giamaica 2
JP - Giappone 2
NP - Nepal 2
SA - Arabia Saudita 2
UY - Uruguay 2
ZA - Sudafrica 2
AD - Andorra 1
AE - Emirati Arabi Uniti 1
AM - Armenia 1
AZ - Azerbaigian 1
BB - Barbados 1
CI - Costa d'Avorio 1
CR - Costa Rica 1
DO - Repubblica Dominicana 1
EG - Egitto 1
HN - Honduras 1
ID - Indonesia 1
IL - Israele 1
IM - Isola di Man 1
JO - Giordania 1
LK - Sri Lanka 1
LV - Lettonia 1
NZ - Nuova Zelanda 1
PE - Perù 1
PS - Palestinian Territory 1
SI - Slovenia 1
TH - Thailandia 1
VE - Venezuela 1
Totale 3.333
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Città #
Chandler 249
Dublin 238
Hong Kong 227
Singapore 200
San Mateo 96
Boardman 94
Jacksonville 80
Dong Ket 66
Santa Clara 64
Perugia 62
Ann Arbor 60
Munich 58
Medford 51
Princeton 51
Altamura 49
Lawrence 42
Wilmington 38
Beijing 36
Moscow 36
Helsinki 34
Turku 27
Andover 25
Des Moines 21
Los Angeles 19
Seoul 18
Ashburn 15
Brussels 15
Nuremberg 15
San Paolo di Civitate 12
Bucharest 11
Columbus 11
Redwood City 11
The Dalles 11
Vienna 11
Saint Petersburg 10
Norwalk 9
Florence 8
Falls Church 6
Izmir 6
New York 6
Redmond 6
Dallas 5
Dearborn 5
Rio de Janeiro 5
Stockholm 5
West Jordan 5
Woodbridge 5
Auburn Hills 4
Fremont 4
London 4
Montreal 4
Shenzhen 4
Amsterdam 3
Baghdad 3
Bologna 3
Contagem 3
Falkenstein 3
Lappeenranta 3
Lausanne 3
Milan 3
Nairobi 3
Palermo 3
Rome 3
Toronto 3
Belo Horizonte 2
Boston 2
Brasília 2
Brooklyn 2
Campinas 2
Civitanova Marche 2
Cluj-Napoca 2
Curitiba 2
Den Haag 2
Foligno 2
Goiânia 2
Guayaquil 2
Hasselt 2
Houston 2
Indaiatuba 2
Jeddah 2
Joinville 2
Livorno 2
Lucknow 2
L’Aquila 2
Maceió 2
Mexico City 2
Montevideo 2
Mossoró 2
Mountain View 2
Munro 2
Olomouc 2
Pelotas 2
Porto Alegre 2
San Francisco 2
Santiago 2
Shijiazhuang 2
Suzano 2
Sydney 2
São Bernardo do Campo 2
São Paulo 2
Totale 2.262
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Nome #
Stem cells from human amniotic fluid exert immunoregulatory function via secreted indoleamine 2,3-dioxygenase1 182
ISOLAMENTO E CARATTERIZZAZIONE MOLECOLARE DI CELLULE STAMINALI MESENCHIMALI UMANE DA LIQUIDO AMNIOTICO 131
Occurrence of the same chromosome abnormalities in Ph+ and Ph- cells in chronic myeloid leukaemia. Evidence of a secondary origin of the Ph chromosome? 95
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. 86
Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism 83
Deletion 2p15-16.1 syndrome: Case Report and Review 80
Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation 80
A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy. 76
Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin. 74
Epilepsy in hemiplegic migraine: Genetic mutations and clinical implications 69
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 68
Aicardi Syndrome Associated with Autosomal Genomic Imbalance: Coincidence or Evidence for Autosomal Inheritance with Sex-Limited Expression? 66
Report of a novel SHOX missense variant in a boy with short stature and his mother with Leri-Weill dyschondrosteosis 66
A53T in a parkinsonian family: a clinical update of the SNCA phenotypes 65
A novel mutation in the SDHD gene responsible for familial paraganglioma. Medical and psychological implications. 64
Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly. 64
Pluripotent stem cells from human amniotic fluid and their immunomodulatory properties 63
Seizure aggravation caused by antiepileptic drugs in a patient with muscle-eye-brain disease. 62
Lethal and non-lethal GLIS1 related malformation syndromes 62
A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline 60
Imerslund-Gräsbeck syndrome in an infant with a novel intronic variant in the AMN gene: A case report 60
Identification of a dna methylation episignature in the 22q11.2 deletion syndrome 58
Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus. 57
Familial pericentric inversion of chromosome 18: intrafamilial variability of the recombinant dup(18q). 57
Shapiro's syndrome: Defining the clinical spectrum of the spontaneous paroxysmal hypothermia syndrome. 57
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 57
Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype. 56
Brief Report: Functional MRI of a Patient with 7q11.23 Duplication Syndrome and Autism Spectrum Disorder. 56
Hot water epilepsy and Mccune-Albright syndrome: a case report. 54
Heterozygous X-linked adrenoleukodystrophy-associated myelopathy mimicking primary progressive multiple sclerosis 54
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 54
Prenatal diagnosis and molecular characterization of an interstitial 1q24.3-31.3 deletion: case report and review. 53
Clinical features and outcome of 6 new patients carrying de novoKCNB1gene mutations 51
FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3-q28 in a male and his mother. 50
Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia. 50
Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene 50
Trisomy 15 mosaicism owing to familial reciprocaltranslocation t(1;15): implication for prenatal diagnosis 48
Late-onset n-acetylglutamate synthase deficiency: Report of a paradigmatic adult case presenting with headaches and review of the literature 48
Genotype–phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia 48
Migraine and epilepsy: what value today? 48
Blood cell mitochondrial DNA content and premature ovarian aging 46
MBOAT7 encephalopathy: Characterizing the neurology and epileptology 44
ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection 44
Genetica Medica 44
Epileptogenic brain malformations and mutations in tubulin genes: A case report and review of the literature 43
A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile 43
A rare case of brachyolmia with amelogenesis imperfecta caused by a new pathogenic splicing variant in ltbp3 43
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3 43
Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations 42
Long-term follow-up in pediatric patients with paroxysmal hypothermia (Shapiro's syndrome) 42
Obstruction of the tricuspid valve orifice by a huge right atrial myxoma associated with the Carney complex: a case report 40
Germline PTPN11 mutation affecting exon 8 in a case of syndromic juvenile myelomonocytic leukemia. 40
Five children with deletions of 1p34.3 encompassing AGO1 and AGO3. 40
IRF2BPL: A new genotype for progressive myoclonus epilepsies 38
Epm2aR240X knock-in mice present earlier cognitive decline and more epileptic activity than Epm2a-/- mice 38
Xq12-q13.3 DUPLICATION: EVIDENCE OF A RECURRENT SYNDROME 37
NFIA haploinsufficiency: case series and literature review 31
Clinical and electroencephalographic features of epilepsy in patients with triple X syndrome: A case series 25
A New De Novo Missense Variant of the TET3 Gene in a Patient with Epilepsy and Macrocephaly 19
Potassium Current Signature of Neuronal/Glial Progenitors in Amniotic Fluid Stem Cells 18
Correction to: CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy 16
Contiguous Gene Syndromes and Hearing Loss: A Clinical Report of Xq21 Deletion and Comprehensive Literature Review 10
Totale 3.448
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Categoria #
all - tutte 17.105
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 17.105
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021344 8 24 3 26 113 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
2025/202668 68 0 0 0 0 0 0 0 0 0 0 0
Totale 3.448