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

PRONTERA, PAOLO
 Distribuzione geografica
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Continente #
NA - Nord America 1.233
EU - Europa 820
AS - Asia 531
SA - Sud America 5
Continente sconosciuto - Info sul continente non disponibili 4
OC - Oceania 3
Totale 2.596
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Nazione #
US - Stati Uniti d'America 1.233
IE - Irlanda 240
SG - Singapore 212
IT - Italia 164
UA - Ucraina 141
HK - Hong Kong 132
CN - Cina 88
VN - Vietnam 66
FI - Finlandia 63
DE - Germania 56
RU - Federazione Russa 33
SE - Svezia 30
FR - Francia 22
GB - Regno Unito 18
KR - Corea 18
RO - Romania 16
BE - Belgio 14
CH - Svizzera 7
TR - Turchia 6
EU - Europa 4
NL - Olanda 4
AT - Austria 3
LB - Libano 3
PL - Polonia 3
UZ - Uzbekistan 3
AR - Argentina 2
AU - Australia 2
BR - Brasile 2
CZ - Repubblica Ceca 2
LT - Lituania 2
AD - Andorra 1
EC - Ecuador 1
IM - Isola di Man 1
JP - Giappone 1
LK - Sri Lanka 1
NZ - Nuova Zelanda 1
TH - Thailandia 1
Totale 2.596
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Città #
Chandler 249
Dublin 238
Singapore 178
Hong Kong 132
San Mateo 96
Boardman 94
Jacksonville 80
Dong Ket 66
Santa Clara 63
Ann Arbor 60
Medford 51
Perugia 51
Princeton 51
Altamura 49
Lawrence 42
Wilmington 38
Beijing 36
Helsinki 27
Andover 25
Des Moines 21
Seoul 18
Brussels 12
San Paolo di Civitate 12
Bucharest 11
Redwood City 11
Los Angeles 10
Saint Petersburg 10
Munich 9
Norwalk 9
Ashburn 6
Falls Church 6
Izmir 6
Redmond 6
Dearborn 5
Woodbridge 5
Auburn Hills 4
Fremont 4
New York 4
Dallas 3
Lappeenranta 3
Lausanne 3
Moscow 3
Civitanova Marche 2
Cluj-Napoca 2
Den Haag 2
Foligno 2
Hasselt 2
Houston 2
Livorno 2
L’Aquila 2
Mountain View 2
Munro 2
Rio de Janeiro 2
Rome 2
Shijiazhuang 2
Stockholm 2
Sydney 2
Alghero 1
Altino 1
Andorra la Vella 1
Assisi 1
Auckland 1
Benevento 1
Bologna 1
Cattolica 1
Collazzone 1
Colombo 1
Douglas 1
Due West 1
Ferrara 1
Frankfurt Am Main 1
Grefrath 1
Groningen 1
Grossmuehlingen 1
Guayaquil 1
Hwang Chow 1
Jesi 1
Landshut 1
London 1
Ludwigshafen 1
Marano Di Napoli 1
Milan 1
Montecarlo 1
Ningbo 1
Nuremberg 1
Porto Torres 1
Prague 1
Rovato 1
Shanghai 1
Southwell 1
Tappahannock 1
Tianjin 1
Tokyo 1
Vienna 1
Woodford 1
Yantai 1
Totale 1.876
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Nome #
Stem cells from human amniotic fluid exert immunoregulatory function via secreted indoleamine 2,3-dioxygenase1 176
ISOLAMENTO E CARATTERIZZAZIONE MOLECOLARE DI CELLULE STAMINALI MESENCHIMALI UMANE DA LIQUIDO AMNIOTICO 123
Occurrence of the same chromosome abnormalities in Ph+ and Ph- cells in chronic myeloid leukaemia. Evidence of a secondary origin of the Ph chromosome? 85
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. 72
Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism 68
Deletion 2p15-16.1 syndrome: Case Report and Review 67
Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin. 67
Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation 60
Pluripotent stem cells from human amniotic fluid and their immunomodulatory properties 58
A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy. 58
Aicardi Syndrome Associated with Autosomal Genomic Imbalance: Coincidence or Evidence for Autosomal Inheritance with Sex-Limited Expression? 58
A novel mutation in the SDHD gene responsible for familial paraganglioma. Medical and psychological implications. 56
A53T in a parkinsonian family: a clinical update of the SNCA phenotypes 55
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 53
Epilepsy in hemiplegic migraine: Genetic mutations and clinical implications 53
Seizure aggravation caused by antiepileptic drugs in a patient with muscle-eye-brain disease. 52
Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus. 50
Prenatal diagnosis and molecular characterization of an interstitial 1q24.3-31.3 deletion: case report and review. 50
Familial pericentric inversion of chromosome 18: intrafamilial variability of the recombinant dup(18q). 49
Shapiro's syndrome: Defining the clinical spectrum of the spontaneous paroxysmal hypothermia syndrome. 48
Imerslund-Gräsbeck syndrome in an infant with a novel intronic variant in the AMN gene: A case report 47
Lethal and non-lethal GLIS1 related malformation syndromes 47
A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline 46
Report of a novel SHOX missense variant in a boy with short stature and his mother with Leri-Weill dyschondrosteosis 46
Migraine and epilepsy: what value today? 46
Heterozygous X-linked adrenoleukodystrophy-associated myelopathy mimicking primary progressive multiple sclerosis 45
Clinical features and outcome of 6 new patients carrying de novoKCNB1gene mutations 45
Hot water epilepsy and Mccune-Albright syndrome: a case report. 44
Trisomy 15 mosaicism owing to familial reciprocaltranslocation t(1;15): implication for prenatal diagnosis 44
Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype. 43
Brief Report: Functional MRI of a Patient with 7q11.23 Duplication Syndrome and Autism Spectrum Disorder. 43
Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia. 41
Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly. 41
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 41
Genetica Medica 40
FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3-q28 in a male and his mother. 40
Blood cell mitochondrial DNA content and premature ovarian aging 40
Identification of a dna methylation episignature in the 22q11.2 deletion syndrome 39
Late-onset n-acetylglutamate synthase deficiency: Report of a paradigmatic adult case presenting with headaches and review of the literature 36
Genotype–phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia 36
A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile 36
Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene 35
Epileptogenic brain malformations and mutations in tubulin genes: A case report and review of the literature 34
Xq12-q13.3 DUPLICATION: EVIDENCE OF A RECURRENT SYNDROME 33
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 33
Obstruction of the tricuspid valve orifice by a huge right atrial myxoma associated with the Carney complex: a case report 32
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3 32
Long-term follow-up in pediatric patients with paroxysmal hypothermia (Shapiro's syndrome) 32
Five children with deletions of 1p34.3 encompassing AGO1 and AGO3. 31
A rare case of brachyolmia with amelogenesis imperfecta caused by a new pathogenic splicing variant in ltbp3 31
ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection 30
Germline PTPN11 mutation affecting exon 8 in a case of syndromic juvenile myelomonocytic leukemia. 30
Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations 24
IRF2BPL: A new genotype for progressive myoclonus epilepsies 20
Epm2aR240X knock-in mice present earlier cognitive decline and more epileptic activity than Epm2a-/- mice 18
Clinical and electroencephalographic features of epilepsy in patients with triple X syndrome: A case series 17
NFIA haploinsufficiency: case series and literature review 14
A New De Novo Missense Variant of the TET3 Gene in a Patient with Epilepsy and Macrocephaly 9
Correction to: CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy 1
Totale 2.700
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Categoria #
all - tutte 13.114
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 13.114
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020110 0 0 0 0 0 6 27 5 24 37 6 5
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
2024/2025352 22 69 49 73 83 56 0 0 0 0 0 0
Totale 2.700