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

PRONTERA, PAOLO
 Distribuzione geografica
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Continente #
NA - Nord America 1.076
EU - Europa 787
AS - Asia 394
Continente sconosciuto - Info sul continente non disponibili 4
SA - Sud America 4
OC - Oceania 2
Totale 2.267
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Nazione #
US - Stati Uniti d'America 1.076
IE - Irlanda 240
IT - Italia 158
UA - Ucraina 141
HK - Hong Kong 132
SG - Singapore 87
CN - Cina 78
VN - Vietnam 66
FI - Finlandia 51
DE - Germania 46
RU - Federazione Russa 33
SE - Svezia 30
FR - Francia 22
KR - Corea 18
GB - Regno Unito 17
RO - Romania 16
BE - Belgio 13
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
AD - Andorra 1
CZ - Repubblica Ceca 1
IM - Isola di Man 1
JP - Giappone 1
Totale 2.267
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Città #
Chandler 249
Dublin 238
Hong Kong 132
San Mateo 96
Jacksonville 80
Dong Ket 66
Ann Arbor 60
Singapore 60
Medford 51
Perugia 51
Princeton 51
Altamura 49
Lawrence 42
Wilmington 38
Beijing 36
Boardman 28
Andover 25
Des Moines 21
Seoul 18
Helsinki 15
San Paolo di Civitate 12
Brussels 11
Bucharest 11
Redwood City 11
Saint Petersburg 10
Los Angeles 9
Norwalk 9
Ashburn 6
Falls Church 6
Izmir 6
Redmond 6
Dearborn 5
Woodbridge 5
Auburn Hills 4
Fremont 4
New York 4
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
Stockholm 2
Sydney 2
Alghero 1
Altino 1
Andorra la Vella 1
Assisi 1
Benevento 1
Bologna 1
Cattolica 1
Collazzone 1
Douglas 1
Due West 1
Ferrara 1
Frankfurt Am Main 1
Groningen 1
Grossmuehlingen 1
Jesi 1
Landshut 1
Ludwigshafen 1
Marano Di Napoli 1
Milan 1
Montecarlo 1
Munich 1
Porto Torres 1
Rovato 1
Shanghai 1
Southwell 1
Tappahannock 1
Tokyo 1
Vienna 1
Woodford 1
Totale 1.589
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Nome #
Stem cells from human amniotic fluid exert immunoregulatory function via secreted indoleamine 2,3-dioxygenase1 169
ISOLAMENTO E CARATTERIZZAZIONE MOLECOLARE DI CELLULE STAMINALI MESENCHIMALI UMANE DA LIQUIDO AMNIOTICO 116
Occurrence of the same chromosome abnormalities in Ph+ and Ph- cells in chronic myeloid leukaemia. Evidence of a secondary origin of the Ph chromosome? 82
Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin. 62
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. 61
Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism 61
Deletion 2p15-16.1 syndrome: Case Report and Review 57
Pluripotent stem cells from human amniotic fluid and their immunomodulatory properties 53
A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy. 52
Aicardi Syndrome Associated with Autosomal Genomic Imbalance: Coincidence or Evidence for Autosomal Inheritance with Sex-Limited Expression? 51
A53T in a parkinsonian family: a clinical update of the SNCA phenotypes 51
A novel mutation in the SDHD gene responsible for familial paraganglioma. Medical and psychological implications. 49
Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation 49
Seizure aggravation caused by antiepileptic drugs in a patient with muscle-eye-brain disease. 48
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 47
Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus. 45
Prenatal diagnosis and molecular characterization of an interstitial 1q24.3-31.3 deletion: case report and review. 45
Familial pericentric inversion of chromosome 18: intrafamilial variability of the recombinant dup(18q). 44
Shapiro's syndrome: Defining the clinical spectrum of the spontaneous paroxysmal hypothermia syndrome. 44
Epilepsy in hemiplegic migraine: Genetic mutations and clinical implications 44
Heterozygous X-linked adrenoleukodystrophy-associated myelopathy mimicking primary progressive multiple sclerosis 42
Imerslund-Gräsbeck syndrome in an infant with a novel intronic variant in the AMN gene: A case report 42
Lethal and non-lethal GLIS1 related malformation syndromes 42
Trisomy 15 mosaicism owing to familial reciprocaltranslocation t(1;15): implication for prenatal diagnosis 40
Clinical features and outcome of 6 new patients carrying de novoKCNB1gene mutations 40
Migraine and epilepsy: what value today? 40
Hot water epilepsy and Mccune-Albright syndrome: a case report. 39
Brief Report: Functional MRI of a Patient with 7q11.23 Duplication Syndrome and Autism Spectrum Disorder. 39
Report of a novel SHOX missense variant in a boy with short stature and his mother with Leri-Weill dyschondrosteosis 39
Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia. 38
Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly. 38
FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3-q28 in a male and his mother. 37
A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline 36
Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype. 36
Genetica Medica 35
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 35
Late-onset n-acetylglutamate synthase deficiency: Report of a paradigmatic adult case presenting with headaches and review of the literature 33
Genotype–phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia 32
Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene 32
Identification of a dna methylation episignature in the 22q11.2 deletion syndrome 32
Blood cell mitochondrial DNA content and premature ovarian aging 30
Epileptogenic brain malformations and mutations in tubulin genes: A case report and review of the literature 30
A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile 30
Obstruction of the tricuspid valve orifice by a huge right atrial myxoma associated with the Carney complex: a case report 29
Xq12-q13.3 DUPLICATION: EVIDENCE OF A RECURRENT SYNDROME 29
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3 29
Five children with deletions of 1p34.3 encompassing AGO1 and AGO3. 28
Long-term follow-up in pediatric patients with paroxysmal hypothermia (Shapiro's syndrome) 28
Germline PTPN11 mutation affecting exon 8 in a case of syndromic juvenile myelomonocytic leukemia. 27
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 26
A rare case of brachyolmia with amelogenesis imperfecta caused by a new pathogenic splicing variant in ltbp3 25
ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection 23
Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations 18
IRF2BPL: A new genotype for progressive myoclonus epilepsies 13
NFIA haploinsufficiency: case series and literature review 9
Clinical and electroencephalographic features of epilepsy in patients with triple X syndrome: A case series 9
Epm2aR240X knock-in mice present earlier cognitive decline and more epileptic activity than Epm2a-/- mice 9
Totale 2.369
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Categoria #
all - tutte 10.328
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 10.328
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020204 16 27 25 4 22 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
2024/202521 21 0 0 0 0 0 0 0 0 0 0 0
Totale 2.369