IRIS Institutional Research Information System - OPENBS Open Archive UniBS

Cinquina, Valeria
 Distribuzione geografica
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Continente #
NA - Nord America 1.470
EU - Europa 1.177
AS - Asia 770
SA - Sud America 142
AF - Africa 18
OC - Oceania 5
Totale 3.582
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Nazione #
US - Stati Uniti d'America 1.449
PL - Polonia 602
SG - Singapore 260
CN - Cina 210
IT - Italia 127
BR - Brasile 106
DE - Germania 105
UA - Ucraina 94
HK - Hong Kong 85
VN - Vietnam 85
GB - Regno Unito 67
FI - Finlandia 61
FR - Francia 31
TR - Turchia 30
IN - India 26
RU - Federazione Russa 23
IE - Irlanda 22
ID - Indonesia 17
CA - Canada 14
AR - Argentina 13
NL - Olanda 12
ZA - Sudafrica 10
BD - Bangladesh 8
KR - Corea 8
SA - Arabia Saudita 8
AT - Austria 7
ES - Italia 7
BE - Belgio 6
CL - Cile 6
JP - Giappone 6
AU - Australia 5
IQ - Iraq 5
SE - Svezia 5
EC - Ecuador 4
JO - Giordania 4
MX - Messico 4
PK - Pakistan 4
VE - Venezuela 4
AE - Emirati Arabi Uniti 3
IL - Israele 3
PY - Paraguay 3
UY - Uruguay 3
BO - Bolivia 2
EG - Egitto 2
GR - Grecia 2
JM - Giamaica 2
MA - Marocco 2
PH - Filippine 2
AL - Albania 1
AM - Armenia 1
BA - Bosnia-Erzegovina 1
CH - Svizzera 1
CO - Colombia 1
CZ - Repubblica Ceca 1
ET - Etiopia 1
KG - Kirghizistan 1
LK - Sri Lanka 1
LT - Lituania 1
MU - Mauritius 1
PA - Panama 1
PS - Palestinian Territory 1
PT - Portogallo 1
SN - Senegal 1
TH - Thailandia 1
TN - Tunisia 1
UZ - Uzbekistan 1
Totale 3.582
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Città #
Warsaw 602
Fairfield 199
Ashburn 164
Singapore 137
Hong Kong 85
Woodbridge 84
Seattle 82
Jacksonville 78
Beijing 70
New York 69
Cambridge 66
Houston 63
Wilmington 57
Chandler 50
Brescia 49
Munich 45
Dong Ket 42
Los Angeles 40
Helsinki 38
Princeton 38
The Dalles 33
Istanbul 23
Ann Arbor 22
Dublin 22
Dearborn 21
Ho Chi Minh City 16
Chicago 15
Dallas 15
Jakarta 15
Nanjing 15
San Francisco 15
Turku 15
Shanghai 14
São Paulo 13
Des Moines 12
London 12
Redondo Beach 12
Lancaster 10
Rome 10
Chennai 9
Nuremberg 9
San Diego 9
Burlington 8
Jinan 8
Milan 8
Toronto 8
Buffalo 7
Moscow 7
Shenyang 7
Tianjin 7
Denver 6
Hangzhou 6
Hanoi 6
Lappeenranta 6
Phoenix 6
Tokyo 6
Albuquerque 5
Baltimore 5
Changsha 5
Council Bluffs 5
Glasgow 5
Johannesburg 5
Limbiate 5
Nanchang 5
Pune 5
Santa Clara 5
Seregno 5
Yuseong-gu 5
Amman 4
Baghdad 4
Boston 4
Brooklyn 4
Brussels 4
Ottaviano 4
Talcahuano 4
Aachen 3
Amsterdam 3
Atlanta 3
Chiswick 3
Cuenca 3
Da Nang 3
Hebei 3
Jeddah 3
Jiaxing 3
Madison 3
Montreal 3
Orem 3
Oxford 3
Porto Alegre 3
Priolo Gargallo 3
Rio de Janeiro 3
Vienna 3
Amherst 2
Ankara 2
Annapolis 2
Auburn 2
Augsburg 2
Avellaneda 2
Boardman 2
Buenos Aires 2
Totale 2.646
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Nome #
GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts 266
GLUT10 deficiency leads to oxidative stress and non-canonical avb3 integrin-mediated TGF signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts. 262
Clinical and molecular characterization of an 18-month-old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review 217
Expanding the clinical and mutational spectrum of recessive AEBP1-related classical-like Ehlers-Danlos syndrome 206
Genotypic categorization of Loeys-Dietz syndrome based on 24 novel families and literature data 195
Further defining the phenotypic spectrum of B3GAT3 mutations and literature review on linkeropathy syndromes 176
Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant 176
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder 156
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome 149
Cannabidiol administration after hypoxia-ischemia to newborn rats reduces long-term brain injury and restores neurobehavioral function 147
A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing 144
ADAR therapy: a breakthrough against genetic disorders 142
Does miR-338, a putative negative regulator of the facilitative glucose transporter 10 (GLUT10), play a role in arterial tortuosity syndrome? 142
Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology 136
Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity 122
Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers–Danlos syndrome: The importance of phenotype-guided genetic testing 106
Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives 105
Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA 104
Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa 104
Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency 91
Bridging the Diagnostic Gap for Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: Evidence of a Common Extracellular Matrix Fragmentation Pattern in Patient Plasma as a Potential Biomarker 82
Deciphering disease signatures and molecular targets in vascular Ehlers-Danlos syndrome through transcriptome and miRNome sequencing of dermal fibroblasts 82
Integrative Multi-Omics Approach in Vascular Ehlers–Danlos Syndrome: Further Insights into the Disease Mechanisms by Proteomic Analysis of Patient Dermal Fibroblasts 68
Phacomatosis pigmentovascularis spilorosea and mutation in the PTPN11 gene: new case with significant neurologic impairment 60
Phacomatosis pigmentovascularis spilorosea mit Mutation im PTPN11 Gen: neuer Fall mit erheblichen neurologischen Beeinträchtigungen 56
RNA-Seq of Dermal Fibroblasts from Patients with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders Supports Their Categorization as a Single Entity with Involvement of Extracellular Matrix Degrading and Proinflammatory Pathomechanisms 48
Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome 47
Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers-Danlos syndrome: A retrospective cross-sectional study from an Italian reference center 46
Totale 3.635
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Categoria #
all - tutte 16.968
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 16.968
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021364 0 0 0 0 0 76 33 60 48 67 23 57
2021/2022145 10 17 8 11 1 6 6 16 5 11 13 41
2022/2023151 22 1 4 5 15 45 5 22 16 3 4 9
2023/2024301 23 7 15 31 22 57 15 15 48 20 11 37
2024/2025530 3 1 15 87 42 63 43 14 33 31 106 92
2025/2026847 192 152 86 174 166 77 0 0 0 0 0 0
Totale 3.635