IRIS Institutional Research Information System - OPENBS Open Archive UniBS

Cinquina, Valeria
 Distribuzione geografica
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Continente #
NA - Nord America 1.043
EU - Europa 914
AS - Asia 199
SA - Sud America 7
OC - Oceania 3
AF - Africa 1
Totale 2.167
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Nazione #
US - Stati Uniti d'America 1.037
PL - Polonia 600
CN - Cina 103
UA - Ucraina 88
IT - Italia 63
HK - Hong Kong 44
VN - Vietnam 42
DE - Germania 41
FI - Finlandia 35
GB - Regno Unito 30
FR - Francia 27
IE - Irlanda 21
IN - India 7
CA - Canada 6
CL - Cile 4
NL - Olanda 4
AU - Australia 3
EC - Ecuador 3
SE - Svezia 3
BE - Belgio 2
TR - Turchia 2
MU - Mauritius 1
PH - Filippine 1
Totale 2.167
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Città #
Warsaw 600
Fairfield 199
Ashburn 108
Woodbridge 84
Seattle 79
Jacksonville 78
Cambridge 66
Houston 63
Wilmington 57
Chandler 50
Hong Kong 44
Dong Ket 42
New York 38
Princeton 38
Brescia 33
Helsinki 31
Beijing 29
Ann Arbor 22
Dearborn 21
Dublin 21
Nanjing 15
Des Moines 11
Los Angeles 11
Shanghai 10
Lancaster 9
San Diego 9
Jinan 8
London 8
Shenyang 7
Hangzhou 5
Nanchang 5
Seregno 5
Ottaviano 4
Phoenix 4
Pune 4
Talcahuano 4
Tianjin 4
Toronto 4
Chiswick 3
Cuenca 3
Hebei 3
Jiaxing 3
Rome 3
Auburn 2
Canberra 2
Changsha 2
Fuzhou 2
Haikou 2
Lappeenranta 2
Mele 2
Piombino 2
Redwood City 2
Sundbyberg 2
The Bronx 2
Waanrode 2
Zhengzhou 2
Acton 1
Amsterdam 1
Boardman 1
Camden 1
Cankaya 1
Crema 1
Denver 1
Frankfurt am Main 1
Greenwich 1
Guangzhou 1
Gunzenhausen 1
Kilburn 1
Lanzhou 1
Markham 1
Melbourne 1
Miami Beach 1
Montreal 1
Palermo 1
Rezzato 1
San Francisco 1
San Mateo 1
Santa Maria 1
Scottsdale 1
Sioux Falls 1
Taiyuan 1
Taizhou 1
Varano de' Melegari 1
Washington 1
Totale 1.899
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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 227
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. 216
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 181
Expanding the clinical and mutational spectrum of recessive AEBP1-related classical-like Ehlers-Danlos syndrome 160
Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant 141
Genotypic categorization of Loeys-Dietz syndrome based on 24 novel families and literature data 139
Further defining the phenotypic spectrum of B3GAT3 mutations and literature review on linkeropathy syndromes 126
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder 106
Cannabidiol administration after hypoxia-ischemia to newborn rats reduces long-term brain injury and restores neurobehavioral function 102
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome 100
Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology 93
Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity 87
A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing 86
Does miR-338, a putative negative regulator of the facilitative glucose transporter 10 (GLUT10), play a role in arterial tortuosity syndrome? 81
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 66
Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives 66
Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa 63
Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA 49
Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency 47
Phacomatosis pigmentovascularis spilorosea and mutation in the PTPN11 gene: new case with significant neurologic impairment 22
Phacomatosis pigmentovascularis spilorosea mit Mutation im PTPN11 Gen: neuer Fall mit erheblichen neurologischen Beeinträchtigungen 14
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 13
Deciphering disease signatures and molecular targets in vascular Ehlers-Danlos syndrome through transcriptome and miRNome sequencing of dermal fibroblasts 11
Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome 9
Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers-Danlos syndrome: A retrospective cross-sectional study from an Italian reference center 8
Totale 2.213
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Categoria #
all - tutte 9.152
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 9.152
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201954 0 0 0 0 0 0 0 0 0 0 27 27
2019/2020732 62 29 26 49 71 98 72 87 77 71 49 41
2020/2021582 16 44 37 70 51 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
2023/2024256 23 7 15 31 22 57 15 15 48 20 3 0
Totale 2.213