IRIS Institutional Research Information System - OPENBS Open Archive UniBS

Dordoni, Chiara
 Distribuzione geografica
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Continente #
NA - Nord America 2.731
EU - Europa 2.045
AS - Asia 1.128
SA - Sud America 176
AF - Africa 32
OC - Oceania 21
Totale 6.133
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Nazione #
US - Stati Uniti d'America 2.683
PL - Polonia 1.105
CN - Cina 404
SG - Singapore 367
UA - Ucraina 182
IT - Italia 159
BR - Brasile 146
DE - Germania 129
FI - Finlandia 114
VN - Vietnam 98
GB - Regno Unito 94
FR - Francia 92
HK - Hong Kong 89
IN - India 40
IE - Irlanda 38
RU - Federazione Russa 36
TR - Turchia 31
NL - Olanda 30
CA - Canada 28
AU - Australia 21
BD - Bangladesh 20
BE - Belgio 19
ID - Indonesia 13
ES - Italia 12
SE - Svezia 12
MX - Messico 11
ZA - Sudafrica 10
IQ - Iraq 9
JP - Giappone 9
AR - Argentina 8
PK - Pakistan 8
AT - Austria 7
SA - Arabia Saudita 7
PT - Portogallo 6
CL - Cile 5
CO - Colombia 5
KR - Corea 5
MA - Marocco 5
NG - Nigeria 5
CH - Svizzera 4
UZ - Uzbekistan 4
VE - Venezuela 4
AE - Emirati Arabi Uniti 3
EG - Egitto 3
IL - Israele 3
JO - Giordania 3
MY - Malesia 3
NP - Nepal 3
PY - Paraguay 3
TN - Tunisia 3
AZ - Azerbaigian 2
BO - Bolivia 2
CZ - Repubblica Ceca 2
DO - Repubblica Dominicana 2
EC - Ecuador 2
HN - Honduras 2
KZ - Kazakistan 2
PA - Panama 2
PH - Filippine 2
AM - Armenia 1
AO - Angola 1
CG - Congo 1
CR - Costa Rica 1
ET - Etiopia 1
GA - Gabon 1
GT - Guatemala 1
JM - Giamaica 1
KE - Kenya 1
LT - Lituania 1
LU - Lussemburgo 1
MU - Mauritius 1
OM - Oman 1
PS - Palestinian Territory 1
RO - Romania 1
RS - Serbia 1
UY - Uruguay 1
Totale 6.133
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Città #
Warsaw 1.101
Fairfield 290
Ashburn 265
Singapore 191
Woodbridge 191
Jacksonville 139
Houston 138
Seattle 131
Ann Arbor 130
Cambridge 124
San Jose 117
Wilmington 112
Chandler 94
Beijing 92
Helsinki 88
Hong Kong 86
The Dalles 76
Princeton 60
New York 58
Brescia 47
Nanjing 45
Los Angeles 42
Munich 39
Dublin 38
Council Bluffs 37
Dearborn 35
Dong Ket 34
Lancaster 32
Dallas 28
Lauterbourg 28
Istanbul 25
São Paulo 21
Shanghai 20
Santa Clara 19
Jinan 18
Nanchang 17
San Francisco 16
Chicago 15
Hanoi 15
Ho Chi Minh City 15
San Diego 15
Turku 15
Brussels 14
Buffalo 14
Changsha 14
Des Moines 14
Moscow 13
Phoenix 13
Shenyang 13
Tianjin 13
Hebei 11
Jakarta 11
Redondo Beach 11
Amsterdam 10
Zhengzhou 10
London 9
Milan 9
Rome 9
Tokyo 9
Toronto 9
Boston 8
Mexico City 8
Orem 8
Ningbo 7
Atlanta 6
Brooklyn 6
Chennai 6
Frankfurt am Main 6
Fuzhou 6
Jiaxing 6
Johannesburg 6
Manchester 6
Nuremberg 6
Ottawa 6
Porto 6
Vienna 6
Abuja 5
Baghdad 5
Baltimore 5
Belo Horizonte 5
Charlotte 5
Denver 5
Haiphong 5
Hangzhou 5
Philadelphia 5
Poplar 5
Pune 5
Waanrode 5
Basel 4
Boardman 4
Bologna 4
Brasília 4
Falkenstein 4
Falls Church 4
Guangzhou 4
Hải Dương 4
Melbourne 4
Montreal 4
Orange 4
Riyadh 4
Totale 4.516
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Nome #
Further delineation of FKBP14-related Ehlers-Danlos syndrome: a patient with early vascular complications and non-progressive kyphoscoliosis, and literature review 429
High prevalence of radiological vertebral fractures in adult patients with Ehlers-Danlos syndrome 357
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type 339
Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 285
Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers–Danlos syndrome, hypermobility type 284
Molecular characterization and transcriptome-wide expression profiling of two patients affected with spondyloepimetaphyseal dysplasia with joint laxity type 261
Classic Ehlers-danlos syndrome: clinical and molecular characterisation of 37 patients 255
Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes 249
Report on a patient with extremely fragile skin, dermatosparaxis, joint hypermobility, short stature, skeletal deformities, and lipomas: a new syndrome? 240
Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review. 223
Clinical variability in two Macedonian families with Arterial tortuosity syndrome 220
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients 219
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type 209
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder 183
COL6A5 variants in familial neuropathic chronic itch 172
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome 165
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type 164
A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing 163
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review 161
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders 155
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type 155
Clinical and molecular characterization of a 13-year-old Indian boy with cutis laxa type 2B: Identification of two novel PYCR1 mutations by amplicon-based semiconductor exome sequencing 155
Italian validation of the functional difficulties questionnaire (FDQ-9) and its correlation with major determinants of quality of life in adults with hypermobile Ehlers–Danlos syndrome/hypermobility spectrum disorder 152
Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type: A study of intrafamilial and interfamilial variability in 23 Italian pedigrees. 145
Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review 138
Compound heterozygosity of the novel 186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa 135
Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity 131
Delineation of Ehlers–Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review 127
Lessons From the Clinic: ADPKD Genetic Test Unraveling Severe Phenotype, Intrafamilial Variability, and New, Rare Causing Genotype 91
Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry 85
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3 69
Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review 60
#6036 CYSTIC KIDNEY PHENOTYPE IS A FREQUENT, AGE- AND EGFR- DEPENDENT FINDING IN ALPORT SYNDROME 21
Phenotypic Heterogeneity in Type IV Collagen-Associated Nephropathy: The Cystic Phenotype 19
#623 SGLT2 inhibitors in adult patients with Alport syndrome: a single center Italian experience 16
Totale 6.232
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Categoria #
all - tutte 24.131
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 24.131
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022301 24 37 13 15 10 28 12 26 13 36 18 69
2022/2023272 41 2 6 22 32 67 1 28 39 7 14 13
2023/2024290 24 12 23 26 19 65 15 11 41 9 5 40
2024/2025611 4 5 4 91 52 60 54 17 60 38 135 91
2025/20261.509 131 183 83 174 158 156 227 44 97 143 84 29
2026/202724 24 0 0 0 0 0 0 0 0 0 0 0
Totale 6.232