IRIS Institutional Research Information System - OPENBS Open Archive UniBS

Dordoni, Chiara
 Distribuzione geografica
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Continente #
NA - Nord America 1.910
EU - Europa 1.730
AS - Asia 374
OC - Oceania 6
AF - Africa 1
Totale 4.021
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Nazione #
US - Stati Uniti d'America 1.897
PL - Polonia 1.095
CN - Cina 232
UA - Ucraina 176
IT - Italia 123
DE - Germania 79
FR - Francia 61
GB - Regno Unito 61
FI - Finlandia 55
IE - Irlanda 38
SG - Singapore 37
HK - Hong Kong 35
VN - Vietnam 34
BE - Belgio 19
IN - India 17
CA - Canada 13
ID - Indonesia 12
NL - Olanda 12
SE - Svezia 7
AU - Australia 6
KR - Corea 2
RU - Federazione Russa 2
AZ - Azerbaigian 1
CZ - Repubblica Ceca 1
ES - Italia 1
IL - Israele 1
MU - Mauritius 1
PK - Pakistan 1
SA - Arabia Saudita 1
TR - Turchia 1
Totale 4.021
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Città #
Warsaw 1.094
Fairfield 290
Woodbridge 191
Ashburn 156
Jacksonville 138
Houston 132
Ann Arbor 130
Seattle 128
Cambridge 124
Wilmington 112
Chandler 94
Princeton 60
Brescia 47
Nanjing 45
Helsinki 44
Dublin 38
New York 38
Beijing 36
Dearborn 35
Dong Ket 34
Hong Kong 33
Lancaster 32
Singapore 23
Jinan 18
Shanghai 18
Nanchang 17
San Diego 15
Brussels 14
Shenyang 13
Changsha 12
Des Moines 12
Hebei 11
Jakarta 10
Zhengzhou 10
Tianjin 9
Rome 8
Los Angeles 7
Milan 7
Munich 7
Ningbo 7
Jiaxing 6
Toronto 6
Fuzhou 5
Hangzhou 5
London 5
Ottawa 5
Phoenix 5
Pune 5
San Francisco 5
Waanrode 5
Boardman 4
Falls Church 4
Orange 4
Haikou 3
Kunming 3
Napoli 3
Norwalk 3
Redwood City 3
Taizhou 3
Verona 3
Annapolis 2
Buffalo 2
Canberra 2
Castenedolo 2
Chiari 2
Chiswick 2
Frankfurt am Main 2
Guangzhou 2
Lanzhou 2
Lappeenranta 2
Leawood 2
Livorno 2
Melbourne 2
Padova 2
Redmond 2
Roncadelle 2
Taiyuan 2
Torino 2
Wappingers Falls 2
Washington 2
Amsterdam 1
Arezzo 1
Bollengo 1
Bristol 1
Castegnato 1
Central 1
Council Bluffs 1
East Orange 1
Falkenstein 1
Hayward 1
Hounslow 1
Indiana 1
Kelseyville 1
Little Rock 1
Mainz 1
Malonno 1
Montréal 1
Moscow 1
Nardò 1
Olomouc 1
Totale 3.394
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Nome #
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type 301
Further delineation of FKBP14-related Ehlers-Danlos syndrome: a patient with early vascular complications and non-progressive kyphoscoliosis, and literature review 244
High prevalence of radiological vertebral fractures in adult patients with Ehlers-Danlos syndrome 243
Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes 211
Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 209
Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers–Danlos syndrome, hypermobility type 209
Report on a patient with extremely fragile skin, dermatosparaxis, joint hypermobility, short stature, skeletal deformities, and lipomas: a new syndrome? 190
Molecular characterization and transcriptome-wide expression profiling of two patients affected with spondyloepimetaphyseal dysplasia with joint laxity type 181
Classic Ehlers-danlos syndrome: clinical and molecular characterisation of 37 patients 176
Clinical variability in two Macedonian families with Arterial tortuosity syndrome 163
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients 156
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type 149
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. 148
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type 120
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type 120
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders 111
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. 109
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder 107
COL6A5 variants in familial neuropathic chronic itch 106
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome 102
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review 100
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 97
Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review 91
A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing 90
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 89
Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity 88
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 69
Compound heterozygosity of the novel 186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa 63
Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry 29
Lessons From the Clinic: ADPKD Genetic Test Unraveling Severe Phenotype, Intrafamilial Variability, and New, Rare Causing Genotype 21
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3 15
Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review 10
Totale 4.117
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Categoria #
all - tutte 15.449
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 15.449
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020974 0 0 0 106 99 138 122 135 108 136 66 64
2020/2021731 25 99 38 89 44 71 36 70 72 91 52 44
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
2024/202529 4 5 4 16 0 0 0 0 0 0 0 0
Totale 4.117