UNICA IRIS Institutional Research Information System

ADDIS, MARIA
 Distribuzione geografica
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Continente #
EU - Europa 38.055
NA - Nord America 2.085
AS - Asia 404
SA - Sud America 3
AF - Africa 2
OC - Oceania 1
Totale 40.550
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Nazione #
IT - Italia 36.501
US - Stati Uniti d'America 2.066
DE - Germania 703
UA - Ucraina 271
CN - Cina 264
SE - Svezia 252
RU - Federazione Russa 85
FI - Finlandia 63
GB - Regno Unito 63
SG - Singapore 54
FR - Francia 43
KR - Corea 40
CA - Canada 18
BE - Belgio 17
ES - Italia 10
IN - India 10
NL - Olanda 9
CH - Svizzera 6
PT - Portogallo 6
VN - Vietnam 6
AL - Albania 5
IR - Iran 5
LT - Lituania 5
PK - Pakistan 5
AT - Austria 3
ID - Indonesia 3
IL - Israele 3
RO - Romania 3
TH - Thailandia 3
DK - Danimarca 2
HU - Ungheria 2
JP - Giappone 2
MY - Malesia 2
PL - Polonia 2
SI - Slovenia 2
AR - Argentina 1
AU - Australia 1
BD - Bangladesh 1
BR - Brasile 1
BY - Bielorussia 1
CZ - Repubblica Ceca 1
DZ - Algeria 1
EC - Ecuador 1
MN - Mongolia 1
MX - Messico 1
OM - Oman 1
PS - Palestinian Territory 1
SA - Arabia Saudita 1
TN - Tunisia 1
TR - Turchia 1
TW - Taiwan 1
Totale 40.550
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Città #
Cagliari 35.037
Uta 235
Chandler 217
Fairfield 217
Woodbridge 202
Nyköping 175
Ann Arbor 142
Jacksonville 136
Houston 135
Boardman 123
Ashburn 122
Dearborn 94
Wilmington 86
Milan 79
Seattle 74
Rome 73
Cambridge 62
New York 47
Shanghai 43
Nanjing 41
Seoul 36
Beijing 30
Naples 30
Helsinki 27
Padova 25
Turin 22
Bari 21
Boston 21
Napoli 21
Singapore 18
Palermo 17
Jiaxing 16
Redwood City 15
Bologna 13
San Diego 13
Shenyang 13
Toronto 13
Catania 12
Como 12
Sassari 12
Los Angeles 11
Brussels 10
Genoa 10
Hebei 10
Verona 10
Zhengzhou 10
Changsha 9
Florence 9
Nanchang 9
Monza 8
Augusta 7
Borso del Grappa 7
Mountain View 7
Waanrode 7
Guangzhou 6
Maia 6
Norwalk 6
San Mateo 6
Auburn Hills 5
Jinan 5
Valdagno 5
Washington 5
Aci Sant'Antonio 4
Bergamo 4
Brescia 4
Cava Manara 4
Chieti 4
Civitanova Marche 4
Dong Ket 4
Empoli 4
Hefei 4
Kunming 4
Ningbo 4
Reggio Emilia 4
Reggio Nell'emilia 4
Rozzano 4
San Giorgio A Cremano 4
Sialkot 4
Taizhou 4
Tianjin 4
Treviso 4
Agrate Brianza 3
Anacapri 3
Avellino 3
Azor 3
Basiano 3
Bassano del Grappa 3
Biella 3
Bures-sur-Yvette 3
Caserta 3
Corfinio 3
Dumenza 3
Ferrara 3
Klagenfurt 3
Lecce 3
London 3
Marsicovetere 3
Mestre 3
Milazzo 3
Nicosia 3
Totale 38.028
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Nome #
The V736A TMPRSS6 polymorphism influences liver iron concentration in non-transfusion-dependent thalassemias 2.229
Presentazione di un caso clinico con Sindrome di Lowe diagnosticato con array-CGH 1.690
A new deletion in 5’-end of dystrophin gene removing M and P promoters and dystrophin muscle enhancers 1.498
Diagnosi Molecolare mediante TP-PCR in pazienti Sardi affetti da DM1 1.446
Prevention of homozygous beta-thalassemia by carrier screening and prenatal diagnosis in Sardinia 1.441
Triplet-Primed PCR Is More Sensitive Than Southern Blotting-Long PCR for the Diagnosis of Myotonic Dystrophy Type1 1.372
Analisi molecolare del gene OCRL1: la nostra esperienza di 10 anni di attività diagnostica 1.370
null 1.189
Cerebral cavernous malformations and unilateral moyamoya in a patient with a new mutation in the KRIT-1 /CCM1 gene. 1.187
null 1.176
null 1.138
Studio del gene KRIT-1 in famiglie sarde con malformazioni cerebrali cavernose 1.122
null 1.112
Mutazioni del gene OCRL1 in pazienti con malattia di Dent2 1.100
An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes 1.047
Un fenotipo atipico di malattia di Dent causato dalla co-ereditarietà di mutazioni presenti nei geni CLCN5 e OCRL1 1.036
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome 1.003
Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations 993
null 980
Identificazione di una nuova delezione interstiziale Xq25 mediante CGH microarray in un paziente con Sindrome di Lowe 979
Analisi molecolare della Sindrome di Lowe 959
A locus for familial skewed X chromosome inactivatio maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome 949
null 936
Molecular basis of beta-thalassemia intermedia in a southern Italian region (Puglia) 929
Studio molecolare di una paziente con Sindrome di Lowe dovuta ad una nuova mutazione nel gene OCRL1 e una familiare inattivazione del cromosoma X totalmente sbilanciata 887
null 870
Familiare inattivazione non random del cromosoma X 863
First trimester diagnosis of beta-thalassemia in a twin pregnancy 849
null 829
FIRST TRIMESTER DIAGNOSIS OF B-THALASSEMIA IN A TWIN PREGNANCY.(SHORT COMMUNICATION) 814
null 754
null 616
null 611
null 502
null 489
null 413
null 388
null 369
10. All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding 320
C329X in KRIT1 is a founder mutation among CCM patients in Sardinia 279
Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations 275
Pigmentary mosaicism, subcortical band heterotopia, and brain cystic lesions 275
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome 229
Control of homozygous beta-thalassemia by carrier screening and antenatal diagnosis in Sardinia 205
Molecular analysis of beta zero-thalassemia intermedia in Sardinia 195
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome 178
HbH disease in Sardinia: molecular, hematological and clinical aspects 123
Homozygous non-deletion alpha 2 globin gene mutation (initiation codon mutation): clinical and haematological phenotype 105
THALASSEMIA TYPES AND THEIR INCIDENCE IN SARDINIA 92
Cytogenetic and molecular characterization of a variant translocation associated with acute promyelocytic leukemia and involving chromosomes 11, 15 and 17. 72
OCRL mutation analysis in Italian patients with Lowe syndrome 62
Interferon-alpha 2a therapy in CML: disappearance of BCR/ABL transcript in a case of long-lasting continuous cytogenetic conversion 44
Repeated PCR in CML during IFN-alpha therapy 35
Totale 40.624
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Categoria #
all - tutte 50.103
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 50.103
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20209.350 0 0 0 129 4.208 2.644 1.315 286 149 109 181 329
2020/202110.799 297 276 314 4.419 2.723 734 732 450 73 182 239 360
2021/20223.090 111 81 374 241 152 223 315 357 267 231 324 414
2022/20233.876 574 868 595 214 341 276 157 235 187 161 139 129
2023/20242.733 201 170 163 232 292 364 230 255 143 198 247 238
2024/20252.019 879 727 313 100 0 0 0 0 0 0 0 0
Totale 40.624