UNICA IRIS Institutional Research Information System

ADDIS, MARIA
 Distribuzione geografica
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Continente #
EU - Europa 39.121
NA - Nord America 2.926
AS - Asia 1.411
SA - Sud America 172
AF - Africa 23
OC - Oceania 2
Totale 43.655
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Nazione #
IT - Italia 37.301
US - Stati Uniti d'America 2.869
DE - Germania 747
SG - Singapore 545
CN - Cina 517
SE - Svezia 292
UA - Ucraina 271
VN - Vietnam 128
BR - Brasile 124
GB - Regno Unito 96
RU - Federazione Russa 89
FR - Francia 87
FI - Finlandia 85
KR - Corea 60
NL - Olanda 40
CA - Canada 36
HK - Hong Kong 25
IN - India 22
BE - Belgio 19
BD - Bangladesh 16
AR - Argentina 14
EC - Ecuador 13
ES - Italia 12
MX - Messico 12
AT - Austria 10
LT - Lituania 10
PK - Pakistan 10
PL - Polonia 10
PT - Portogallo 10
CH - Svizzera 8
ID - Indonesia 8
IQ - Iraq 8
TR - Turchia 8
VE - Venezuela 8
AL - Albania 7
JP - Giappone 7
SA - Arabia Saudita 7
AE - Emirati Arabi Uniti 6
CO - Colombia 6
IR - Iran 5
UZ - Uzbekistan 5
DK - Danimarca 4
IL - Israele 4
JO - Giordania 4
MY - Malesia 4
TH - Thailandia 4
ZA - Sudafrica 4
AZ - Azerbaigian 3
BY - Bielorussia 3
CL - Cile 3
DO - Repubblica Dominicana 3
DZ - Algeria 3
LV - Lettonia 3
RO - Romania 3
BG - Bulgaria 2
CG - Congo 2
CZ - Repubblica Ceca 2
EG - Egitto 2
HU - Ungheria 2
IE - Irlanda 2
KE - Kenya 2
LA - Repubblica Popolare Democratica del Laos 2
MD - Moldavia 2
MN - Mongolia 2
NP - Nepal 2
OM - Oman 2
PE - Perù 2
PH - Filippine 2
PY - Paraguay 2
SI - Slovenia 2
SN - Senegal 2
TN - Tunisia 2
TW - Taiwan 2
AU - Australia 1
CI - Costa d'Avorio 1
CR - Costa Rica 1
EE - Estonia 1
GD - Grenada 1
GT - Guatemala 1
HN - Honduras 1
JM - Giamaica 1
KG - Kirghizistan 1
LB - Libano 1
LY - Libia 1
MA - Marocco 1
MU - Mauritius 1
NG - Nigeria 1
NZ - Nuova Zelanda 1
PS - Palestinian Territory 1
RS - Serbia 1
RW - Ruanda 1
TT - Trinidad e Tobago 1
Totale 43.655
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Città #
Cagliari 35.662
Singapore 314
Ashburn 277
Uta 235
Chandler 217
Fairfield 217
Woodbridge 202
Nyköping 175
Ann Arbor 142
Houston 138
San Jose 138
Jacksonville 136
Boardman 123
Milan 104
Dallas 98
Dearborn 94
Rome 89
Wilmington 86
Beijing 84
Seattle 79
New York 67
Cambridge 62
Seoul 56
Los Angeles 54
Ho Chi Minh City 50
Shanghai 47
Helsinki 44
Nanjing 42
Santa Clara 41
Hefei 35
Naples 35
Lauterbourg 32
Hanoi 29
The Dalles 28
Bari 25
Padova 25
Boston 24
Buffalo 24
Turin 24
Hong Kong 23
Napoli 21
Toronto 21
Munich 20
Palermo 17
Jiaxing 16
Catania 15
Redwood City 15
Bologna 14
Shenyang 14
San Diego 13
São Paulo 13
Zhengzhou 13
Brussels 12
Como 12
Sassari 12
Council Bluffs 11
London 11
Changsha 10
Genoa 10
Hebei 10
Orem 10
Tianjin 10
Verona 10
Florence 9
Frankfurt am Main 9
Guangzhou 9
Nanchang 9
Manchester 8
Monza 8
Nuremberg 8
Atlanta 7
Augusta 7
Borso del Grappa 7
Brooklyn 7
Mountain View 7
Quito 7
Redondo Beach 7
Reggio Emilia 7
Waanrode 7
Da Nang 6
Düsseldorf 6
Maia 6
Norwalk 6
Rio de Janeiro 6
San Mateo 6
Warsaw 6
Washington 6
Auburn Hills 5
Guayaquil 5
Haiphong 5
Jinan 5
Kunming 5
Poplar 5
Porcia 5
Salerno 5
San Francisco 5
Tashkent 5
Turku 5
Valdagno 5
Aci Sant'Antonio 4
Totale 39.922
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Nome #
The V736A TMPRSS6 polymorphism influences liver iron concentration in non-transfusion-dependent thalassemias 2.365
Presentazione di un caso clinico con Sindrome di Lowe diagnosticato con array-CGH 1.886
A new deletion in 5’-end of dystrophin gene removing M and P promoters and dystrophin muscle enhancers 1.616
Diagnosi Molecolare mediante TP-PCR in pazienti Sardi affetti da DM1 1.547
Prevention of homozygous beta-thalassemia by carrier screening and prenatal diagnosis in Sardinia 1.527
Analisi molecolare del gene OCRL1: la nostra esperienza di 10 anni di attività diagnostica 1.515
Triplet-Primed PCR Is More Sensitive Than Southern Blotting-Long PCR for the Diagnosis of Myotonic Dystrophy Type1 1.474
Cerebral cavernous malformations and unilateral moyamoya in a patient with a new mutation in the KRIT-1 /CCM1 gene. 1.266
Studio del gene KRIT-1 in famiglie sarde con malformazioni cerebrali cavernose 1.210
null 1.189
Mutazioni del gene OCRL1 in pazienti con malattia di Dent2 1.186
null 1.176
Un fenotipo atipico di malattia di Dent causato dalla co-ereditarietà di mutazioni presenti nei geni CLCN5 e OCRL1 1.153
null 1.138
An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes 1.123
null 1.112
Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations 1.080
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome 1.070
Identificazione di una nuova delezione interstiziale Xq25 mediante CGH microarray in un paziente con Sindrome di Lowe 1.039
A locus for familial skewed X chromosome inactivatio maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome 1.027
Analisi molecolare della Sindrome di Lowe 1.024
Molecular basis of beta-thalassemia intermedia in a southern Italian region (Puglia) 1.002
null 980
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 952
Familiare inattivazione non random del cromosoma X 936
null 936
First trimester diagnosis of beta-thalassemia in a twin pregnancy 911
null 870
FIRST TRIMESTER DIAGNOSIS OF B-THALASSEMIA IN A TWIN PREGNANCY.(SHORT COMMUNICATION) 864
null 829
null 754
null 616
null 611
null 502
null 489
null 413
null 388
10. All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding 385
C329X in KRIT1 is a founder mutation among CCM patients in Sardinia 376
null 369
Pigmentary mosaicism, subcortical band heterotopia, and brain cystic lesions 364
Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations 353
Control of homozygous beta-thalassemia by carrier screening and antenatal diagnosis in Sardinia 304
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome 302
Molecular analysis of beta zero-thalassemia intermedia in Sardinia 281
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome 270
HbH disease in Sardinia: molecular, hematological and clinical aspects 202
THALASSEMIA TYPES AND THEIR INCIDENCE IN SARDINIA 168
Homozygous non-deletion alpha 2 globin gene mutation (initiation codon mutation): clinical and haematological phenotype 155
Cytogenetic and molecular characterization of a variant translocation associated with acute promyelocytic leukemia and involving chromosomes 11, 15 and 17. 141
OCRL mutation analysis in Italian patients with Lowe syndrome 132
Interferon-alpha 2a therapy in CML: disappearance of BCR/ABL transcript in a case of long-lasting continuous cytogenetic conversion 85
Repeated PCR in CML during IFN-alpha therapy 66
Totale 43.729
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Categoria #
all - tutte 58.488
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 58.488
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021360 0 0 0 0 0 0 0 0 0 0 0 360
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
2024/20253.205 879 727 313 170 223 207 225 75 96 77 112 101
2025/20261.919 196 104 221 173 200 206 290 125 86 197 98 23
Totale 43.729