UNICA IRIS Institutional Research Information System

ADDIS, MARIA
 Distribuzione geografica
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Continente #
EU - Europa 38.934
NA - Nord America 2.583
AS - Asia 1.084
SA - Sud America 150
AF - Africa 12
OC - Oceania 2
Totale 42.765
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Nazione #
IT - Italia 37.194
US - Stati Uniti d'America 2.540
DE - Germania 739
CN - Cina 472
SG - Singapore 381
SE - Svezia 288
UA - Ucraina 271
BR - Brasile 112
GB - Regno Unito 92
RU - Federazione Russa 89
FI - Finlandia 68
VN - Vietnam 63
FR - Francia 59
KR - Corea 59
NL - Olanda 33
CA - Canada 30
BE - Belgio 19
HK - Hong Kong 13
IN - India 13
EC - Ecuador 12
ES - Italia 12
AR - Argentina 11
BD - Bangladesh 10
LT - Lituania 10
MX - Messico 10
AT - Austria 9
PL - Polonia 9
PT - Portogallo 9
ID - Indonesia 7
PK - Pakistan 7
TR - Turchia 7
AL - Albania 6
CH - Svizzera 6
JP - Giappone 6
CO - Colombia 5
IQ - Iraq 5
IR - Iran 5
SA - Arabia Saudita 5
VE - Venezuela 5
DK - Danimarca 4
AE - Emirati Arabi Uniti 3
AZ - Azerbaigian 3
IL - Israele 3
JO - Giordania 3
MY - Malesia 3
RO - Romania 3
TH - Thailandia 3
UZ - Uzbekistan 3
ZA - Sudafrica 3
BY - Bielorussia 2
CZ - Repubblica Ceca 2
EG - Egitto 2
HU - Ungheria 2
LA - Repubblica Popolare Democratica del Laos 2
LV - Lettonia 2
OM - Oman 2
PE - Perù 2
PY - Paraguay 2
SI - Slovenia 2
TN - Tunisia 2
AU - Australia 1
CG - Congo 1
CL - Cile 1
DZ - Algeria 1
EE - Estonia 1
GD - Grenada 1
HN - Honduras 1
IE - Irlanda 1
KE - Kenya 1
KG - Kirghizistan 1
LB - Libano 1
MA - Marocco 1
MD - Moldavia 1
MN - Mongolia 1
NP - Nepal 1
NZ - Nuova Zelanda 1
PS - Palestinian Territory 1
RS - Serbia 1
SN - Senegal 1
TT - Trinidad e Tobago 1
TW - Taiwan 1
Totale 42.765
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Città #
Cagliari 35.605
Ashburn 246
Uta 235
Chandler 217
Fairfield 217
Singapore 210
Woodbridge 202
Nyköping 175
Ann Arbor 142
Houston 136
Jacksonville 136
Boardman 123
Milan 98
Dallas 95
Dearborn 94
Rome 86
Wilmington 86
Beijing 80
Seattle 79
Cambridge 62
New York 58
Seoul 55
Shanghai 43
Los Angeles 42
Nanjing 42
Santa Clara 40
Hefei 35
Naples 33
Ho Chi Minh City 29
Helsinki 27
Bari 25
Padova 25
Boston 23
Turin 23
Buffalo 21
Napoli 21
Munich 20
Toronto 20
Palermo 17
Jiaxing 16
Catania 15
Redwood City 15
Bologna 13
Hanoi 13
Hong Kong 13
San Diego 13
Shenyang 13
The Dalles 13
Brussels 12
Como 12
Sassari 12
Zhengzhou 12
London 11
São Paulo 11
Changsha 10
Genoa 10
Hebei 10
Tianjin 10
Verona 10
Florence 9
Guangzhou 9
Nanchang 9
Monza 8
Augusta 7
Borso del Grappa 7
Manchester 7
Mountain View 7
Quito 7
Redondo Beach 7
Waanrode 7
Atlanta 6
Düsseldorf 6
Maia 6
Norwalk 6
Reggio Emilia 6
Rio de Janeiro 6
San Mateo 6
Warsaw 6
Auburn Hills 5
Frankfurt am Main 5
Jinan 5
Kunming 5
Nuremberg 5
Poplar 5
Porcia 5
Salerno 5
San Francisco 5
Turku 5
Valdagno 5
Washington 5
Aci Sant'Antonio 4
Bergamo 4
Brescia 4
Brooklyn 4
Cava Manara 4
Chieti 4
Civitanova Marche 4
Council Bluffs 4
Dong Ket 4
Empoli 4
Totale 39.399
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Nome #
The V736A TMPRSS6 polymorphism influences liver iron concentration in non-transfusion-dependent thalassemias 2.339
Presentazione di un caso clinico con Sindrome di Lowe diagnosticato con array-CGH 1.827
A new deletion in 5’-end of dystrophin gene removing M and P promoters and dystrophin muscle enhancers 1.587
Diagnosi Molecolare mediante TP-PCR in pazienti Sardi affetti da DM1 1.517
Prevention of homozygous beta-thalassemia by carrier screening and prenatal diagnosis in Sardinia 1.508
Analisi molecolare del gene OCRL1: la nostra esperienza di 10 anni di attività diagnostica 1.467
Triplet-Primed PCR Is More Sensitive Than Southern Blotting-Long PCR for the Diagnosis of Myotonic Dystrophy Type1 1.449
Cerebral cavernous malformations and unilateral moyamoya in a patient with a new mutation in the KRIT-1 /CCM1 gene. 1.246
null 1.189
null 1.176
Studio del gene KRIT-1 in famiglie sarde con malformazioni cerebrali cavernose 1.176
Mutazioni del gene OCRL1 in pazienti con malattia di Dent2 1.160
null 1.138
Un fenotipo atipico di malattia di Dent causato dalla co-ereditarietà di mutazioni presenti nei geni CLCN5 e OCRL1 1.113
null 1.112
An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes 1.104
Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations 1.050
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome 1.048
Identificazione di una nuova delezione interstiziale Xq25 mediante CGH microarray in un paziente con Sindrome di Lowe 1.022
Analisi molecolare della Sindrome di Lowe 1.008
A locus for familial skewed X chromosome inactivatio maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome 1.005
null 980
Molecular basis of beta-thalassemia intermedia in a southern Italian region (Puglia) 973
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 936
null 936
Familiare inattivazione non random del cromosoma X 919
First trimester diagnosis of beta-thalassemia in a twin pregnancy 892
null 870
FIRST TRIMESTER DIAGNOSIS OF B-THALASSEMIA IN A TWIN PREGNANCY.(SHORT COMMUNICATION) 846
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 374
null 369
C329X in KRIT1 is a founder mutation among CCM patients in Sardinia 355
Pigmentary mosaicism, subcortical band heterotopia, and brain cystic lesions 342
Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations 334
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome 286
Control of homozygous beta-thalassemia by carrier screening and antenatal diagnosis in Sardinia 278
Molecular analysis of beta zero-thalassemia intermedia in Sardinia 249
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome 244
HbH disease in Sardinia: molecular, hematological and clinical aspects 175
THALASSEMIA TYPES AND THEIR INCIDENCE IN SARDINIA 145
Homozygous non-deletion alpha 2 globin gene mutation (initiation codon mutation): clinical and haematological phenotype 138
OCRL mutation analysis in Italian patients with Lowe syndrome 122
Cytogenetic and molecular characterization of a variant translocation associated with acute promyelocytic leukemia and involving chromosomes 11, 15 and 17. 116
Interferon-alpha 2a therapy in CML: disappearance of BCR/ABL transcript in a case of long-lasting continuous cytogenetic conversion 68
Repeated PCR in CML during IFN-alpha therapy 49
Totale 42.839
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Categoria #
all - tutte 56.247
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 56.247
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20212.770 0 0 0 0 0 734 732 450 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
2024/20253.205 879 727 313 170 223 207 225 75 96 77 112 101
2025/20261.029 196 104 221 173 200 135 0 0 0 0 0 0
Totale 42.839