UNICA IRIS Institutional Research Information System

ADDIS, MARIA
 Distribuzione geografica
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Continente #
EU - Europa 35.744
NA - Nord America 1.993
AS - Asia 316
SA - Sud America 3
AF - Africa 2
OC - Oceania 1
Totale 38.059
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Nazione #
IT - Italia 34.203
US - Stati Uniti d'America 1.974
DE - Germania 701
UA - Ucraina 271
SE - Svezia 251
CN - Cina 243
RU - Federazione Russa 85
FI - Finlandia 63
GB - Regno Unito 63
FR - Francia 40
SG - Singapore 23
CA - Canada 18
BE - Belgio 17
IN - India 10
NL - Olanda 9
ES - Italia 8
CH - Svizzera 6
PT - Portogallo 6
VN - Vietnam 6
IR - Iran 5
LT - Lituania 5
PK - Pakistan 5
KR - Corea 4
AL - Albania 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 38.059
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Città #
Cagliari 33.058
Chandler 217
Fairfield 217
Woodbridge 202
Nyköping 175
Ann Arbor 142
Jacksonville 136
Houston 135
Ashburn 116
Dearborn 94
Wilmington 86
Seattle 74
Milan 72
Rome 66
Cambridge 62
Boardman 49
New York 47
Nanjing 41
Shanghai 37
Beijing 29
Naples 28
Helsinki 27
Padova 25
Turin 22
Boston 21
Napoli 21
Palermo 17
Bari 16
Jiaxing 15
Redwood City 15
San Diego 13
Shenyang 13
Toronto 13
Como 12
Sassari 12
Bologna 11
Brussels 10
Catania 10
Hebei 10
Verona 10
Zhengzhou 10
Changsha 9
Florence 9
Nanchang 9
Genoa 8
Monza 8
Augusta 7
Borso del Grappa 7
Los Angeles 7
Mountain View 7
Waanrode 7
Maia 6
Norwalk 6
San Mateo 6
Auburn Hills 5
Guangzhou 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
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
Agrate Brianza 3
Anacapri 3
Avellino 3
Azor 3
Basiano 3
Bassano del Grappa 3
Biella 3
Caserta 3
Corfinio 3
Dumenza 3
Ferrara 3
Lecce 3
London 3
Mestre 3
Milazzo 3
Nicosia 3
Nocera Inferiore 3
Orange 3
Piacenza 3
Prato 3
Rho 3
Salerno 3
Selargius 3
Signa 3
Totale 35.647
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Nome #
The V736A TMPRSS6 polymorphism influences liver iron concentration in non-transfusion-dependent thalassemias 2.157
Presentazione di un caso clinico con Sindrome di Lowe diagnosticato con array-CGH 1.605
A new deletion in 5’-end of dystrophin gene removing M and P promoters and dystrophin muscle enhancers 1.442
Diagnosi Molecolare mediante TP-PCR in pazienti Sardi affetti da DM1 1.401
Triplet-Primed PCR Is More Sensitive Than Southern Blotting-Long PCR for the Diagnosis of Myotonic Dystrophy Type1 1.317
Analisi molecolare del gene OCRL1: la nostra esperienza di 10 anni di attività diagnostica 1.301
null 1.189
null 1.176
Cerebral cavernous malformations and unilateral moyamoya in a patient with a new mutation in the KRIT-1 /CCM1 gene. 1.160
null 1.138
null 1.112
Prevention of homozygous beta-thalassemia by carrier screening and prenatal diagnosis in Sardinia 1.109
Studio del gene KRIT-1 in famiglie sarde con malformazioni cerebrali cavernose 1.109
Mutazioni del gene OCRL1 in pazienti con malattia di Dent2 1.085
An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes 1.017
Un fenotipo atipico di malattia di Dent causato dalla co-ereditarietà di mutazioni presenti nei geni CLCN5 e OCRL1 992
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome 989
null 980
Identificazione di una nuova delezione interstiziale Xq25 mediante CGH microarray in un paziente con Sindrome di Lowe 968
Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations 960
Analisi molecolare della Sindrome di Lowe 940
A locus for familial skewed X chromosome inactivatio maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome 938
null 936
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 874
null 870
Familiare inattivazione non random del cromosoma X 840
null 829
FIRST TRIMESTER DIAGNOSIS OF B-THALASSEMIA IN A TWIN PREGNANCY.(SHORT COMMUNICATION) 787
First trimester diagnosis of beta-thalassemia in a twin pregnancy 763
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 286
Pigmentary mosaicism, subcortical band heterotopia, and brain cystic lesions 249
C329X in KRIT1 is a founder mutation among CCM patients in Sardinia 241
Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations 232
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome 189
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome 148
Control of homozygous beta-thalassemia by carrier screening and antenatal diagnosis in Sardinia 148
HbH disease in Sardinia: molecular, hematological and clinical aspects 97
Homozygous non-deletion alpha 2 globin gene mutation (initiation codon mutation): clinical and haematological phenotype 87
Molecular analysis of beta zero-thalassemia intermedia in Sardinia 72
Molecular basis of beta-thalassemia intermedia in a southern Italian region (Puglia) 62
Cytogenetic and molecular characterization of a variant translocation associated with acute promyelocytic leukemia and involving chromosomes 11, 15 and 17. 58
THALASSEMIA TYPES AND THEIR INCIDENCE IN SARDINIA 55
OCRL mutation analysis in Italian patients with Lowe syndrome 32
Interferon-alpha 2a therapy in CML: disappearance of BCR/ABL transcript in a case of long-lasting continuous cytogenetic conversion 26
Repeated PCR in CML during IFN-alpha therapy 25
Totale 38.133
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Categoria #
all - tutte 45.851
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 45.851
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019272 0 0 0 0 0 0 0 0 0 0 118 154
2019/202010.291 648 251 42 129 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
2023/20242.261 201 170 163 232 292 364 230 255 143 198 13 0
Totale 38.133