UNICA IRIS Institutional Research Information System

CAU, MILENA
 Distribuzione geografica
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Continente #
EU - Europa 35.273
NA - Nord America 2.389
AS - Asia 503
SA - Sud America 26
OC - Oceania 2
AF - Africa 1
Totale 38.194
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Nazione #
IT - Italia 34.178
US - Stati Uniti d'America 2.362
DE - Germania 341
UA - Ucraina 292
CN - Cina 271
SE - Svezia 213
SG - Singapore 164
FI - Finlandia 62
GB - Regno Unito 55
RU - Federazione Russa 38
BR - Brasile 24
FR - Francia 24
KR - Corea 24
CA - Canada 22
NL - Olanda 18
BE - Belgio 16
IN - India 11
AT - Austria 8
PK - Pakistan 7
ES - Italia 6
PT - Portogallo 6
HK - Hong Kong 4
LT - Lituania 4
HU - Ungheria 3
PA - Panama 3
AE - Emirati Arabi Uniti 2
AZ - Azerbaigian 2
CH - Svizzera 2
CZ - Repubblica Ceca 2
IR - Iran 2
JP - Giappone 2
TH - Thailandia 2
AU - Australia 1
BY - Bielorussia 1
CR - Costa Rica 1
CY - Cipro 1
DK - Danimarca 1
EE - Estonia 1
ID - Indonesia 1
IL - Israele 1
IQ - Iraq 1
KG - Kirghizistan 1
LA - Repubblica Popolare Democratica del Laos 1
LV - Lettonia 1
MX - Messico 1
NZ - Nuova Zelanda 1
OM - Oman 1
PE - Perù 1
PS - Palestinian Territory 1
RO - Romania 1
SA - Arabia Saudita 1
TR - Turchia 1
UZ - Uzbekistan 1
VE - Venezuela 1
VN - Vietnam 1
ZA - Sudafrica 1
Totale 38.194
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Città #
Cagliari 33.452
Woodbridge 342
Fairfield 287
Uta 236
Chandler 197
Nyköping 164
Ann Arbor 155
Jacksonville 143
Houston 134
Ashburn 132
Boardman 116
Seattle 115
Wilmington 104
Singapore 89
Cambridge 88
Dearborn 80
Shanghai 45
Santa Clara 41
Nanjing 40
Rome 32
New York 28
Beijing 27
Milan 26
Boston 24
Seoul 24
Helsinki 23
Napoli 21
Padova 21
Toronto 19
Shenyang 17
Jiaxing 15
Hebei 14
Brussels 13
Augusta 11
Hangzhou 11
San Diego 10
Guangzhou 9
Los Angeles 9
Nanchang 8
Norwalk 8
Changsha 7
Zhengzhou 7
London 6
Palermo 6
Redwood City 6
San Mateo 6
Verona 6
Borso del Grappa 5
Hefei 5
Kunming 5
Naples 5
Sassari 5
Hong Kong 4
Jinan 4
Maia 4
Orange 4
Reggio Nell'emilia 4
Rockville 4
Salerno 4
Sialkot 4
Vienna 4
Avellino 3
Catania 3
Corfinio 3
Klagenfurt 3
Manduria 3
Mestre 3
Mountain View 3
Newark 3
Ningbo 3
Nocera Inferiore 3
Quartu Sant'elena 3
San Nicolò d'Arcidano 3
São Paulo 3
Vittuone 3
Waanrode 3
Wuhan 3
Auburn Hills 2
Baku 2
Bologna 2
Borås 2
Capaci 2
Caravaggio 2
Carmignano di Brenta 2
Caserta 2
Cava de' Tirreni 2
Chieti 2
Como 2
Cuiabá 2
Eboli 2
Fidenza 2
Florence 2
Gavirate 2
Genoa 2
Giugliano In Campania 2
Gravina di Catania 2
Haikou 2
Lisbon 2
Livorno 2
Millbury 2
Totale 36.529
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Nome #
The V736A TMPRSS6 polymorphism influences liver iron concentration in non-transfusion-dependent thalassemias 2.287
Turner syndrome mosaicism: an unusual case with a de novo large dicentric marker chromosome: mos 45,X/46,X, ter rea(X;X)(p22.3;p22.3) 1.973
A new deletion in 5’-end of dystrophin gene removing M and P promoters and dystrophin muscle enhancers 1.540
Diagnosi Molecolare mediante TP-PCR in pazienti Sardi affetti da DM1 1.484
Analisi molecolare del gene OCRL1: la nostra esperienza di 10 anni di attività diagnostica 1.418
Triplet-Primed PCR Is More Sensitive Than Southern Blotting-Long PCR for the Diagnosis of Myotonic Dystrophy Type1 1.414
. “Variazioni al locus IL28B in pazienti sardi con talassemia major HCV positivi” 1.239
Responsiveness to oral iron and ascorbic acid in a patient with IRIDA 1.229
Cerebral cavernous malformations and unilateral moyamoya in a patient with a new mutation in the KRIT-1 /CCM1 gene. 1.209
null 1.189
Studio del gene KRIT-1 in famiglie sarde con malformazioni cerebrali cavernose 1.138
null 1.138
null 1.112
Identificazione di una nuova delezione interstiziale Xq25 mediante CGH microarray in un paziente con Sindrome di Lowe 991
Analisi molecolare della Sindrome di Lowe 975
A locus for familial skewed X chromosome inactivatio maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome 962
Eterogeneità molecolare delle emoglobinopatie e del difetto di G6PD in Sardegna 962
Mutazioni del gene TMPRSS6 associate a IR 935
Iron-deficiency anemia secondary to mutations in genes controlling hepcidin 913
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 902
Familiare inattivazione non random del cromosoma X 877
A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron 867
La mutazione del gene KRIT-1 è prevalente nei pazienti con CCM (Malformazioni Cerebrali Cavernose) 864
Homozygous deletion of HFE is the common cause of hemochromatosis in Sardinia 862
Thalassaemia and glucose-6-phosphate dehydrogenase screening in 13- to 14-year-old students of the Sardinian population: preliminary findings 846
Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy 684
null 611
31. Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier 606
Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy 592
null 539
Danon disease in a Sardinian family: different aspects of the same mutation-a case report 492
Diagnosis of DMD carrier status in a family with no known affected males 492
Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families 482
Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy 471
Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling 454
A report on 528 intragenic deletions detected in DMD and BMD patients by an Italian collaborative study 445
Novel nonsense mutation (C-->A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy 435
Identification of a novel T-insertion polymorphism at the DMD locus 422
H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers 422
Two novel mutations (10410 T-->G; 10296 del C) at carboxy-terminus of the dystrophin gene associated with mental retardation. Mutations in brief no. 149. Online 417
Frequency of hemochromatosis C282Y and H63D mutations in Sardinia 414
C329X in KRIT1 is a founder mutation among CCM patients in Sardinia 315
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome 250
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome 200
New case of contiguous gene syndrome at chromosome 8p11.2p12 88
OCRL mutation analysis in Italian patients with Lowe syndrome 85
Clinical and Genetic Heterogeneity of HCM: The Possible Role of a Deletion Involving MYH6 and MYH7 17
Totale 38.259
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Categoria #
all - tutte 49.583
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 49.583
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020696 0 0 0 0 0 0 0 0 0 121 185 390
2020/202111.154 276 324 408 4.490 2.898 872 642 461 79 195 213 296
2021/20222.461 120 110 303 162 126 194 192 232 151 215 327 329
2022/20232.833 433 551 400 150 236 205 113 281 137 104 113 110
2023/20242.547 153 149 136 218 279 292 271 261 136 199 236 217
2024/20251.689 205 182 282 208 238 211 168 68 100 27 0 0
Totale 38.259