UNICA IRIS Institutional Research Information System

CAU, MILENA
 Distribuzione geografica
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Continente #
EU - Europa 35.588
NA - Nord America 3.057
AS - Asia 1.477
SA - Sud America 187
AF - Africa 23
OC - Oceania 2
Totale 40.334
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Nazione #
IT - Italia 34.295
US - Stati Uniti d'America 3.008
SG - Singapore 564
CN - Cina 556
DE - Germania 372
UA - Ucraina 294
SE - Svezia 251
BR - Brasile 151
VN - Vietnam 128
FI - Finlandia 91
FR - Francia 74
GB - Regno Unito 72
KR - Corea 55
RU - Federazione Russa 42
CA - Canada 31
IN - India 27
NL - Olanda 22
HK - Hong Kong 20
PK - Pakistan 17
BD - Bangladesh 16
BE - Belgio 16
AR - Argentina 14
AT - Austria 13
IQ - Iraq 13
ID - Indonesia 12
ES - Italia 10
JP - Giappone 9
MX - Messico 9
TR - Turchia 9
EC - Ecuador 8
PT - Portogallo 8
SA - Arabia Saudita 8
UZ - Uzbekistan 7
PL - Polonia 6
ZA - Sudafrica 6
AE - Emirati Arabi Uniti 5
AZ - Azerbaigian 4
JO - Giordania 4
LT - Lituania 4
PA - Panama 4
VE - Venezuela 4
AL - Albania 3
CL - Cile 3
CO - Colombia 3
EG - Egitto 3
HU - Ungheria 3
MY - Malesia 3
PE - Perù 3
PH - Filippine 3
TH - Thailandia 3
TN - Tunisia 3
CG - Congo 2
CH - Svizzera 2
CI - Costa d'Avorio 2
CR - Costa Rica 2
CZ - Repubblica Ceca 2
IR - Iran 2
LV - Lettonia 2
SN - Senegal 2
AU - Australia 1
BY - Bielorussia 1
CY - Cipro 1
DK - Danimarca 1
DO - Repubblica Dominicana 1
DZ - Algeria 1
EE - Estonia 1
ET - Etiopia 1
GR - Grecia 1
HN - Honduras 1
IL - Israele 1
KG - Kirghizistan 1
KZ - Kazakistan 1
LA - Repubblica Popolare Democratica del Laos 1
LB - Libano 1
LK - Sri Lanka 1
MA - Marocco 1
MD - Moldavia 1
MN - Mongolia 1
MU - Mauritius 1
NZ - Nuova Zelanda 1
OM - Oman 1
PS - Palestinian Territory 1
PY - Paraguay 1
QA - Qatar 1
RO - Romania 1
SV - El Salvador 1
TG - Togo 1
TW - Taiwan 1
Totale 40.334
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Città #
Cagliari 33.530
Woodbridge 342
Singapore 333
Fairfield 287
Ashburn 283
Uta 236
Chandler 197
Nyköping 164
Ann Arbor 155
Jacksonville 143
Houston 136
San Jose 128
Seattle 117
Boardman 116
Dallas 114
Wilmington 104
Beijing 99
Cambridge 88
Dearborn 80
Seoul 55
Ho Chi Minh City 51
Helsinki 47
New York 46
Shanghai 46
Santa Clara 44
Hefei 41
Nanjing 41
The Dalles 41
Rome 38
Lauterbourg 37
Los Angeles 33
Milan 29
Buffalo 26
Boston 25
Hanoi 25
Napoli 21
Padova 21
São Paulo 21
Hong Kong 20
Toronto 20
Shenyang 17
Jiaxing 16
Hebei 14
Munich 14
Brussels 13
Guangzhou 12
Augusta 11
Hangzhou 11
Orem 11
London 10
San Diego 10
Frankfurt am Main 9
Atlanta 8
Changsha 8
Council Bluffs 8
Da Nang 8
Nanchang 8
Norwalk 8
Redondo Beach 8
Brooklyn 7
Zhengzhou 7
Montreal 6
Palermo 6
Redwood City 6
San Mateo 6
Stockholm 6
Tashkent 6
Tianjin 6
Verona 6
Ankara 5
Baghdad 5
Borso del Grappa 5
Düsseldorf 5
Kunming 5
Naples 5
Sassari 5
Tokyo 5
Turku 5
Warsaw 5
Amman 4
Baku 4
Catania 4
Chicago 4
Haiphong 4
Jinan 4
Lahore 4
Maia 4
Mumbai 4
Nuremberg 4
Orange 4
Poplar 4
Portsmouth 4
Reggio Nell'emilia 4
Rio de Janeiro 4
Rockville 4
Salerno 4
San Francisco 4
Sialkot 4
Vienna 4
Wuhan 4
Totale 37.780
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Nome #
The V736A TMPRSS6 polymorphism influences liver iron concentration in non-transfusion-dependent thalassemias 2.358
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) 2.037
A new deletion in 5’-end of dystrophin gene removing M and P promoters and dystrophin muscle enhancers 1.609
Diagnosi Molecolare mediante TP-PCR in pazienti Sardi affetti da DM1 1.536
Analisi molecolare del gene OCRL1: la nostra esperienza di 10 anni di attività diagnostica 1.508
Triplet-Primed PCR Is More Sensitive Than Southern Blotting-Long PCR for the Diagnosis of Myotonic Dystrophy Type1 1.471
. “Variazioni al locus IL28B in pazienti sardi con talassemia major HCV positivi” 1.289
Responsiveness to oral iron and ascorbic acid in a patient with IRIDA 1.287
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 1.208
null 1.189
null 1.138
null 1.112
Identificazione di una nuova delezione interstiziale Xq25 mediante CGH microarray in un paziente con Sindrome di Lowe 1.038
A locus for familial skewed X chromosome inactivatio maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome 1.022
Analisi molecolare della Sindrome di Lowe 1.022
Eterogeneità molecolare delle emoglobinopatie e del difetto di G6PD in Sardegna 996
Mutazioni del gene TMPRSS6 associate a IR 977
Iron-deficiency anemia secondary to mutations in genes controlling hepcidin 971
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 951
Familiare inattivazione non random del cromosoma X 934
A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron 923
La mutazione del gene KRIT-1 è prevalente nei pazienti con CCM (Malformazioni Cerebrali Cavernose) 921
Homozygous deletion of HFE is the common cause of hemochromatosis in Sardinia 920
Thalassaemia and glucose-6-phosphate dehydrogenase screening in 13- to 14-year-old students of the Sardinian population: preliminary findings 890
Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy 718
31. Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier 638
Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy 627
null 611
Danon disease in a Sardinian family: different aspects of the same mutation-a case report 587
null 539
Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families 520
Diagnosis of DMD carrier status in a family with no known affected males 520
Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy 507
A report on 528 intragenic deletions detected in DMD and BMD patients by an Italian collaborative study 479
Novel nonsense mutation (C-->A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy 467
Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling 467
H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers 454
Identification of a novel T-insertion polymorphism at the DMD locus 451
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 451
Frequency of hemochromatosis C282Y and H63D mutations in Sardinia 448
C329X in KRIT1 is a founder mutation among CCM patients in Sardinia 372
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome 300
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome 265
Clinical and Genetic Heterogeneity of HCM: The Possible Role of a Deletion Involving MYH6 and MYH7 145
OCRL mutation analysis in Italian patients with Lowe syndrome 131
New case of contiguous gene syndrome at chromosome 8p11.2p12 129
Totale 40.399
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Categoria #
all - tutte 54.478
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 54.478
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021704 0 0 0 0 0 0 0 0 0 195 213 296
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
2024/20252.003 205 182 282 208 238 211 168 68 100 91 124 126
2025/20261.826 198 114 280 164 185 191 312 99 103 180 0 0
Totale 40.399