UNICA IRIS Institutional Research Information System

CAU, MILENA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
EU - Europa 35.685
NA - Nord America 3.537
AS - Asia 1.490
SA - Sud America 201
Continente sconosciuto - Info sul continente non disponibili 65
AF - Africa 23
OC - Oceania 2
Totale 41.003
Salva come PNG Salva come JPEG
Nazione #
IT - Italia 34.375
US - Stati Uniti d'America 3.464
SG - Singapore 565
CN - Cina 556
DE - Germania 372
UA - Ucraina 294
SE - Svezia 258
BR - Brasile 163
VN - Vietnam 128
FI - Finlandia 91
FR - Francia 76
GB - Regno Unito 74
KR - Corea 56
CA - Canada 45
RU - Federazione Russa 42
IN - India 27
HK - Hong Kong 22
NL - Olanda 22
BD - Bangladesh 20
PK - Pakistan 17
BE - Belgio 16
AR - Argentina 14
AT - Austria 13
ES - Italia 13
IQ - Iraq 13
ID - Indonesia 12
JP - Giappone 11
MX - Messico 11
EC - Ecuador 10
TR - Turchia 9
PT - Portogallo 8
SA - Arabia Saudita 8
UZ - Uzbekistan 7
PL - Polonia 6
ZA - Sudafrica 6
AE - Emirati Arabi Uniti 5
AZ - Azerbaigian 4
CR - Costa Rica 4
JO - Giordania 4
LT - Lituania 4
PA - Panama 4
PH - Filippine 4
VE - Venezuela 4
AL - Albania 3
CH - Svizzera 3
CL - Cile 3
CO - Colombia 3
EE - Estonia 3
EG - Egitto 3
HU - Ungheria 3
IL - Israele 3
JM - Giamaica 3
MY - Malesia 3
PE - Perù 3
TH - Thailandia 3
TN - Tunisia 3
CG - Congo 2
CI - Costa d'Avorio 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
ET - Etiopia 1
GR - Grecia 1
GT - Guatemala 1
HN - Honduras 1
HT - Haiti 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
TT - Trinidad e Tobago 1
TW - Taiwan 1
Totale 40.938
Salva come PNG Salva come JPEG
Città #
Cagliari 33.584
Ashburn 400
Woodbridge 342
Singapore 334
Fairfield 287
Uta 236
Chandler 197
San Jose 193
Nyköping 164
Ann Arbor 155
Jacksonville 144
Houston 138
Dallas 120
Seattle 118
Boardman 117
Wilmington 105
Beijing 99
Cambridge 88
Dearborn 80
Seoul 55
Santa Clara 54
New York 52
Ho Chi Minh City 51
Helsinki 47
Shanghai 46
Rome 42
Hefei 41
Nanjing 41
The Dalles 41
Council Bluffs 40
Lauterbourg 37
Los Angeles 35
Milan 35
São Paulo 32
Buffalo 28
Boston 25
Hanoi 25
Toronto 25
Hong Kong 21
Napoli 21
Padova 21
Shenyang 17
Jiaxing 16
Hebei 14
Munich 14
Brussels 13
Orem 13
Guangzhou 12
Augusta 11
Hangzhou 11
London 11
San Diego 11
Atlanta 10
Brooklyn 10
Chicago 9
Frankfurt am Main 9
Norwalk 9
Changsha 8
Da Nang 8
Montreal 8
Nanchang 8
Redondo Beach 8
Naples 7
Phoenix 7
Zhengzhou 7
Palermo 6
Redwood City 6
San Mateo 6
Stockholm 6
Tashkent 6
Tianjin 6
Tokyo 6
Verona 6
Ankara 5
Baghdad 5
Borso del Grappa 5
Düsseldorf 5
Guayaquil 5
Kunming 5
Sassari 5
Turku 5
Warsaw 5
Amman 4
Baku 4
Catania 4
Haiphong 4
Jinan 4
Lahore 4
Maia 4
Mumbai 4
North Bergen 4
Nuremberg 4
Orange 4
Poplar 4
Portsmouth 4
Reggio Nell'emilia 4
Rio de Janeiro 4
Rockville 4
Salerno 4
San Francisco 4
Totale 38.132
Salva come PNG Salva come JPEG
Nome #
The V736A TMPRSS6 polymorphism influences liver iron concentration in non-transfusion-dependent thalassemias 2.373
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) 2.052
A new deletion in 5’-end of dystrophin gene removing M and P promoters and dystrophin muscle enhancers 1.629
Diagnosi Molecolare mediante TP-PCR in pazienti Sardi affetti da DM1 1.582
Analisi molecolare del gene OCRL1: la nostra esperienza di 10 anni di attività diagnostica 1.552
Triplet-Primed PCR Is More Sensitive Than Southern Blotting-Long PCR for the Diagnosis of Myotonic Dystrophy Type1 1.480
Responsiveness to oral iron and ascorbic acid in a patient with IRIDA 1.299
. “Variazioni al locus IL28B in pazienti sardi con talassemia major HCV positivi” 1.295
Cerebral cavernous malformations and unilateral moyamoya in a patient with a new mutation in the KRIT-1 /CCM1 gene. 1.272
Studio del gene KRIT-1 in famiglie sarde con malformazioni cerebrali cavernose 1.224
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 1.052
A locus for familial skewed X chromosome inactivatio maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome 1.036
Analisi molecolare della Sindrome di Lowe 1.034
Eterogeneità molecolare delle emoglobinopatie e del difetto di G6PD in Sardegna 1.006
Mutazioni del gene TMPRSS6 associate a IR 990
Iron-deficiency anemia secondary to mutations in genes controlling hepcidin 988
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 958
Familiare inattivazione non random del cromosoma X 940
A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron 935
Homozygous deletion of HFE is the common cause of hemochromatosis in Sardinia 930
La mutazione del gene KRIT-1 è prevalente nei pazienti con CCM (Malformazioni Cerebrali Cavernose) 930
Thalassaemia and glucose-6-phosphate dehydrogenase screening in 13- to 14-year-old students of the Sardinian population: preliminary findings 907
Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy 728
31. Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier 651
Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy 641
Danon disease in a Sardinian family: different aspects of the same mutation-a case report 615
null 611
null 539
Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families 533
Diagnosis of DMD carrier status in a family with no known affected males 530
Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy 513
A report on 528 intragenic deletions detected in DMD and BMD patients by an Italian collaborative study 487
Novel nonsense mutation (C-->A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy 474
Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling 470
H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers 469
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 467
Identification of a novel T-insertion polymorphism at the DMD locus 466
Frequency of hemochromatosis C282Y and H63D mutations in Sardinia 455
C329X in KRIT1 is a founder mutation among CCM patients in Sardinia 380
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome 316
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome 280
Clinical and Genetic Heterogeneity of HCM: The Possible Role of a Deletion Involving MYH6 and MYH7 195
New case of contiguous gene syndrome at chromosome 8p11.2p12 146
OCRL mutation analysis in Italian patients with Lowe syndrome 134
Totale 41.003
Salva come PNG Salva come JPEG
Categoria #
all - tutte 57.569
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 57.569
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.928 0 0 0 162 126 194 192 232 151 215 327 329
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
2025/20261.994 198 114 280 164 185 191 312 99 103 187 118 43
2026/2027436 25 46 207 158 0 0 0 0 0 0 0 0
Totale 41.003