UNICA IRIS Institutional Research Information System

CAU, MILENA
 Distribuzione geografica
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Continente #
EU - Europa 34.643
NA - Nord America 2.290
AS - Asia 371
OC - Oceania 1
Totale 37.305
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Nazione #
IT - Italia 33.586
US - Stati Uniti d'America 2.275
DE - Germania 339
UA - Ucraina 292
CN - Cina 268
SE - Svezia 211
FI - Finlandia 62
SG - Singapore 52
GB - Regno Unito 51
RU - Federazione Russa 38
KR - Corea 24
FR - Francia 21
BE - Belgio 15
CA - Canada 15
IN - India 11
NL - Olanda 7
ES - Italia 6
PK - Pakistan 5
PT - Portogallo 4
AT - Austria 3
CH - Svizzera 2
HU - Ungheria 2
IR - Iran 2
JP - Giappone 2
TH - Thailandia 2
AU - Australia 1
BY - Bielorussia 1
CY - Cipro 1
DK - Danimarca 1
ID - Indonesia 1
IL - Israele 1
LT - Lituania 1
OM - Oman 1
PS - Palestinian Territory 1
RO - Romania 1
Totale 37.305
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Città #
Cagliari 32.891
Woodbridge 342
Fairfield 287
Uta 236
Chandler 197
Nyköping 164
Ann Arbor 155
Jacksonville 143
Houston 134
Ashburn 129
Boardman 116
Seattle 115
Wilmington 104
Cambridge 88
Dearborn 80
Shanghai 45
Nanjing 40
New York 28
Beijing 27
Rome 25
Boston 24
Seoul 24
Helsinki 23
Milan 22
Napoli 21
Padova 21
Singapore 18
Shenyang 17
Jiaxing 15
Hebei 14
Toronto 14
Brussels 12
Augusta 11
Hangzhou 11
San Diego 10
Guangzhou 9
Nanchang 8
Norwalk 8
Changsha 7
Zhengzhou 7
Palermo 6
Redwood City 6
San Mateo 6
Verona 6
Borso del Grappa 5
Hefei 5
Los Angeles 5
Naples 5
Jinan 4
Kunming 4
London 4
Maia 4
Orange 4
Reggio Nell'emilia 4
Rockville 4
Sassari 4
Sialkot 4
Avellino 3
Catania 3
Corfinio 3
Klagenfurt 3
Mestre 3
Mountain View 3
Ningbo 3
Nocera Inferiore 3
Quartu Sant'elena 3
San Nicolò d'Arcidano 3
Vittuone 3
Waanrode 3
Wuhan 3
Auburn Hills 2
Bologna 2
Borås 2
Capaci 2
Caravaggio 2
Carmignano di Brenta 2
Caserta 2
Cava de' Tirreni 2
Chieti 2
Como 2
Eboli 2
Florence 2
Gavirate 2
Genoa 2
Giugliano In Campania 2
Gravina di Catania 2
Haikou 2
Livorno 2
Millbury 2
Mumbai 2
Negrar 2
Osimo 2
Prato 2
Quzhou 2
Raviscanina 2
Sacile 2
Salerno 2
San Giovanni la Punta 2
Santa Maria Capua Vetere 2
Sarno 2
Totale 35.821
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Nome #
The V736A TMPRSS6 polymorphism influences liver iron concentration in non-transfusion-dependent thalassemias 2.229
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) 1.896
A new deletion in 5’-end of dystrophin gene removing M and P promoters and dystrophin muscle enhancers 1.498
Diagnosi Molecolare mediante TP-PCR in pazienti Sardi affetti da DM1 1.446
Triplet-Primed PCR Is More Sensitive Than Southern Blotting-Long PCR for the Diagnosis of Myotonic Dystrophy Type1 1.372
Analisi molecolare del gene OCRL1: la nostra esperienza di 10 anni di attività diagnostica 1.370
. “Variazioni al locus IL28B in pazienti sardi con talassemia major HCV positivi” 1.222
Responsiveness to oral iron and ascorbic acid in a patient with IRIDA 1.209
null 1.189
Cerebral cavernous malformations and unilateral moyamoya in a patient with a new mutation in the KRIT-1 /CCM1 gene. 1.187
null 1.138
Studio del gene KRIT-1 in famiglie sarde con malformazioni cerebrali cavernose 1.122
null 1.112
Identificazione di una nuova delezione interstiziale Xq25 mediante CGH microarray in un paziente con Sindrome di Lowe 979
Analisi molecolare della Sindrome di Lowe 959
A locus for familial skewed X chromosome inactivatio maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome 949
Eterogeneità molecolare delle emoglobinopatie e del difetto di G6PD in Sardegna 947
Mutazioni del gene TMPRSS6 associate a IR 923
Iron-deficiency anemia secondary to mutations in genes controlling hepcidin 888
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 887
Familiare inattivazione non random del cromosoma X 863
A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron 853
La mutazione del gene KRIT-1 è prevalente nei pazienti con CCM (Malformazioni Cerebrali Cavernose) 852
Homozygous deletion of HFE is the common cause of hemochromatosis in Sardinia 848
Thalassaemia and glucose-6-phosphate dehydrogenase screening in 13- to 14-year-old students of the Sardinian population: preliminary findings 832
Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy 675
null 611
31. Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier 600
Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy 580
null 539
Diagnosis of DMD carrier status in a family with no known affected males 485
Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families 473
Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy 462
Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling 448
A report on 528 intragenic deletions detected in DMD and BMD patients by an Italian collaborative study 440
Novel nonsense mutation (C-->A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy 429
Identification of a novel T-insertion polymorphism at the DMD locus 415
H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers 413
Frequency of hemochromatosis C282Y and H63D mutations in Sardinia 407
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 403
Danon disease in a Sardinian family: different aspects of the same mutation-a case report 402
C329X in KRIT1 is a founder mutation among CCM patients in Sardinia 279
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome 229
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome 178
New case of contiguous gene syndrome at chromosome 8p11.2p12 65
OCRL mutation analysis in Italian patients with Lowe syndrome 62
Totale 37.365
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Categoria #
all - tutte 46.818
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 46.818
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20209.651 0 0 0 128 4.288 2.683 1.380 321 155 121 185 390
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
2024/2025795 205 182 282 126 0 0 0 0 0 0 0 0
Totale 37.365