UNICA IRIS Institutional Research Information System

CAU, MILENA
 Distribuzione geografica
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Continente #
EU - Europa 33.549
NA - Nord America 2.201
AS - Asia 296
OC - Oceania 1
Totale 36.047
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Nazione #
IT - Italia 32.498
US - Stati Uniti d'America 2.186
DE - Germania 339
UA - Ucraina 292
CN - Cina 252
SE - Svezia 209
FI - Finlandia 62
GB - Regno Unito 51
RU - Federazione Russa 38
FR - Francia 21
SG - Singapore 16
BE - Belgio 15
CA - Canada 15
IN - India 11
NL - Olanda 7
ES - Italia 5
PK - Pakistan 5
PT - Portogallo 4
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
KR - Corea 1
LT - Lituania 1
OM - Oman 1
PS - Palestinian Territory 1
RO - Romania 1
Totale 36.047
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Città #
Cagliari 32.057
Woodbridge 342
Fairfield 287
Chandler 197
Nyköping 164
Ann Arbor 155
Jacksonville 143
Houston 134
Ashburn 125
Seattle 115
Wilmington 104
Cambridge 88
Dearborn 80
Shanghai 41
Nanjing 40
Boardman 34
New York 28
Beijing 26
Boston 24
Rome 24
Helsinki 23
Milan 21
Napoli 21
Padova 21
Shenyang 17
Hebei 14
Jiaxing 14
Toronto 14
Brussels 12
Augusta 11
Hangzhou 10
San Diego 10
Nanchang 8
Norwalk 8
Changsha 7
Zhengzhou 7
Guangzhou 6
Palermo 6
Redwood City 6
San Mateo 6
Verona 6
Borso del Grappa 5
Hefei 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
Los Angeles 3
Mestre 3
Mountain View 3
Ningbo 3
Nocera Inferiore 3
Quartu Sant'elena 3
San Nicolò d'Arcidano 3
Vittuone 3
Waanrode 3
Auburn Hills 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
Millbury 2
Mumbai 2
Negrar 2
Osimo 2
Prato 2
Quzhou 2
Salerno 2
San Giovanni la Punta 2
Santa Maria Capua Vetere 2
Sarno 2
Tianjin 2
Wuhan 2
Ancona 1
Atella 1
Azor 1
Bacoli 1
Bagno A Ripoli 1
Baotou 1
Bari 1
Totale 34.606
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Nome #
The V736A TMPRSS6 polymorphism influences liver iron concentration in non-transfusion-dependent thalassemias 2.156
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) 1.706
A new deletion in 5’-end of dystrophin gene removing M and P promoters and dystrophin muscle enhancers 1.441
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 1.299
. “Variazioni al locus IL28B in pazienti sardi con talassemia major HCV positivi” 1.202
null 1.189
Responsiveness to oral iron and ascorbic acid in a patient with IRIDA 1.179
Cerebral cavernous malformations and unilateral moyamoya in a patient with a new mutation in the KRIT-1 /CCM1 gene. 1.159
null 1.138
null 1.112
Studio del gene KRIT-1 in famiglie sarde con malformazioni cerebrali cavernose 1.109
Identificazione di una nuova delezione interstiziale Xq25 mediante CGH microarray in un paziente con Sindrome di Lowe 967
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
Eterogeneità molecolare delle emoglobinopatie e del difetto di G6PD in Sardegna 924
Mutazioni del gene TMPRSS6 associate a IR 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 874
Iron-deficiency anemia secondary to mutations in genes controlling hepcidin 859
Familiare inattivazione non random del cromosoma X 840
La mutazione del gene KRIT-1 è prevalente nei pazienti con CCM (Malformazioni Cerebrali Cavernose) 837
A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron 832
Homozygous deletion of HFE is the common cause of hemochromatosis in Sardinia 822
Thalassaemia and glucose-6-phosphate dehydrogenase screening in 13- to 14-year-old students of the Sardinian population: preliminary findings 818
Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy 662
null 611
31. Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier 597
Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy 567
null 539
Diagnosis of DMD carrier status in a family with no known affected males 480
Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families 467
Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy 447
Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling 439
A report on 528 intragenic deletions detected in DMD and BMD patients by an Italian collaborative study 429
Novel nonsense mutation (C-->A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy 425
Identification of a novel T-insertion polymorphism at the DMD locus 409
H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers 405
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 396
Frequency of hemochromatosis C282Y and H63D mutations in Sardinia 393
C329X in KRIT1 is a founder mutation among CCM patients in Sardinia 238
Danon disease in a Sardinian family: different aspects of the same mutation-a case report 216
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
New case of contiguous gene syndrome at chromosome 8p11.2p12 47
OCRL mutation analysis in Italian patients with Lowe syndrome 31
Totale 36.107
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Categoria #
all - tutte 43.890
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 43.890
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019352 0 0 0 0 0 0 0 0 0 71 120 161
2019/202010.636 668 266 51 128 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
2023/20242.084 153 149 136 218 279 292 271 261 136 189 0 0
Totale 36.107