IRIS Institutional Research Information System - AIR Archivio Istituzionale della Ricerca

DI PIERRO, ELENA
 Distribuzione geografica
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Continente #
EU - Europa 4.800
NA - Nord America 4.134
AS - Asia 3.989
SA - Sud America 382
AF - Africa 97
OC - Oceania 21
Continente sconosciuto - Info sul continente non disponibili 2
Totale 13.425
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Nazione #
US - Stati Uniti d'America 4.029
GB - Regno Unito 1.371
CN - Cina 1.299
SG - Singapore 1.188
IT - Italia 807
DE - Germania 498
SE - Svezia 481
RU - Federazione Russa 416
HK - Hong Kong 290
VN - Vietnam 288
UA - Ucraina 262
BR - Brasile 240
NL - Olanda 220
BD - Bangladesh 196
IN - India 186
FR - Francia 181
TR - Turchia 173
KR - Corea 161
IE - Irlanda 138
FI - Finlandia 122
PL - Polonia 101
EU - Europa 83
CO - Colombia 78
CA - Canada 64
JP - Giappone 54
CI - Costa d'Avorio 53
ES - Italia 39
ID - Indonesia 39
AR - Argentina 31
BE - Belgio 24
DK - Danimarca 24
AU - Australia 19
MX - Messico 17
CH - Svizzera 15
UZ - Uzbekistan 14
AT - Austria 13
GR - Grecia 13
PT - Portogallo 13
ZA - Sudafrica 13
IQ - Iraq 12
CL - Cile 10
IR - Iran 10
PH - Filippine 10
RO - Romania 10
AE - Emirati Arabi Uniti 9
BA - Bosnia-Erzegovina 7
BG - Bulgaria 7
EC - Ecuador 7
MY - Malesia 7
NP - Nepal 7
TN - Tunisia 7
TW - Taiwan 7
JM - Giamaica 6
DZ - Algeria 5
JO - Giordania 5
PE - Perù 5
SA - Arabia Saudita 5
SI - Slovenia 5
AL - Albania 4
AZ - Azerbaigian 4
BY - Bielorussia 4
CZ - Repubblica Ceca 4
HU - Ungheria 4
KG - Kirghizistan 4
LV - Lettonia 4
NO - Norvegia 4
TH - Thailandia 4
UY - Uruguay 4
CR - Costa Rica 3
DO - Repubblica Dominicana 3
EG - Egitto 3
KE - Kenya 3
MA - Marocco 3
PK - Pakistan 3
PY - Paraguay 3
SC - Seychelles 3
BO - Bolivia 2
EE - Estonia 2
GE - Georgia 2
HN - Honduras 2
IL - Israele 2
LB - Libano 2
LK - Sri Lanka 2
LT - Lituania 2
LU - Lussemburgo 2
PR - Porto Rico 2
TT - Trinidad e Tobago 2
VE - Venezuela 2
AO - Angola 1
BB - Barbados 1
BS - Bahamas 1
BT - Bhutan 1
CG - Congo 1
DM - Dominica 1
GM - Gambi 1
GT - Guatemala 1
HR - Croazia 1
IS - Islanda 1
KH - Cambogia 1
KN - Saint Kitts e Nevis 1
Totale 13.494
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Città #
Southend 1.221
Singapore 612
Ashburn 359
Beijing 309
Chandler 268
Hong Kong 268
Milan 266
Jacksonville 238
San Jose 237
Seattle 222
Santa Clara 180
Princeton 166
Dallas 160
Frankfurt am Main 152
Dublin 135
Wilmington 126
Nanjing 112
Dearborn 110
Council Bluffs 108
Bengaluru 99
Ann Arbor 97
New York 94
Los Angeles 90
Boardman 87
Redmond 84
Warsaw 84
Lauterbourg 74
Andover 69
Moscow 68
Hanoi 67
Serra 67
Bogotá 62
Ho Chi Minh City 60
Sakarya 60
Buffalo 58
Mountain View 58
Abidjan 53
Hefei 53
Shanghai 52
Des Moines 51
Redwood City 50
Guangzhou 48
Somerville 47
Woodbridge 44
Munich 42
Fairfield 39
Phoenix 39
Dong Ket 38
Seoul 37
Shenyang 37
Helsinki 35
Jinan 35
Nanchang 30
Houston 29
Rome 29
Tokyo 28
Istanbul 27
Rotterdam 25
Tianjin 25
Toronto 23
Udine 23
Zhengzhou 23
Cangzhou 22
Changsha 22
Sunnyvale 21
São Paulo 20
Pisa 19
Ottawa 18
San Diego 18
Kunming 17
Lanzhou 15
Turin 15
Bitonto 14
Cambridge 14
Brussels 13
Fuzhou 13
Hebei 13
Ypsilanti 13
Florence 12
Jakarta 12
Ningbo 12
Chicago 11
Haiphong 11
Jiaxing 11
Trieste 11
Turku 11
Atlanta 10
Brooklyn 10
Eau Claire 10
Shenzhen 10
Auburn Hills 9
Berlin 9
Bologna 9
Buenos Aires 9
Columbus 9
Detroit 9
Eitensheim 9
Hangzhou 9
Hirosaki 9
Hyderabad 9
Totale 7.977
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Nome #
Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy 772
Targeted resequencing of FECH locus reveals that a novel deep intronic pathogenic variant and eQTLs may cause erythropoietic protoporphyria (EPP) through a methylation-dependent mechanism 411
Seven novel genetic mutations within the 5′UTR and the housekeeping promoter of HMBS gene responsible for the non-erythroid form of acute intermittent porphyria 282
Novel human pathological mutations. Gene symbol : HMBS. Disease : porphyria, acute intermittent 276
A point mutation affecting an SP1 binding site in the promoter of ferrochelatase gene impairs gene transcription and causes erythropoietic protoporphyria 269
FMF and phenotype/genotype relationship : report of an Italian family 229
Alternative Pathway Involvement in Protoporphyria Patients Related to Sun Exposure 223
C-terminal deletion in the ALAS2 gene and X-linked dominant protoporphyria 215
The role of hypoxia and inflammation in the regulation of iron metabolism and erythropoiesis in COVID-19: The IRONCOVID study 210
Acute intermittent porphyria : heterogeneity of mutations in the hydroxymethylbilane synthase gene in Italy 210
Seven novel genetic mutations within the 5’utr and the housekeeping promoter of HMBS gene responsible for the non-erythroid form of acute intermittent porphyria 207
Laboratory diagnosis of thalassemia 207
Transcranial color Doppler in stroke-free adult patients with sickle cell disease 206
A 10376 bp deletion of FECH gene responsible for erythropoietic protoporphyria 205
Sonde per uso nella diagnosi di porfiria e per la quantificazione allelica dei geni relativi alla porfiria tramite reazioni di ligazione ed amplificazione. 202
C-terminal deletion in the ALAS2 gene and X-linked dominant protoporphyria 200
Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis 200
Digital PCR (dPCR) analysis reveals that the homozygous c.315–48T>C variant in the FECH gene might cause erythropoietic protoporphyria (EPP) 198
Molecular basis of β-Thalassemia intermedia in Erbil Province of Iraqi Kurdistan 197
Gene symbol : PPOX. Disease : Porphyria, variegate 196
Molecular characterization of porphyrias in Italy : a diagnostic flow-chart 195
Seven novel genetic mutations within the 5 ' UTR and the housekeeping promoter of HMBS gene responsible for the non-erythroid form of acute intermittent porphyria (vol 49, pg 147, 2012) 195
$\upalpha$-Lipoic Acid Improves Hepatic Metabolic Dysfunctions in Acute Intermittent Porphyria: A Proof-of-Concept Study [alpha-Lipoic Acid Improves Hepatic Metabolic Dysfunctions in Acute Intermittent Porphyria: A Proof-of-Concept Study] 192
Clinical, biochemical and genetic characteristics of Variegate Porphyria in Italy 191
Probes for use in diagnsing Porphyria and allelic quantification of porphyria related genes by ligation and amplification reactions - gene HMBS 184
Molecular heterogeneity of porphyria cutanea tarda in Italy : identification of three novel mutations in the uroporphyrinogen decarboxylase gene 182
Porphyrias at a glance : diagnosis and treatment 176
Does C-terminal deletion in the ALAS2 gene cause x-linked dominant or recessive protoporphyria? 176
The assessment of noncoding variant of PPOX gene in variegate porphyria reveals post-transcriptional role of the 5′ untranslated exon 1 173
Congenital microcytic anaemia does not always mean thalassemia 170
Laboratory diagnosis of porphyria 170
Nutrition and rare diseases: a case study of patients with acute intermittent porphyria (AIP) 168
Erythropoietic protoporphyria : genotype, phenotype and fluorocytes count relationship 166
Four novel mutations in the ferrochelatase (FECH) gene in patients with erythropoietic protoporphyria (EPP) 165
Gene symbol : HBMS. Disease : Porphyria, acute intermittent 165
Molecular heterogeneity of variegate porphyria in Italy 165
Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria : report of four novel mutations 164
An unusual diagnosis in a 31-year-old man with abdominal pain and hyponatremia 164
Common fetal hemoglobin variants in Lebanese patients bearing the codon 29 beta gene mutation associated with different thalassemia phenotypes 161
A novel mutation in the first Italian patient of hereditary coproporphyria 158
C-terminal deletion in the ALAS2 gene causes X-linked erythropoietic protoporphyria (EPP) despite of wild type fech gene 158
Ten novel mutations in the HMBS gene responsible for acute intermittent porphyria 157
Novel human pathological mutations. Gene symbol : HMBS. Disease : Porphyria, acute intermittent 157
Novel human pathological mutations. Gene symbol : CPOX. Disease : Coproporphyria 156
The α-Lipoic Acid Improves Hepatic Metabolic Dysfunctions in Acute Intermittent Porphyria: A Proof-of-Concept Study 155
Gene symbol: UROD. Disease: porphyria, cutaneous [in: Novel human pathological mutations] 152
Gene symbol : HMBS. Disease : porphyria, acute intermittent 151
Hematologically important mutations : acute intermittent porphyria 151
Molecular Characterization of a new long deletion in the ferrochelatase gene 149
Erythropoietic protoporphyria : genotype, phenotype and fluorocytes count relationship 146
A novel mutation in the first italian patient of hereditary coproporphyria 142
Novel human pathological mutations. Gene symbol : HMBS. Disease : porphyria, acute intermittent 140
Gene symbol : UROD. Disease : Porphyria, cutaneous [in: Novel human pathological mutations] 139
Molecular Heterogeneity of Variegate Porphyria in Italy 136
Gene symbol : HMBS. Disease : Porphyria, acute intermittent 136
Ten novel mutations in the HMBS gene responsible for acute intermittent porphyria 136
Congenital erythropoietic porphyria due to coinheritance of GATA1 and UROS gene mutations 135
Gene symbol: FECH. Disease: Porphyria, erythropoietic 134
Liver damage and sickle cell disease: genotype relationship 133
Large deletion of Cromosome 11 causes acute intermittent porphiryria in an Italian family 133
Gene symbol : FECH. Disease : Porphyria, erythropoietic 133
Two Functional mutations in cis of the Ferrochelatase Gene (FECH) Cause Erythropoietic protoporphyria (EPP) 132
Gene symbol: HMBS. Disease: Porphyria, acute intermittent 132
Gene symbol : CPOX 131
Gene symbol : HMBS. Disease : Porphyria, acute intermittent 130
Gene Symbol : PPOX. Disease : Variegate Porphyria 130
Gene symbol : PPOX. Disease: Porphyria, variegate [in: Novel human pathological mutations] 129
A large deletion on chromosome 11 in acute intermittent porphyria 129
Gene symbol : HMBS. Disease : Porphyria, acute intermittent [in: Novel human pathological mutations] 128
Novel human pathological mutations. Gene symbol : PPOX. Disease : porphyria, variegate 128
Molecular characterization of a new long deletion in the ferrochelatase gene 127
Gene symbol: FECH. Disease: porphyria, erythropoietic [in: Novel human pathological mutations] 126
Gene symbol : UROD 125
Human gene mutations. Gene symbol : FECH. Disease : Porphyria, erythropoietic 122
Gene symbol : FECH. Disease : Porphyria, erythropoietic 118
Gene symbol : HMBS [in: Novel human pathological mutations] 118
Congenital Erythropoietic Porphyria due to co-inheritance of GATA1 and UROS gene mutations 117
Novel human pathological mutations : gene symbol UROD - disease Porphyria, cutanea tarda 116
Multiplex ligation-dependent probe amplification : a novel approach for genetic diagnosis of Porphyria 111
Novel human pathological mutations : gene symbol CPOX - disease Coproporphyria 110
Molecular heterogeneity of porphyria cutanea tarda (PCT) in Italy: identification of three novel mutations in the uroporphyrinogen decarboxy-lase gene 103
null 6
Totale 14.092
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Categoria #
all - tutte 37.219
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 37.219
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022899 84 84 29 47 88 57 95 71 69 64 41 170
2022/20231.165 136 103 81 128 158 211 42 97 129 17 43 20
2023/2024723 12 59 31 33 226 44 26 44 23 46 75 104
2024/20251.946 100 190 56 147 236 52 63 195 92 191 172 452
2025/20263.679 391 252 368 302 335 250 394 180 340 288 301 278
2026/202790 90 0 0 0 0 0 0 0 0 0 0 0
Totale 14.092