IRIS
SANGIUOLO, FEDERICA CARLA
 Distribuzione geografica
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Continente #
NA - Nord America 41.903
EU - Europa 4.054
AS - Asia 3.550
SA - Sud America 670
AF - Africa 47
Continente sconosciuto - Info sul continente non disponibili 13
OC - Oceania 8
Totale 50.245
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Nazione #
US - Stati Uniti d'America 41.817
SG - Singapore 1.794
IT - Italia 843
CN - Cina 723
DE - Germania 685
BR - Brasile 566
UA - Ucraina 488
IE - Irlanda 438
HK - Hong Kong 375
RU - Federazione Russa 293
FR - Francia 249
PL - Polonia 239
GB - Regno Unito 216
VN - Vietnam 205
SE - Svezia 179
FI - Finlandia 140
KR - Corea 133
NL - Olanda 66
IN - India 55
BE - Belgio 45
CA - Canada 45
CZ - Repubblica Ceca 45
AT - Austria 43
JP - Giappone 43
AR - Argentina 42
KG - Kirghizistan 37
ID - Indonesia 31
MX - Messico 31
TR - Turchia 26
BD - Bangladesh 25
ES - Italia 22
ZA - Sudafrica 21
PK - Pakistan 20
IQ - Iraq 19
EC - Ecuador 16
LT - Lituania 15
CL - Cile 14
PY - Paraguay 10
CO - Colombia 9
RO - Romania 9
UZ - Uzbekistan 8
AE - Emirati Arabi Uniti 7
CH - Svizzera 6
EU - Europa 6
IR - Iran 6
MA - Marocco 6
SA - Arabia Saudita 6
A2 - ???statistics.table.value.countryCode.A2??? 5
AU - Australia 5
JO - Giordania 5
MK - Macedonia 5
VE - Venezuela 5
AL - Albania 4
DK - Danimarca 4
EG - Egitto 4
IL - Israele 4
NO - Norvegia 4
PH - Filippine 4
BH - Bahrain 3
DO - Repubblica Dominicana 3
DZ - Algeria 3
GR - Grecia 3
KE - Kenya 3
MY - Malesia 3
NP - Nepal 3
PT - Portogallo 3
TH - Thailandia 3
TN - Tunisia 3
UY - Uruguay 3
AO - Angola 2
BG - Bulgaria 2
BO - Bolivia 2
ET - Etiopia 2
KZ - Kazakistan 2
NZ - Nuova Zelanda 2
OM - Oman 2
PE - Perù 2
RS - Serbia 2
XK - ???statistics.table.value.countryCode.XK??? 2
AM - Armenia 1
BB - Barbados 1
BN - Brunei Darussalam 1
BY - Bielorussia 1
CI - Costa d'Avorio 1
CR - Costa Rica 1
CY - Cipro 1
DM - Dominica 1
EE - Estonia 1
GA - Gabon 1
GE - Georgia 1
GT - Guatemala 1
GY - Guiana 1
HN - Honduras 1
JM - Giamaica 1
KH - Cambogia 1
LB - Libano 1
LV - Lettonia 1
MD - Moldavia 1
NG - Nigeria 1
PS - Palestinian Territory 1
Totale 50.240
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Città #
Woodbridge 11.828
Wilmington 10.754
Houston 9.728
Fairfield 1.379
Singapore 965
Ann Arbor 904
Ashburn 813
Chandler 784
Seattle 615
Cambridge 507
Beijing 393
Dublin 381
Hong Kong 368
Rome 351
Jacksonville 349
Medford 299
New York 288
Dearborn 246
Kraków 200
Santa Clara 200
Dallas 165
Los Angeles 145
The Dalles 143
Lawrence 137
Menlo Park 136
Munich 73
Buffalo 69
Ho Chi Minh City 68
San Diego 67
São Paulo 66
Milan 64
Moscow 58
Boardman 52
Council Bluffs 51
Brno 44
Chicago 44
Hanoi 42
Nuremberg 37
London 36
Redondo Beach 35
Brussels 34
Palo Alto 34
Warsaw 34
Redwood City 30
Tokyo 30
Stockholm 26
Denver 23
Phoenix 23
Hefei 22
Jakarta 22
Mülheim 22
Vienna 22
Zhengzhou 22
Helsinki 21
Mountain View 21
Rio de Janeiro 21
Norwalk 20
Frankfurt am Main 19
Orem 19
Johannesburg 18
Salt Lake City 18
Atlanta 17
Belo Horizonte 16
Brooklyn 16
Chennai 16
Guangzhou 16
Seoul 16
Verona 16
Jinan 15
Montreal 15
Amsterdam 14
Manchester 14
San Francisco 14
Curitiba 13
Naples 13
Poplar 13
Da Nang 12
Mumbai 12
Toronto 12
Brasília 11
Genzano di Roma 11
La Veta 11
Nanjing 11
San Jose 11
Turin 11
Columbus 10
Engelhard 10
Querétaro 10
Saint Petersburg 10
Waanrode 10
Boston 9
Campinas 9
Falls Church 9
Ankara 8
Elk Grove Village 8
Florence 8
Guayaquil 8
Mexico City 8
Porto Alegre 8
Baghdad 7
Totale 43.843
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Nome #
A preliminary analysis of volatile metabolites of human induced pluripotent stem cells along the in vitro differentiation 562
Gene expression profile study in CFTR mutated bronchial cell lines 521
Common polymorphisms in MIR146a, MIR128a and MIR27a genes contribute to neuropathy susceptibility in type 2 diabetes 492
Analysis of intracellular distribution and apoptosis involvement of the Ufd1l gene product by over-expression studies 489
The lectin-like oxidized LDL receptor-1: A new potential molecular target in colorectal cancer 472
Human induced pluripotent stem cells for monogenic disease modelling and therapy 471
TCF7L2 gene polymorphisms and type 2 diabetes: Association with diabetic retinopathy and cardiovascular autonomic neuropathy 469
Identification of multipotent cytotrophoblast cells from human first trimester chorionic villi 467
Targeted Next Generation Sequencing in patients with Myotonia Congenita 467
Cloning and molecular characterization of three ubiquitin fusion degradation 1 (Ufd1) ortholog genes from Xenopus laevis, Gallus gallus and Drosophila melanogaster 458
Application of Next Generation Sequencing for personalized medicine for sudden cardiac death 455
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy 454
Transabdominal coelocentesis as early source of fetal DNA for chromosomal and molecular diagnosis 452
Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis 452
Expression analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissues. 450
Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: A novel recognizable microdeletion syndrome? 446
A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13 444
HFE gene variants and iron-induced oxygen radical generation in idiopathic pulmonary fibrosis 443
Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene 441
Therapeutic strategies for the treatment of Spinal Muscular Atrophy (SMA) disease 439
SMA human iPSC-derived motor neurons show perturbed differentiation and reduced miR-335-5P expression 439
Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26 439
108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands 439
In vitro restoration of functional SMN protein in human trophoblast cells affected by spinal muscular atrophy by small fragment homologous replacement 438
In vitro correction of cystic fibrosis epithelial cell lines by small fragment homologous replacement (SFHR) technique 438
Genotype-phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia 438
The up-to-date molecular genetics of cystic fibrosis 437
Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita 435
A perturbed MicroRNA expression pattern characterizes embryonic neural stem cells derived from a severe mouse model of spinal muscular atrophy (SMA) 435
Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism 434
Expression analysis and protein localization of the human HPC-1/syntaxin 1A, a gene deleted in Williams syndrome 432
Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency 431
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1 430
Prenatal diagnosis of spinal muscular atrophy with respiratory distress (SMARD1) in a twin pregnancy [5] 430
Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3 429
Comparative analysis between saliva and buccal swabs as source of DNA: Lesson from HLA-B∗57:01 testing 428
Pharmacogenetics of human androgens and prostatic diseases 426
FLG (filaggrin) null mutations and sunlight exposure: Evidence of a correlation 426
Pharmacogenomics of multifactorial diseases: A focus on psoriatic arthritis 425
Isolation of CF cell lines corrected at ΔF508-CFTR locus by SFHR-mediated targeting 425
Reliable and versatile immortal muscle cell models from healthy and myotonic dystrophy type 1 primary human myoblasts 425
Identification and characterization of 5' CCG interruptions in complex DMPK expanded alleles 424
Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome. 422
Gene transfection efficiency of tracheal epithelial cells by DC-chol-DOPE/DNA complexes 422
Assignment of the hexokinase type 3 gene (HK3) to human chromosome band 5q35.3 by somatic cell hybrids and in situ hybridization 421
3'-UTR OLR1/LOX-1 gene polymorphism and endothelial dysfunction: molecular and vascular data in never-treated hypertensive patients 419
Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: A multicentric Italian study. 417
A pilot beta-thalassaemia screening program in the Albanian population for a health planning program 413
In vivo and in vitro studies support that a new splicing isoform of OLR1 gene is protective against acute myocardial infarction 410
Diagnostic CFTR mutation analysis 410
Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency 404
Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome 404
Cftr gene targeting in mouse embryonic stem cells mediated by Small Fragment Homologous Replacement (SFHR) 403
Sequence-specific modification of mouse genomic DNA mediated by gene targeting techniques 403
Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L) 403
Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations 403
Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe 403
The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences 400
Progress in Gene Therapy Research (Horizons in Cancer Research; Vol. 20) 396
MicroRNA genetic variations: association with type 2 diabetes 394
Assessing individual risk for AMD with genetic counseling, family history, and genetic testing 394
The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female 393
Potential clinical applications of embryonic stem cells 390
The Gene targeting approach of small fragment homologous replacement (SFHR) alters the expression patterns of DNA repair and cell cycle control genes 390
Towards the pharmacogenomics of cystic fibrosis 390
A new method for direct analysis of polymerase chain reaction-amplified human papillomavirus using DNA enzyme immunoassay 387
Cellular genetic therapy 386
Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population 384
Molecular characterization of a frameshift mutation in exon 19 of the CFTR gene 383
Non-invasive early prenatal molecular diagnosis using retrieved transcervical trophoblast cells 382
Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients 382
Rescue of murine silica-induced lung injury and fibrosis by human embryonic stem cells 381
Small fragment homologous replacement: evaluation of factors influencing modification efficiency in an eukaryotic assay system 380
Early hippocampal i-LTP and LOX-1 overexpression induced by anoxia: A potential role in neurodegeneration in NPC mouse model 380
Generation of human induced pluripotent stem cells from extraembryonic tissues of fetuses affected by monogenic diseases 379
Analysis of 14 cystic fibrosis mutations in five south European populations 379
Forensic applications of molecular genetic analysis: an Italian collaborative study on paternity testing by the determination of variable number of tandem repeat DNA polymorphisms 378
The molecular genetics of the DiGeorge syndrome 376
Toward the pharmacogenomics of cystic fibrosis: an update 375
Polymorphic DNA haplotypes and delta F508 deletion in 212 Italian CF families 374
Isolation and cloning by a polymerase chain reaction of a genomic DNA fragment of the human slow skeletal troponin (TNNT1) gene 372
Evidence for an association between the SRD5A2 (type II steroid 5 alpha-reductase) locus and prostate cancer in Italian patients 372
Polymerase chain reaction in the detection of mRNA transcripts from the slow skeletal troponin T (TNNT1) gene in myotonic dystrophy and normal muscle 371
Sequence-specific modification of genomic DNA by small DNA fragments 368
Next generation sequencing and linkage analysis for the molecular diagnosis of a novel overlapping syndrome characterized by hypertrophic cardiomyopathy and typical electrical instability of brugada syndrome 368
A serine-to-arginine (AGT-to-CGT) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosis 367
Cellular uptake and delivery monitoring of liposome/DNA complexes during in vitro transfection of CFTR gene 365
Human embryonic stem cells recover in vivo acute lung inflammation bleomycin-induced 364
Oligonucleotide-based gene targeting technologies. 361
Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy 359
Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene 357
lung epithelium 357
Small Fragment Homologous Replacement (SFHR): sequence-specific modification of genomic DNA in eukaryotic cells by small DNA fragments 346
Recessive congenital myotonia resulting from maternal isodisomy of chromosome 7: a case report 342
Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online 338
Gene therapy 338
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C 336
Letter to the editor: exclusion of the elastin gene in the pathogenesis of Costello syndrome [4] 333
Human embryonic stem cells recover in vivo acute lung inflammation bleomycin-induced 329
Simultaneous detection of delta F508, G542X, N1303K, G551D, and 1717-1G-->A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay 328
Totale 40.928
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Categoria #
all - tutte 118.445
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 118.445
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20213.277 0 0 0 0 0 747 880 812 213 267 275 83
2021/20221.641 68 137 48 142 67 198 93 105 128 126 139 390
2022/20231.938 196 182 43 226 202 419 181 126 202 6 110 45
2023/20241.097 152 46 72 16 73 256 25 107 18 41 42 249
2024/20253.762 179 890 412 262 92 169 325 214 452 306 275 186
2025/20263.023 523 306 837 548 659 150 0 0 0 0 0 0
Totale 50.895