IRIS
SANGIUOLO, FEDERICA CARLA
 Distribuzione geografica
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Continente #
NA - Nord America 43.332
EU - Europa 4.910
AS - Asia 4.632
SA - Sud America 729
AF - Africa 63
Continente sconosciuto - Info sul continente non disponibili 14
OC - Oceania 9
Totale 53.689
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Nazione #
US - Stati Uniti d'America 43.182
SG - Singapore 2.151
IT - Italia 1.090
CN - Cina 890
DE - Germania 703
RU - Federazione Russa 606
BR - Brasile 601
UA - Ucraina 489
IE - Irlanda 442
HK - Hong Kong 406
VN - Vietnam 396
FR - Francia 384
PL - Polonia 242
GB - Regno Unito 234
SE - Svezia 216
FI - Finlandia 163
BD - Bangladesh 157
JP - Giappone 140
KR - Corea 133
NL - Olanda 89
IN - India 83
CA - Canada 82
AR - Argentina 50
CZ - Repubblica Ceca 49
BE - Belgio 46
AT - Austria 44
ID - Indonesia 38
KG - Kirghizistan 37
MX - Messico 37
ES - Italia 35
IQ - Iraq 32
PK - Pakistan 31
TR - Turchia 29
ZA - Sudafrica 24
EC - Ecuador 18
CL - Cile 17
LT - Lituania 15
CO - Colombia 14
MY - Malesia 12
SA - Arabia Saudita 12
UZ - Uzbekistan 12
PY - Paraguay 10
RO - Romania 10
PH - Filippine 9
VE - Venezuela 9
AE - Emirati Arabi Uniti 8
JO - Giordania 8
MA - Marocco 8
CR - Costa Rica 7
IR - Iran 7
KE - Kenya 7
NP - Nepal 7
AU - Australia 6
CH - Svizzera 6
DZ - Algeria 6
EU - Europa 6
A2 - ???statistics.table.value.countryCode.A2??? 5
AL - Albania 5
EG - Egitto 5
JM - Giamaica 5
MK - Macedonia 5
NO - Norvegia 5
PT - Portogallo 5
TH - Thailandia 5
DK - Danimarca 4
GR - Grecia 4
IL - Israele 4
KZ - Kazakistan 4
RS - Serbia 4
TN - Tunisia 4
BH - Bahrain 3
DO - Repubblica Dominicana 3
GT - Guatemala 3
HN - Honduras 3
PE - Perù 3
SY - Repubblica araba siriana 3
TT - Trinidad e Tobago 3
UY - Uruguay 3
XK - ???statistics.table.value.countryCode.XK??? 3
AM - Armenia 2
AO - Angola 2
BG - Bulgaria 2
BO - Bolivia 2
BY - Bielorussia 2
ET - Etiopia 2
GE - Georgia 2
LV - Lettonia 2
MD - Moldavia 2
NG - Nigeria 2
NI - Nicaragua 2
NZ - Nuova Zelanda 2
OM - Oman 2
SI - Slovenia 2
SV - El Salvador 2
AD - Andorra 1
BA - Bosnia-Erzegovina 1
BB - Barbados 1
BN - Brunei Darussalam 1
CI - Costa d'Avorio 1
CM - Camerun 1
Totale 53.672
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Città #
Woodbridge 11.828
Wilmington 10.756
Houston 9.734
Fairfield 1.380
Singapore 1.279
Ashburn 940
Ann Arbor 904
Chandler 785
Seattle 618
San Jose 578
Cambridge 508
Beijing 400
Hong Kong 396
Rome 388
Dublin 383
Jacksonville 351
New York 319
Medford 299
Dearborn 246
Santa Clara 220
Kraków 200
The Dalles 197
Dallas 171
Los Angeles 163
Council Bluffs 159
Lawrence 137
Menlo Park 136
Ho Chi Minh City 133
Tokyo 125
Lauterbourg 114
Moscow 92
Hanoi 89
Milan 86
Buffalo 78
Munich 73
São Paulo 71
San Diego 69
Chicago 56
Boardman 52
Brno 44
Helsinki 44
London 42
Orem 40
Nuremberg 39
Redondo Beach 35
Warsaw 35
Brussels 34
Palo Alto 34
Monte Vista 30
Redwood City 30
Stockholm 29
Phoenix 28
Frankfurt am Main 27
Atlanta 26
Montreal 26
Da Nang 25
Denver 24
Chennai 23
Jakarta 23
North Bergen 23
Hefei 22
Mülheim 22
Vienna 22
Zhengzhou 22
Mountain View 21
Rio de Janeiro 21
Amsterdam 20
Johannesburg 20
Norwalk 20
Verona 19
Salt Lake City 18
Brooklyn 17
Guangzhou 17
Manchester 17
Toronto 17
Belo Horizonte 16
Mumbai 16
Naples 16
Seoul 16
Haiphong 15
Jinan 15
San Francisco 15
Baghdad 13
Curitiba 13
Florence 13
Poplar 13
Brasília 12
Columbus 12
Nanjing 12
Turin 12
Genzano di Roma 11
La Veta 11
Tashkent 11
Boston 10
Engelhard 10
Guayaquil 10
Querétaro 10
Saint Petersburg 10
Waanrode 10
Bologna 9
Totale 45.780
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Nome #
A preliminary analysis of volatile metabolites of human induced pluripotent stem cells along the in vitro differentiation 586
Gene expression profile study in CFTR mutated bronchial cell lines 535
Common polymorphisms in MIR146a, MIR128a and MIR27a genes contribute to neuropathy susceptibility in type 2 diabetes 510
Analysis of intracellular distribution and apoptosis involvement of the Ufd1l gene product by over-expression studies 506
Human induced pluripotent stem cells for monogenic disease modelling and therapy 498
The lectin-like oxidized LDL receptor-1: A new potential molecular target in colorectal cancer 497
Identification of multipotent cytotrophoblast cells from human first trimester chorionic villi 493
null 492
TCF7L2 gene polymorphisms and type 2 diabetes: Association with diabetic retinopathy and cardiovascular autonomic neuropathy 488
Application of Next Generation Sequencing for personalized medicine for sudden cardiac death 478
Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene 478
Cloning and molecular characterization of three ubiquitin fusion degradation 1 (Ufd1) ortholog genes from Xenopus laevis, Gallus gallus and Drosophila melanogaster 475
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy 470
Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis 470
Expression analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissues. 468
A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13 468
Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: A novel recognizable microdeletion syndrome? 464
HFE gene variants and iron-induced oxygen radical generation in idiopathic pulmonary fibrosis 463
A perturbed MicroRNA expression pattern characterizes embryonic neural stem cells derived from a severe mouse model of spinal muscular atrophy (SMA) 463
Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita 462
Transabdominal coelocentesis as early source of fetal DNA for chromosomal and molecular diagnosis 462
SMA human iPSC-derived motor neurons show perturbed differentiation and reduced miR-335-5P expression 462
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 459
Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism 458
Therapeutic strategies for the treatment of Spinal Muscular Atrophy (SMA) disease 457
Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26 455
Genotype-phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia 455
Comparative analysis between saliva and buccal swabs as source of DNA: Lesson from HLA-B∗57:01 testing 451
Expression analysis and protein localization of the human HPC-1/syntaxin 1A, a gene deleted in Williams syndrome 450
In vitro correction of cystic fibrosis epithelial cell lines by small fragment homologous replacement (SFHR) technique 448
The up-to-date molecular genetics of cystic fibrosis 446
Prenatal diagnosis of spinal muscular atrophy with respiratory distress (SMARD1) in a twin pregnancy [5] 446
In vitro restoration of functional SMN protein in human trophoblast cells affected by spinal muscular atrophy by small fragment homologous replacement 445
Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3 444
Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency 443
FLG (filaggrin) null mutations and sunlight exposure: Evidence of a correlation 443
Reliable and versatile immortal muscle cell models from healthy and myotonic dystrophy type 1 primary human myoblasts 442
3'-UTR OLR1/LOX-1 gene polymorphism and endothelial dysfunction: molecular and vascular data in never-treated hypertensive patients 441
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1 441
Pharmacogenetics of human androgens and prostatic diseases 441
Pharmacogenomics of multifactorial diseases: A focus on psoriatic arthritis 439
Isolation of CF cell lines corrected at ΔF508-CFTR locus by SFHR-mediated targeting 439
Gene transfection efficiency of tracheal epithelial cells by DC-chol-DOPE/DNA complexes 438
Identification and characterization of 5' CCG interruptions in complex DMPK expanded alleles 437
Assignment of the hexokinase type 3 gene (HK3) to human chromosome band 5q35.3 by somatic cell hybrids and in situ hybridization 435
Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome. 432
A pilot beta-thalassaemia screening program in the Albanian population for a health planning program 431
Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: A multicentric Italian study. 429
Diagnostic CFTR mutation analysis 423
Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L) 422
Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome 421
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 421
Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations 420
Cftr gene targeting in mouse embryonic stem cells mediated by Small Fragment Homologous Replacement (SFHR) 418
In vivo and in vitro studies support that a new splicing isoform of OLR1 gene is protective against acute myocardial infarction 417
Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency 417
Assessing individual risk for AMD with genetic counseling, family history, and genetic testing 415
Sequence-specific modification of mouse genomic DNA mediated by gene targeting techniques 414
The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences 413
MicroRNA genetic variations: association with type 2 diabetes 412
The Gene targeting approach of small fragment homologous replacement (SFHR) alters the expression patterns of DNA repair and cell cycle control genes 410
Progress in Gene Therapy Research (Horizons in Cancer Research; Vol. 20) 409
Cellular genetic therapy 409
A new method for direct analysis of polymerase chain reaction-amplified human papillomavirus using DNA enzyme immunoassay 408
Potential clinical applications of embryonic stem cells 406
Early hippocampal i-LTP and LOX-1 overexpression induced by anoxia: A potential role in neurodegeneration in NPC mouse model 405
The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female 405
Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population 404
Towards the pharmacogenomics of cystic fibrosis 404
Analysis of 14 cystic fibrosis mutations in five south European populations 402
Rescue of murine silica-induced lung injury and fibrosis by human embryonic stem cells 401
Non-invasive early prenatal molecular diagnosis using retrieved transcervical trophoblast cells 401
Small fragment homologous replacement: evaluation of factors influencing modification efficiency in an eukaryotic assay system 400
The molecular genetics of the DiGeorge syndrome 395
Generation of human induced pluripotent stem cells from extraembryonic tissues of fetuses affected by monogenic diseases 394
Molecular characterization of a frameshift mutation in exon 19 of the CFTR gene 393
Toward the pharmacogenomics of cystic fibrosis: an update 392
Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene 391
Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients 390
Evidence for an association between the SRD5A2 (type II steroid 5 alpha-reductase) locus and prostate cancer in Italian patients 390
Forensic applications of molecular genetic analysis: an Italian collaborative study on paternity testing by the determination of variable number of tandem repeat DNA polymorphisms 389
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 388
A serine-to-arginine (AGT-to-CGT) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosis 387
Human embryonic stem cells recover in vivo acute lung inflammation bleomycin-induced 386
Polymorphic DNA haplotypes and delta F508 deletion in 212 Italian CF families 385
Isolation and cloning by a polymerase chain reaction of a genomic DNA fragment of the human slow skeletal troponin (TNNT1) gene 384
Polymerase chain reaction in the detection of mRNA transcripts from the slow skeletal troponin T (TNNT1) gene in myotonic dystrophy and normal muscle 380
Sequence-specific modification of genomic DNA by small DNA fragments 379
Cellular uptake and delivery monitoring of liposome/DNA complexes during in vitro transfection of CFTR gene 378
Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy 374
Oligonucleotide-based gene targeting technologies. 372
lung epithelium 368
Gene therapy 359
Small Fragment Homologous Replacement (SFHR): sequence-specific modification of genomic DNA in eukaryotic cells by small DNA fragments 356
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 355
Recessive congenital myotonia resulting from maternal isodisomy of chromosome 7: a case report 353
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C 352
Coexistence of Two Novel Mutations in CDKN2A and PMS1 Genes in a Single Patient Identifies a New and Severe Cancer Predisposition Syndrome 352
Letter to the editor: exclusion of the elastin gene in the pathogenesis of Costello syndrome [4] 351
Simultaneous detection of delta F508, G542X, N1303K, G551D, and 1717-1G-->A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay 347
Totale 42.650
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Categoria #
all - tutte 129.592
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 129.592
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202183 0 0 0 0 0 0 0 0 0 0 0 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
2025/20266.518 523 306 837 548 659 202 760 775 644 597 429 238
Totale 54.390