IRIS
SANGIUOLO, FEDERICA CARLA
 Distribuzione geografica
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Continente #
NA - Nord America 42.944
EU - Europa 4.777
AS - Asia 4.466
SA - Sud America 729
AF - Africa 63
Continente sconosciuto - Info sul continente non disponibili 14
OC - Oceania 9
Totale 53.002
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Nazione #
US - Stati Uniti d'America 42.829
SG - Singapore 2.139
IT - Italia 968
CN - Cina 862
DE - Germania 702
RU - Federazione Russa 606
BR - Brasile 601
UA - Ucraina 489
IE - Irlanda 442
HK - Hong Kong 403
VN - Vietnam 393
FR - Francia 383
PL - Polonia 241
GB - Regno Unito 232
SE - Svezia 216
FI - Finlandia 163
JP - Giappone 139
KR - Corea 133
NL - Olanda 86
IN - India 82
CA - Canada 60
AR - Argentina 50
CZ - Repubblica Ceca 49
BD - Bangladesh 46
BE - Belgio 46
AT - Austria 44
ID - Indonesia 37
KG - Kirghizistan 37
MX - Messico 37
ES - Italia 33
IQ - Iraq 32
PK - Pakistan 30
TR - Turchia 29
ZA - Sudafrica 24
EC - Ecuador 18
CL - Cile 17
LT - Lituania 15
CO - Colombia 14
SA - Arabia Saudita 12
UZ - Uzbekistan 12
PY - Paraguay 10
RO - Romania 10
MY - Malesia 9
PH - Filippine 9
VE - Venezuela 9
JO - Giordania 8
MA - Marocco 8
AE - Emirati Arabi Uniti 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
EG - Egitto 5
MK - Macedonia 5
NO - Norvegia 5
PT - Portogallo 5
AL - Albania 4
CR - Costa Rica 4
DK - Danimarca 4
GR - Grecia 4
IL - Israele 4
KZ - Kazakistan 4
RS - Serbia 4
TH - Thailandia 4
TN - Tunisia 4
BH - Bahrain 3
DO - Repubblica Dominicana 3
JM - Giamaica 3
PE - Perù 3
SY - Repubblica araba siriana 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
NZ - Nuova Zelanda 2
OM - Oman 2
SI - Slovenia 2
TT - Trinidad e Tobago 2
AD - Andorra 1
BA - Bosnia-Erzegovina 1
BB - Barbados 1
BN - Brunei Darussalam 1
CI - Costa d'Avorio 1
CM - Camerun 1
CY - Cipro 1
DM - Dominica 1
EE - Estonia 1
GA - Gabon 1
Totale 52.986
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Città #
Woodbridge 11.828
Wilmington 10.754
Houston 9.732
Fairfield 1.380
Singapore 1.274
Ashburn 910
Ann Arbor 904
Chandler 784
Seattle 616
San Jose 531
Cambridge 508
Beijing 400
Hong Kong 393
Dublin 383
Rome 372
Jacksonville 350
Medford 299
New York 298
Dearborn 246
Santa Clara 212
Kraków 200
The Dalles 197
Dallas 166
Los Angeles 153
Lawrence 137
Menlo Park 136
Ho Chi Minh City 132
Tokyo 125
Lauterbourg 114
Council Bluffs 107
Moscow 92
Hanoi 87
Buffalo 74
Munich 73
Milan 72
São Paulo 71
San Diego 68
Boardman 52
Chicago 52
Brno 44
Helsinki 44
London 42
Nuremberg 39
Orem 38
Redondo Beach 35
Brussels 34
Palo Alto 34
Warsaw 34
Redwood City 30
Stockholm 29
Frankfurt am Main 27
Atlanta 26
Phoenix 26
Da Nang 25
Denver 24
Chennai 23
Jakarta 23
North Bergen 23
Hefei 22
Mülheim 22
Vienna 22
Zhengzhou 22
Montreal 21
Mountain View 21
Rio de Janeiro 21
Amsterdam 20
Johannesburg 20
Norwalk 20
Salt Lake City 18
Verona 18
Guangzhou 17
Manchester 17
Belo Horizonte 16
Brooklyn 16
Mumbai 16
Seoul 16
Haiphong 15
Jinan 15
San Francisco 15
Toronto 15
Baghdad 13
Curitiba 13
Naples 13
Poplar 13
Brasília 12
Florence 11
Genzano di Roma 11
La Veta 11
Nanjing 11
Tashkent 11
Turin 11
Boston 10
Columbus 10
Engelhard 10
Guayaquil 10
Querétaro 10
Saint Petersburg 10
Waanrode 10
Campinas 9
Detroit 9
Totale 45.505
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Nome #
A preliminary analysis of volatile metabolites of human induced pluripotent stem cells along the in vitro differentiation 582
Gene expression profile study in CFTR mutated bronchial cell lines 534
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 496
The lectin-like oxidized LDL receptor-1: A new potential molecular target in colorectal cancer 494
null 492
Identification of multipotent cytotrophoblast cells from human first trimester chorionic villi 490
TCF7L2 gene polymorphisms and type 2 diabetes: Association with diabetic retinopathy and cardiovascular autonomic neuropathy 485
Application of Next Generation Sequencing for personalized medicine for sudden cardiac death 477
Cloning and molecular characterization of three ubiquitin fusion degradation 1 (Ufd1) ortholog genes from Xenopus laevis, Gallus gallus and Drosophila melanogaster 473
Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene 472
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy 468
A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13 467
Expression analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissues. 465
Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: A novel recognizable microdeletion syndrome? 464
Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita 459
Transabdominal coelocentesis as early source of fetal DNA for chromosomal and molecular diagnosis 459
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
Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis 458
HFE gene variants and iron-induced oxygen radical generation in idiopathic pulmonary fibrosis 457
SMA human iPSC-derived motor neurons show perturbed differentiation and reduced miR-335-5P expression 455
Genotype-phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia 454
A perturbed MicroRNA expression pattern characterizes embryonic neural stem cells derived from a severe mouse model of spinal muscular atrophy (SMA) 454
Therapeutic strategies for the treatment of Spinal Muscular Atrophy (SMA) disease 452
Comparative analysis between saliva and buccal swabs as source of DNA: Lesson from HLA-B∗57:01 testing 449
Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26 449
Expression analysis and protein localization of the human HPC-1/syntaxin 1A, a gene deleted in Williams syndrome 448
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
Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism 444
Prenatal diagnosis of spinal muscular atrophy with respiratory distress (SMARD1) in a twin pregnancy [5] 444
Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3 443
In vitro restoration of functional SMN protein in human trophoblast cells affected by spinal muscular atrophy by small fragment homologous replacement 442
Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency 441
FLG (filaggrin) null mutations and sunlight exposure: Evidence of a correlation 441
3'-UTR OLR1/LOX-1 gene polymorphism and endothelial dysfunction: molecular and vascular data in never-treated hypertensive patients 440
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1 440
Pharmacogenetics of human androgens and prostatic diseases 440
Pharmacogenomics of multifactorial diseases: A focus on psoriatic arthritis 437
Isolation of CF cell lines corrected at ΔF508-CFTR locus by SFHR-mediated targeting 437
Reliable and versatile immortal muscle cell models from healthy and myotonic dystrophy type 1 primary human myoblasts 436
Assignment of the hexokinase type 3 gene (HK3) to human chromosome band 5q35.3 by somatic cell hybrids and in situ hybridization 435
Identification and characterization of 5' CCG interruptions in complex DMPK expanded alleles 435
Gene transfection efficiency of tracheal epithelial cells by DC-chol-DOPE/DNA complexes 433
A pilot beta-thalassaemia screening program in the Albanian population for a health planning program 431
Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome. 431
Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: A multicentric Italian study. 428
Diagnostic CFTR mutation analysis 422
Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome 420
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 420
Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations 419
Cftr gene targeting in mouse embryonic stem cells mediated by Small Fragment Homologous Replacement (SFHR) 417
Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency 416
Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L) 416
Assessing individual risk for AMD with genetic counseling, family history, and genetic testing 415
In vivo and in vitro studies support that a new splicing isoform of OLR1 gene is protective against acute myocardial infarction 414
The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences 413
Sequence-specific modification of mouse genomic DNA mediated by gene targeting techniques 412
MicroRNA genetic variations: association with type 2 diabetes 411
Cellular genetic therapy 409
A new method for direct analysis of polymerase chain reaction-amplified human papillomavirus using DNA enzyme immunoassay 407
The Gene targeting approach of small fragment homologous replacement (SFHR) alters the expression patterns of DNA repair and cell cycle control genes 406
Progress in Gene Therapy Research (Horizons in Cancer Research; Vol. 20) 405
Potential clinical applications of embryonic stem cells 404
Towards the pharmacogenomics of cystic fibrosis 404
The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female 404
Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population 402
Early hippocampal i-LTP and LOX-1 overexpression induced by anoxia: A potential role in neurodegeneration in NPC mouse model 402
Analysis of 14 cystic fibrosis mutations in five south European populations 400
Rescue of murine silica-induced lung injury and fibrosis by human embryonic stem cells 398
Small fragment homologous replacement: evaluation of factors influencing modification efficiency in an eukaryotic assay system 395
Non-invasive early prenatal molecular diagnosis using retrieved transcervical trophoblast cells 395
The molecular genetics of the DiGeorge syndrome 393
Generation of human induced pluripotent stem cells from extraembryonic tissues of fetuses affected by monogenic diseases 392
Molecular characterization of a frameshift mutation in exon 19 of the CFTR gene 392
Toward the pharmacogenomics of cystic fibrosis: an update 390
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 389
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
A serine-to-arginine (AGT-to-CGT) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosis 386
Polymorphic DNA haplotypes and delta F508 deletion in 212 Italian CF families 384
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 384
Human embryonic stem cells recover in vivo acute lung inflammation bleomycin-induced 383
Isolation and cloning by a polymerase chain reaction of a genomic DNA fragment of the human slow skeletal troponin (TNNT1) gene 383
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 378
Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene 374
Cellular uptake and delivery monitoring of liposome/DNA complexes during in vitro transfection of CFTR gene 374
Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy 373
Oligonucleotide-based gene targeting technologies. 371
lung epithelium 367
Gene therapy 357
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 354
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 351
Letter to the editor: exclusion of the elastin gene in the pathogenesis of Costello syndrome [4] 349
Simultaneous detection of delta F508, G542X, N1303K, G551D, and 1717-1G-->A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay 343
Coexistence of Two Novel Mutations in CDKN2A and PMS1 Genes in a Single Patient Identifies a New and Severe Cancer Predisposition Syndrome 343
Totale 42.404
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Categoria #
all - tutte 124.218
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 124.218
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021625 0 0 0 0 0 0 0 0 0 267 275 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
2025/20265.789 523 306 837 548 659 202 760 775 644 535 0 0
Totale 53.661