IRIS
SANGIUOLO, FEDERICA CARLA
 Distribuzione geografica
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Continente #
NA - Nord America 40.695
EU - Europa 3.639
AS - Asia 2.097
SA - Sud America 297
AF - Africa 14
Continente sconosciuto - Info sul continente non disponibili 13
OC - Oceania 7
Totale 46.762
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Nazione #
US - Stati Uniti d'America 40.672
SG - Singapore 1.136
IT - Italia 721
DE - Germania 634
UA - Ucraina 484
IE - Irlanda 438
CN - Cina 377
RU - Federazione Russa 279
HK - Hong Kong 273
BR - Brasile 260
FR - Francia 223
PL - Polonia 203
SE - Svezia 154
GB - Regno Unito 152
FI - Finlandia 133
KR - Corea 130
NL - Olanda 49
BE - Belgio 45
CZ - Repubblica Ceca 45
KG - Kirghizistan 37
AT - Austria 32
IN - India 20
ID - Indonesia 17
JP - Giappone 17
TR - Turchia 14
VN - Vietnam 14
PK - Pakistan 13
CA - Canada 11
CL - Cile 10
IQ - Iraq 10
AR - Argentina 9
RO - Romania 9
EC - Ecuador 7
MX - Messico 7
CH - Svizzera 6
EU - Europa 6
A2 - ???statistics.table.value.countryCode.A2??? 5
AU - Australia 5
BD - Bangladesh 5
IR - Iran 5
DK - Danimarca 4
EG - Egitto 4
ES - Italia 4
JO - Giordania 4
MA - Marocco 4
MK - Macedonia 4
NO - Norvegia 4
PH - Filippine 4
UZ - Uzbekistan 4
VE - Venezuela 4
AL - Albania 3
CO - Colombia 3
DO - Repubblica Dominicana 3
GR - Grecia 3
SA - Arabia Saudita 3
AE - Emirati Arabi Uniti 2
BG - Bulgaria 2
ET - Etiopia 2
IL - Israele 2
MY - Malesia 2
NZ - Nuova Zelanda 2
PT - Portogallo 2
PY - Paraguay 2
XK - ???statistics.table.value.countryCode.XK??? 2
AM - Armenia 1
AO - Angola 1
BH - Bahrain 1
BN - Brunei Darussalam 1
CY - Cipro 1
DM - Dominica 1
DZ - Algeria 1
EE - Estonia 1
KH - Cambogia 1
KZ - Kazakistan 1
LT - Lituania 1
LV - Lettonia 1
MD - Moldavia 1
NP - Nepal 1
OM - Oman 1
PE - Perù 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
SV - El Salvador 1
TN - Tunisia 1
UY - Uruguay 1
ZA - Sudafrica 1
Totale 46.762
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Città #
Woodbridge 11.828
Wilmington 10.753
Houston 9.718
Fairfield 1.379
Ann Arbor 904
Chandler 784
Singapore 765
Ashburn 654
Seattle 611
Cambridge 507
Dublin 381
Jacksonville 349
Rome 318
Medford 299
Hong Kong 267
Dearborn 246
New York 235
Kraków 200
Santa Clara 186
Beijing 166
Lawrence 137
Menlo Park 136
The Dalles 121
San Diego 67
Milan 59
Moscow 57
Boardman 51
Council Bluffs 45
Munich 45
Brno 44
Brussels 34
Palo Alto 34
Redwood City 30
São Paulo 29
Nuremberg 28
London 26
Hefei 22
Mülheim 22
Helsinki 21
Mountain View 21
Zhengzhou 21
Norwalk 20
Los Angeles 18
Chicago 17
Jakarta 17
Vienna 17
Verona 16
Jinan 15
Seoul 13
Naples 12
Genzano di Roma 11
Guangzhou 11
La Veta 11
Nanjing 11
Engelhard 10
Saint Petersburg 10
Waanrode 10
Belo Horizonte 9
Falls Church 9
Amsterdam 8
Rio de Janeiro 8
Salt Lake City 8
San Jose 8
Toronto 8
Frankfurt am Main 7
Hebei 7
Nanchang 7
Berlin 6
Detroit 6
Espoo 6
Hackensack 6
Hangzhou 6
Indiana 6
Kunming 6
Mumbai 6
North Bergen 6
Nürnberg 6
Pescara 6
Phoenix 6
Shanghai 6
Turin 6
University Park 6
Brasília 5
Center 5
Creede 5
Curitiba 5
Dong Ket 5
Hounslow 5
Kilburn 5
Lappeenranta 5
Porto Alegre 5
Rieti 5
San Francisco 5
Trieste 5
Xian 5
Atlanta 4
Baghdad 4
Brescia 4
Campinas 4
Chengdu 4
Totale 42.073
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Nome #
A preliminary analysis of volatile metabolites of human induced pluripotent stem cells along the in vitro differentiation 529
Gene expression profile study in CFTR mutated bronchial cell lines 510
Common polymorphisms in MIR146a, MIR128a and MIR27a genes contribute to neuropathy susceptibility in type 2 diabetes 471
Human induced pluripotent stem cells for monogenic disease modelling and therapy 457
The lectin-like oxidized LDL receptor-1: A new potential molecular target in colorectal cancer 450
Identification of multipotent cytotrophoblast cells from human first trimester chorionic villi 449
Targeted Next Generation Sequencing in patients with Myotonia Congenita 449
Analysis of intracellular distribution and apoptosis involvement of the Ufd1l gene product by over-expression studies 447
Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis 441
TCF7L2 gene polymorphisms and type 2 diabetes: Association with diabetic retinopathy and cardiovascular autonomic neuropathy 434
Transabdominal coelocentesis as early source of fetal DNA for chromosomal and molecular diagnosis 432
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy 430
Application of Next Generation Sequencing for personalized medicine for sudden cardiac death 429
The up-to-date molecular genetics of cystic fibrosis 429
Cloning and molecular characterization of three ubiquitin fusion degradation 1 (Ufd1) ortholog genes from Xenopus laevis, Gallus gallus and Drosophila melanogaster 427
In vitro restoration of functional SMN protein in human trophoblast cells affected by spinal muscular atrophy by small fragment homologous replacement 425
Expression analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissues. 425
Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency 425
Genotype-phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia 425
Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita 422
Therapeutic strategies for the treatment of Spinal Muscular Atrophy (SMA) disease 421
SMA human iPSC-derived motor neurons show perturbed differentiation and reduced miR-335-5P expression 421
In vitro correction of cystic fibrosis epithelial cell lines by small fragment homologous replacement (SFHR) technique 421
Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: A novel recognizable microdeletion syndrome? 420
HFE gene variants and iron-induced oxygen radical generation in idiopathic pulmonary fibrosis 419
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1 419
Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene 418
Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism 418
Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3 417
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 415
A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13 414
Prenatal diagnosis of spinal muscular atrophy with respiratory distress (SMARD1) in a twin pregnancy [5] 414
Isolation of CF cell lines corrected at ΔF508-CFTR locus by SFHR-mediated targeting 412
Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26 412
Expression analysis and protein localization of the human HPC-1/syntaxin 1A, a gene deleted in Williams syndrome 411
Pharmacogenomics of multifactorial diseases: A focus on psoriatic arthritis 411
Reliable and versatile immortal muscle cell models from healthy and myotonic dystrophy type 1 primary human myoblasts 411
A perturbed MicroRNA expression pattern characterizes embryonic neural stem cells derived from a severe mouse model of spinal muscular atrophy (SMA) 410
Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: A multicentric Italian study. 409
Assignment of the hexokinase type 3 gene (HK3) to human chromosome band 5q35.3 by somatic cell hybrids and in situ hybridization 409
Gene transfection efficiency of tracheal epithelial cells by DC-chol-DOPE/DNA complexes 408
FLG (filaggrin) null mutations and sunlight exposure: Evidence of a correlation 408
Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome. 407
Identification and characterization of 5' CCG interruptions in complex DMPK expanded alleles 407
Comparative analysis between saliva and buccal swabs as source of DNA: Lesson from HLA-B∗57:01 testing 406
Pharmacogenetics of human androgens and prostatic diseases 401
Diagnostic CFTR mutation analysis 398
In vivo and in vitro studies support that a new splicing isoform of OLR1 gene is protective against acute myocardial infarction 395
3'-UTR OLR1/LOX-1 gene polymorphism and endothelial dysfunction: molecular and vascular data in never-treated hypertensive patients 394
The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences 392
Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency 391
Sequence-specific modification of mouse genomic DNA mediated by gene targeting techniques 391
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 391
Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L) 388
Cftr gene targeting in mouse embryonic stem cells mediated by Small Fragment Homologous Replacement (SFHR) 386
Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome 385
Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations 385
A pilot beta-thalassaemia screening program in the Albanian population for a health planning program 384
MicroRNA genetic variations: association with type 2 diabetes 379
Potential clinical applications of embryonic stem cells 379
Towards the pharmacogenomics of cystic fibrosis 377
Progress in Gene Therapy Research (Horizons in Cancer Research; Vol. 20) 376
Small fragment homologous replacement: evaluation of factors influencing modification efficiency in an eukaryotic assay system 373
A new method for direct analysis of polymerase chain reaction-amplified human papillomavirus using DNA enzyme immunoassay 373
Cellular genetic therapy 372
The Gene targeting approach of small fragment homologous replacement (SFHR) alters the expression patterns of DNA repair and cell cycle control genes 372
Molecular characterization of a frameshift mutation in exon 19 of the CFTR gene 372
Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients 371
Polymorphic DNA haplotypes and delta F508 deletion in 212 Italian CF families 368
The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female 367
Generation of human induced pluripotent stem cells from extraembryonic tissues of fetuses affected by monogenic diseases 366
Rescue of murine silica-induced lung injury and fibrosis by human embryonic stem cells 365
Non-invasive early prenatal molecular diagnosis using retrieved transcervical trophoblast cells 365
The molecular genetics of the DiGeorge syndrome 364
Forensic applications of molecular genetic analysis: an Italian collaborative study on paternity testing by the determination of variable number of tandem repeat DNA polymorphisms 364
Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population 363
Assessing individual risk for AMD with genetic counseling, family history, and genetic testing 363
Isolation and cloning by a polymerase chain reaction of a genomic DNA fragment of the human slow skeletal troponin (TNNT1) gene 362
Polymerase chain reaction in the detection of mRNA transcripts from the slow skeletal troponin T (TNNT1) gene in myotonic dystrophy and normal muscle 361
Toward the pharmacogenomics of cystic fibrosis: an update 358
Sequence-specific modification of genomic DNA by small DNA fragments 358
Analysis of 14 cystic fibrosis mutations in five south European populations 358
Evidence for an association between the SRD5A2 (type II steroid 5 alpha-reductase) locus and prostate cancer in Italian patients 354
A serine-to-arginine (AGT-to-CGT) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosis 353
Cellular uptake and delivery monitoring of liposome/DNA complexes during in vitro transfection of CFTR gene 351
Human embryonic stem cells recover in vivo acute lung inflammation bleomycin-induced 349
Oligonucleotide-based gene targeting technologies. 349
lung epithelium 346
Early hippocampal i-LTP and LOX-1 overexpression induced by anoxia: A potential role in neurodegeneration in NPC mouse model 346
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 346
Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene 340
Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy 339
Small Fragment Homologous Replacement (SFHR): sequence-specific modification of genomic DNA in eukaryotic cells by small DNA fragments 338
Recessive congenital myotonia resulting from maternal isodisomy of chromosome 7: a case report 331
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 327
Gene therapy 326
Letter to the editor: exclusion of the elastin gene in the pathogenesis of Costello syndrome [4] 323
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C 320
Human embryonic stem cells recover in vivo acute lung inflammation bleomycin-induced 312
Letter to the editor: Exclusion of the elastin gene in the pathogenesis of Costello syndrome 311
Totale 39.212
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Categoria #
all - tutte 103.461
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 103.461
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20202.466 0 0 0 0 0 0 0 0 0 972 699 795
2020/20217.437 783 806 731 900 940 747 880 812 213 267 275 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
2024/20253.298 179 890 412 262 92 169 325 214 452 303 0 0
Totale 47.408