IRIS
SANGIUOLO, FEDERICA CARLA
 Distribuzione geografica
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Continente #
NA - Nord America 40.196
EU - Europa 3.212
AS - Asia 1.158
SA - Sud America 30
Continente sconosciuto - Info sul continente non disponibili 11
AF - Africa 7
OC - Oceania 7
Totale 44.621
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Nazione #
US - Stati Uniti d'America 40.184
DE - Germania 592
SG - Singapore 586
IT - Italia 570
UA - Ucraina 483
IE - Irlanda 438
CN - Cina 325
FR - Francia 221
PL - Polonia 203
SE - Svezia 154
GB - Regno Unito 146
KR - Corea 130
RU - Federazione Russa 125
FI - Finlandia 120
CZ - Repubblica Ceca 45
BE - Belgio 43
KG - Kirghizistan 35
NL - Olanda 25
BR - Brasile 17
JP - Giappone 17
IN - India 16
VN - Vietnam 12
CL - Cile 10
CA - Canada 9
HK - Hong Kong 9
RO - Romania 9
AT - Austria 6
EU - Europa 6
A2 - ???statistics.table.value.countryCode.A2??? 5
AU - Australia 5
CH - Svizzera 5
PK - Pakistan 5
TR - Turchia 5
DK - Danimarca 4
IR - Iran 4
MK - Macedonia 4
NO - Norvegia 4
AL - Albania 3
EG - Egitto 3
ES - Italia 3
SA - Arabia Saudita 3
AE - Emirati Arabi Uniti 2
AR - Argentina 2
BD - Bangladesh 2
ET - Etiopia 2
GR - Grecia 2
MX - Messico 2
MY - Malesia 2
NZ - Nuova Zelanda 2
PT - Portogallo 2
AM - Armenia 1
BG - Bulgaria 1
CY - Cipro 1
DM - Dominica 1
EC - Ecuador 1
EE - Estonia 1
IQ - Iraq 1
JO - Giordania 1
KZ - Kazakistan 1
LV - Lettonia 1
MA - Marocco 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
ZA - Sudafrica 1
Totale 44.621
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Città #
Woodbridge 11.828
Wilmington 10.752
Houston 9.718
Fairfield 1.379
Ann Arbor 904
Chandler 792
Ashburn 643
Seattle 611
Singapore 510
Cambridge 507
Dublin 381
Jacksonville 349
Medford 299
Dearborn 246
Rome 241
New York 239
Kraków 200
Beijing 165
Lawrence 138
Menlo Park 136
Santa Clara 128
San Diego 67
Moscow 56
Milan 53
Boardman 51
Brno 44
Palo Alto 34
Brussels 33
Munich 32
Redwood City 30
London 23
Hefei 22
Mülheim 22
Mountain View 21
Zhengzhou 21
Norwalk 20
Helsinki 16
Verona 16
Jinan 15
Los Angeles 15
Seoul 13
Genzano di Roma 11
La Veta 11
Nanjing 11
Engelhard 10
Saint Petersburg 10
Waanrode 10
Chicago 9
Falls Church 9
Nuremberg 9
São Paulo 9
Salt Lake City 8
San Jose 8
Hebei 7
Nanchang 7
Toronto 7
Detroit 6
Guangzhou 6
Hackensack 6
Hangzhou 6
Indiana 6
Kunming 6
Naples 6
Nürnberg 6
Pescara 6
Turin 6
University Park 6
Berlin 5
Center 5
Creede 5
Dong Ket 5
Hounslow 5
Kilburn 5
Mumbai 5
Phoenix 5
Rieti 5
San Francisco 5
Xian 5
Atlanta 4
Brescia 4
Florence 4
Hong Kong 4
New Bedfont 4
Oslo 4
Prescot 4
Redmond 4
San Mateo 4
Tetovo 4
Tokyo 4
Vienna 4
Bari 3
Chengdu 3
Council Bluffs 3
Francavilla al Mare 3
Frankfurt am Main 3
Genoa 3
Genzano Di Roma 3
Islington 3
Lappeenranta 3
Olympia 3
Totale 41.105
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Nome #
A preliminary analysis of volatile metabolites of human induced pluripotent stem cells along the in vitro differentiation 514
Gene expression profile study in CFTR mutated bronchial cell lines 488
Common polymorphisms in MIR146a, MIR128a and MIR27a genes contribute to neuropathy susceptibility in type 2 diabetes 457
Human induced pluripotent stem cells for monogenic disease modelling and therapy 444
Analysis of intracellular distribution and apoptosis involvement of the Ufd1l gene product by over-expression studies 438
Identification of multipotent cytotrophoblast cells from human first trimester chorionic villi 437
Targeted Next Generation Sequencing in patients with Myotonia Congenita 437
The lectin-like oxidized LDL receptor-1: A new potential molecular target in colorectal cancer 435
Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis 432
Transabdominal coelocentesis as early source of fetal DNA for chromosomal and molecular diagnosis 424
TCF7L2 gene polymorphisms and type 2 diabetes: Association with diabetic retinopathy and cardiovascular autonomic neuropathy 424
Cloning and molecular characterization of three ubiquitin fusion degradation 1 (Ufd1) ortholog genes from Xenopus laevis, Gallus gallus and Drosophila melanogaster 421
Application of Next Generation Sequencing for personalized medicine for sudden cardiac death 419
The up-to-date molecular genetics of cystic fibrosis 417
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy 416
In vitro restoration of functional SMN protein in human trophoblast cells affected by spinal muscular atrophy by small fragment homologous replacement 415
Therapeutic strategies for the treatment of Spinal Muscular Atrophy (SMA) disease 414
Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency 414
Expression analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissues. 411
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1 411
SMA human iPSC-derived motor neurons show perturbed differentiation and reduced miR-335-5P expression 410
Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3 409
Genotype-phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia 409
Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita 408
Prenatal diagnosis of spinal muscular atrophy with respiratory distress (SMARD1) in a twin pregnancy [5] 407
null 405
Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene 405
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 405
Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism 404
In vitro correction of cystic fibrosis epithelial cell lines by small fragment homologous replacement (SFHR) technique 404
Assignment of the hexokinase type 3 gene (HK3) to human chromosome band 5q35.3 by somatic cell hybrids and in situ hybridization 402
Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26 402
Expression analysis and protein localization of the human HPC-1/syntaxin 1A, a gene deleted in Williams syndrome 400
A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13 399
Isolation of CF cell lines corrected at ΔF508-CFTR locus by SFHR-mediated targeting 399
Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome. 398
Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: A novel recognizable microdeletion syndrome? 397
Pharmacogenomics of multifactorial diseases: A focus on psoriatic arthritis 396
Gene transfection efficiency of tracheal epithelial cells by DC-chol-DOPE/DNA complexes 396
A perturbed MicroRNA expression pattern characterizes embryonic neural stem cells derived from a severe mouse model of spinal muscular atrophy (SMA) 396
FLG (filaggrin) null mutations and sunlight exposure: Evidence of a correlation 396
Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: A multicentric Italian study. 395
Identification and characterization of 5' CCG interruptions in complex DMPK expanded alleles 395
Pharmacogenetics of human androgens and prostatic diseases 392
Diagnostic CFTR mutation analysis 391
Reliable and versatile immortal muscle cell models from healthy and myotonic dystrophy type 1 primary human myoblasts 390
In vivo and in vitro studies support that a new splicing isoform of OLR1 gene is protective against acute myocardial infarction 388
Comparative analysis between saliva and buccal swabs as source of DNA: Lesson from HLA-B∗57:01 testing 387
3'-UTR OLR1/LOX-1 gene polymorphism and endothelial dysfunction: molecular and vascular data in never-treated hypertensive patients 383
The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences 380
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 380
Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency 379
Cftr gene targeting in mouse embryonic stem cells mediated by Small Fragment Homologous Replacement (SFHR) 378
Sequence-specific modification of mouse genomic DNA mediated by gene targeting techniques 378
Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L) 378
Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations 377
Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome 374
MicroRNA genetic variations: association with type 2 diabetes 369
A new method for direct analysis of polymerase chain reaction-amplified human papillomavirus using DNA enzyme immunoassay 368
Potential clinical applications of embryonic stem cells 365
Small fragment homologous replacement: evaluation of factors influencing modification efficiency in an eukaryotic assay system 364
Cellular genetic therapy 364
Towards the pharmacogenomics of cystic fibrosis 364
A pilot beta-thalassaemia screening program in the Albanian population for a health planning program 363
The Gene targeting approach of small fragment homologous replacement (SFHR) alters the expression patterns of DNA repair and cell cycle control genes 362
Polymorphic DNA haplotypes and delta F508 deletion in 212 Italian CF families 362
Generation of human induced pluripotent stem cells from extraembryonic tissues of fetuses affected by monogenic diseases 361
Molecular characterization of a frameshift mutation in exon 19 of the CFTR gene 361
Progress in Gene Therapy Research (Horizons in Cancer Research; Vol. 20) 359
The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female 359
Rescue of murine silica-induced lung injury and fibrosis by human embryonic stem cells 357
The molecular genetics of the DiGeorge syndrome 356
Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population 355
Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients 355
Isolation and cloning by a polymerase chain reaction of a genomic DNA fragment of the human slow skeletal troponin (TNNT1) gene 355
Assessing individual risk for AMD with genetic counseling, family history, and genetic testing 352
Polymerase chain reaction in the detection of mRNA transcripts from the slow skeletal troponin T (TNNT1) gene in myotonic dystrophy and normal muscle 350
Forensic applications of molecular genetic analysis: an Italian collaborative study on paternity testing by the determination of variable number of tandem repeat DNA polymorphisms 350
A serine-to-arginine (AGT-to-CGT) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosis 347
Analysis of 14 cystic fibrosis mutations in five south European populations 346
Sequence-specific modification of genomic DNA by small DNA fragments 345
Toward the pharmacogenomics of cystic fibrosis: an update 344
Non-invasive early prenatal molecular diagnosis using retrieved transcervical trophoblast cells 343
Cellular uptake and delivery monitoring of liposome/DNA complexes during in vitro transfection of CFTR gene 343
Evidence for an association between the SRD5A2 (type II steroid 5 alpha-reductase) locus and prostate cancer in Italian patients 343
Human embryonic stem cells recover in vivo acute lung inflammation bleomycin-induced 338
Oligonucleotide-based gene targeting technologies. 335
Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy 334
lung epithelium 334
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 334
Early hippocampal i-LTP and LOX-1 overexpression induced by anoxia: A potential role in neurodegeneration in NPC mouse model 332
Small Fragment Homologous Replacement (SFHR): sequence-specific modification of genomic DNA in eukaryotic cells by small DNA fragments 331
Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene 329
Recessive congenital myotonia resulting from maternal isodisomy of chromosome 7: a case report 324
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 319
Gene therapy 316
Letter to the editor: exclusion of the elastin gene in the pathogenesis of Costello syndrome [4] 314
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C 310
Human embryonic stem cells recover in vivo acute lung inflammation bleomycin-induced 306
Letter to the editor: Exclusion of the elastin gene in the pathogenesis of Costello syndrome 301
Totale 38.079
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Categoria #
all - tutte 88.350
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 88.350
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20209.893 0 0 896 1.049 925 1.223 1.218 1.088 1.028 972 699 795
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
2022/20231.957 197 184 43 228 205 423 183 128 205 6 110 45
2023/20241.110 155 46 73 16 73 260 25 107 18 41 42 254
2024/20251.082 179 899 4 0 0 0 0 0 0 0 0 0
Totale 45.221