IRIS
SANGIUOLO, FEDERICA CARLA
 Distribuzione geografica
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Continente #
NA - Nord America 45.503
EU - Europa 5.048
AS - Asia 4.704
SA - Sud America 767
Continente sconosciuto - Info sul continente non disponibili 705
AF - Africa 66
OC - Oceania 9
Totale 56.802
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Nazione #
US - Stati Uniti d'America 45.247
SG - Singapore 2.132
IT - Italia 1.183
CN - Cina 899
DE - Germania 700
BR - Brasile 617
RU - Federazione Russa 601
UA - Ucraina 490
IE - Irlanda 433
HK - Hong Kong 405
VN - Vietnam 390
FR - Francia 381
GB - Regno Unito 259
PL - Polonia 245
SE - Svezia 236
BD - Bangladesh 217
FI - Finlandia 162
JP - Giappone 145
KR - Corea 132
CA - Canada 121
NL - Olanda 95
IN - India 84
AR - Argentina 51
CZ - Repubblica Ceca 48
BE - Belgio 46
MX - Messico 46
AT - Austria 44
ES - Italia 39
ID - Indonesia 39
KG - Kirghizistan 37
IQ - Iraq 32
TR - Turchia 32
PK - Pakistan 31
EC - Ecuador 26
CO - Colombia 24
ZA - Sudafrica 23
MY - Malesia 18
JM - Giamaica 17
CL - Cile 16
SA - Arabia Saudita 16
CR - Costa Rica 15
LT - Lituania 15
UZ - Uzbekistan 12
VE - Venezuela 12
PH - Filippine 11
RO - Romania 11
TH - Thailandia 11
PY - Paraguay 10
GT - Guatemala 9
AE - Emirati Arabi Uniti 8
JO - Giordania 8
KE - Kenya 8
MA - Marocco 8
NI - Nicaragua 8
NP - Nepal 8
TT - Trinidad e Tobago 8
IR - Iran 7
AU - Australia 6
CH - Svizzera 6
DK - Danimarca 6
DZ - Algeria 6
EE - Estonia 6
EU - Europa 6
HN - Honduras 6
IL - Israele 6
A2 - ???statistics.table.value.countryCode.A2??? 5
AL - Albania 5
EG - Egitto 5
MK - Macedonia 5
NO - Norvegia 5
PT - Portogallo 5
SV - El Salvador 5
TN - Tunisia 5
GR - Grecia 4
KZ - Kazakistan 4
NG - Nigeria 4
PR - Porto Rico 4
RS - Serbia 4
BB - Barbados 3
BH - Bahrain 3
BO - Bolivia 3
DO - Repubblica Dominicana 3
PE - Perù 3
SY - Repubblica araba siriana 3
UY - Uruguay 3
XK - ???statistics.table.value.countryCode.XK??? 3
AI - Anguilla 2
AM - Armenia 2
AO - Angola 2
BG - Bulgaria 2
BY - Bielorussia 2
DM - Dominica 2
ET - Etiopia 2
GE - Georgia 2
GP - Guadalupe 2
LV - Lettonia 2
MD - Moldavia 2
NZ - Nuova Zelanda 2
OM - Oman 2
PA - Panama 2
Totale 56.088
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Città #
Woodbridge 11.827
Wilmington 10.743
Houston 9.727
Fairfield 1.376
Singapore 1.269
Ashburn 1.267
Ann Arbor 904
Chandler 779
San Jose 770
Seattle 623
Cambridge 508
Beijing 408
Rome 399
Hong Kong 395
Dublin 380
Jacksonville 354
New York 332
Council Bluffs 299
Medford 297
Santa Clara 249
Dearborn 247
Los Angeles 201
Kraków 200
The Dalles 197
Dallas 181
Lawrence 136
Ho Chi Minh City 126
Tokyo 126
Lauterbourg 111
Menlo Park 103
Milan 93
Moscow 90
Hanoi 88
Buffalo 85
São Paulo 79
San Diego 72
Munich 70
Chicago 63
Boardman 53
Phoenix 50
Denver 46
Helsinki 44
North Bergen 44
Brno 43
London 42
Atlanta 40
Orem 40
Nuremberg 38
Warsaw 36
Montreal 35
Redondo Beach 35
Brussels 34
Palo Alto 34
Monte Vista 30
Redwood City 30
Brooklyn 29
Stockholm 28
Frankfurt am Main 27
Da Nang 25
Salt Lake City 24
San Francisco 24
Chennai 23
Amsterdam 22
Hefei 22
Mülheim 22
Rio de Janeiro 22
Toronto 22
Vienna 22
Zhengzhou 22
Jakarta 21
Mountain View 21
Norwalk 20
Verona 20
Johannesburg 19
Brasília 17
Columbus 17
Florence 17
Guangzhou 17
Manchester 17
Belo Horizonte 16
Mumbai 16
Naples 16
Charlotte 15
Haiphong 15
Jinan 15
Philadelphia 15
Seoul 15
Boston 14
Guayaquil 14
Baghdad 13
Curitiba 13
Poplar 13
Elk Grove Village 12
Nanjing 12
Turin 12
Bologna 11
Genzano di Roma 11
Kingston 11
La Veta 11
Tashkent 11
Totale 46.649
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Nome #
A preliminary analysis of volatile metabolites of human induced pluripotent stem cells along the in vitro differentiation 605
Gene expression profile study in CFTR mutated bronchial cell lines 545
Common polymorphisms in MIR146a, MIR128a and MIR27a genes contribute to neuropathy susceptibility in type 2 diabetes 526
Analysis of intracellular distribution and apoptosis involvement of the Ufd1l gene product by over-expression studies 521
Human induced pluripotent stem cells for monogenic disease modelling and therapy 513
Identification of multipotent cytotrophoblast cells from human first trimester chorionic villi 509
The lectin-like oxidized LDL receptor-1: A new potential molecular target in colorectal cancer 509
TCF7L2 gene polymorphisms and type 2 diabetes: Association with diabetic retinopathy and cardiovascular autonomic neuropathy 499
Cloning and molecular characterization of three ubiquitin fusion degradation 1 (Ufd1) ortholog genes from Xenopus laevis, Gallus gallus and Drosophila melanogaster 498
Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene 496
null 492
Application of Next Generation Sequencing for personalized medicine for sudden cardiac death 490
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy 483
Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: A novel recognizable microdeletion syndrome? 482
Expression analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissues. 478
HFE gene variants and iron-induced oxygen radical generation in idiopathic pulmonary fibrosis 478
Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis 476
Therapeutic strategies for the treatment of Spinal Muscular Atrophy (SMA) disease 476
SMA human iPSC-derived motor neurons show perturbed differentiation and reduced miR-335-5P expression 476
Transabdominal coelocentesis as early source of fetal DNA for chromosomal and molecular diagnosis 474
A perturbed MicroRNA expression pattern characterizes embryonic neural stem cells derived from a severe mouse model of spinal muscular atrophy (SMA) 474
Comparative analysis between saliva and buccal swabs as source of DNA: Lesson from HLA-B∗57:01 testing 473
A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13 473
Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism 472
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 471
Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita 469
Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26 467
Genotype-phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia 466
In vitro restoration of functional SMN protein in human trophoblast cells affected by spinal muscular atrophy by small fragment homologous replacement 463
Expression analysis and protein localization of the human HPC-1/syntaxin 1A, a gene deleted in Williams syndrome 462
In vitro correction of cystic fibrosis epithelial cell lines by small fragment homologous replacement (SFHR) technique 461
Pharmacogenetics of human androgens and prostatic diseases 457
Identification and characterization of 5' CCG interruptions in complex DMPK expanded alleles 455
The up-to-date molecular genetics of cystic fibrosis 454
Prenatal diagnosis of spinal muscular atrophy with respiratory distress (SMARD1) in a twin pregnancy [5] 454
Reliable and versatile immortal muscle cell models from healthy and myotonic dystrophy type 1 primary human myoblasts 453
Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3 453
FLG (filaggrin) null mutations and sunlight exposure: Evidence of a correlation 453
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1 452
Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency 451
Pharmacogenomics of multifactorial diseases: A focus on psoriatic arthritis 450
3'-UTR OLR1/LOX-1 gene polymorphism and endothelial dysfunction: molecular and vascular data in never-treated hypertensive patients 449
Isolation of CF cell lines corrected at ΔF508-CFTR locus by SFHR-mediated targeting 446
A pilot beta-thalassaemia screening program in the Albanian population for a health planning program 445
Gene transfection efficiency of tracheal epithelial cells by DC-chol-DOPE/DNA complexes 445
Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L) 444
Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome. 443
Assignment of the hexokinase type 3 gene (HK3) to human chromosome band 5q35.3 by somatic cell hybrids and in situ hybridization 443
Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome 442
Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: A multicentric Italian study. 437
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 436
Progress in Gene Therapy Research (Horizons in Cancer Research; Vol. 20) 434
Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations 434
In vivo and in vitro studies support that a new splicing isoform of OLR1 gene is protective against acute myocardial infarction 432
Assessing individual risk for AMD with genetic counseling, family history, and genetic testing 432
MicroRNA genetic variations: association with type 2 diabetes 430
Cftr gene targeting in mouse embryonic stem cells mediated by Small Fragment Homologous Replacement (SFHR) 429
Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency 429
Diagnostic CFTR mutation analysis 429
The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences 423
A new method for direct analysis of polymerase chain reaction-amplified human papillomavirus using DNA enzyme immunoassay 421
Sequence-specific modification of mouse genomic DNA mediated by gene targeting techniques 420
The Gene targeting approach of small fragment homologous replacement (SFHR) alters the expression patterns of DNA repair and cell cycle control genes 420
Cellular genetic therapy 418
Towards the pharmacogenomics of cystic fibrosis 418
Rescue of murine silica-induced lung injury and fibrosis by human embryonic stem cells 417
Early hippocampal i-LTP and LOX-1 overexpression induced by anoxia: A potential role in neurodegeneration in NPC mouse model 416
The molecular genetics of the DiGeorge syndrome 415
Potential clinical applications of embryonic stem cells 414
The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female 413
Small fragment homologous replacement: evaluation of factors influencing modification efficiency in an eukaryotic assay system 411
Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population 411
Analysis of 14 cystic fibrosis mutations in five south European populations 411
Non-invasive early prenatal molecular diagnosis using retrieved transcervical trophoblast cells 408
Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene 407
Generation of human induced pluripotent stem cells from extraembryonic tissues of fetuses affected by monogenic diseases 407
Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients 406
Forensic applications of molecular genetic analysis: an Italian collaborative study on paternity testing by the determination of variable number of tandem repeat DNA polymorphisms 406
Evidence for an association between the SRD5A2 (type II steroid 5 alpha-reductase) locus and prostate cancer in Italian patients 405
Toward the pharmacogenomics of cystic fibrosis: an update 404
Human embryonic stem cells recover in vivo acute lung inflammation bleomycin-induced 402
Molecular characterization of a frameshift mutation in exon 19 of the CFTR gene 398
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 396
Sequence-specific modification of genomic DNA by small DNA fragments 395
Polymorphic DNA haplotypes and delta F508 deletion in 212 Italian CF families 393
A serine-to-arginine (AGT-to-CGT) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosis 393
Isolation and cloning by a polymerase chain reaction of a genomic DNA fragment of the human slow skeletal troponin (TNNT1) gene 393
Polymerase chain reaction in the detection of mRNA transcripts from the slow skeletal troponin T (TNNT1) gene in myotonic dystrophy and normal muscle 390
Oligonucleotide-based gene targeting technologies. 388
Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy 386
Cellular uptake and delivery monitoring of liposome/DNA complexes during in vitro transfection of CFTR gene 383
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C 381
lung epithelium 378
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 369
Coexistence of Two Novel Mutations in CDKN2A and PMS1 Genes in a Single Patient Identifies a New and Severe Cancer Predisposition Syndrome 368
Gene therapy 365
Small Fragment Homologous Replacement (SFHR): sequence-specific modification of genomic DNA in eukaryotic cells by small DNA fragments 363
Letter to the editor: exclusion of the elastin gene in the pathogenesis of Costello syndrome [4] 360
Recessive congenital myotonia resulting from maternal isodisomy of chromosome 7: a case report 358
Simultaneous detection of delta F508, G542X, N1303K, G551D, and 1717-1G-->A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay 357
Totale 43.875
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Categoria #
all - tutte 140.447
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 140.447
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.340 0 0 0 100 67 197 93 105 127 124 139 388
2022/20231.919 195 182 42 226 200 417 180 122 201 6 103 45
2023/20241.058 151 45 68 16 71 254 19 101 14 40 36 243
2024/20253.703 178 882 408 256 91 168 319 200 444 303 269 185
2025/20266.477 518 293 825 542 651 201 749 766 637 593 427 275
2026/20272.665 351 457 1.195 662 0 0 0 0 0 0 0 0
Totale 56.802