UNICA IRIS Institutional Research Information System

GIGLIO, SABRINA RITA
 Distribuzione geografica
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Continente #
EU - Europa 89.101
NA - Nord America 7.400
AS - Asia 4.229
SA - Sud America 1.279
AF - Africa 137
OC - Oceania 15
Continente sconosciuto - Info sul continente non disponibili 1
Totale 102.162
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Nazione #
IT - Italia 87.014
US - Stati Uniti d'America 7.222
SG - Singapore 1.916
BR - Brasile 1.004
CN - Cina 915
VN - Vietnam 567
RU - Federazione Russa 495
SE - Svezia 351
DE - Germania 275
FR - Francia 247
HK - Hong Kong 232
FI - Finlandia 210
GB - Regno Unito 165
AR - Argentina 120
IN - India 103
CA - Canada 94
BD - Bangladesh 79
NL - Olanda 60
MX - Messico 54
ZA - Sudafrica 53
IQ - Iraq 50
EC - Ecuador 48
ID - Indonesia 45
UA - Ucraina 44
PK - Pakistan 41
AT - Austria 39
CO - Colombia 34
ES - Italia 34
IE - Irlanda 34
PL - Polonia 33
TR - Turchia 31
KR - Corea 28
MA - Marocco 27
JP - Giappone 26
UZ - Uzbekistan 25
SA - Arabia Saudita 22
VE - Venezuela 20
IR - Iran 18
CL - Cile 17
MY - Malesia 16
PH - Filippine 16
BE - Belgio 14
BY - Bielorussia 13
KE - Kenya 13
IL - Israele 12
PY - Paraguay 12
AU - Australia 10
CH - Svizzera 10
EG - Egitto 10
JO - Giordania 10
PE - Perù 9
TW - Taiwan 9
UY - Uruguay 9
AZ - Azerbaigian 8
NP - Nepal 8
CZ - Repubblica Ceca 7
LT - Lituania 7
TN - Tunisia 7
AE - Emirati Arabi Uniti 6
DK - Danimarca 6
DZ - Algeria 6
HN - Honduras 6
LB - Libano 6
OM - Oman 6
HU - Ungheria 5
NO - Norvegia 5
NZ - Nuova Zelanda 5
RO - Romania 5
TT - Trinidad e Tobago 5
ET - Etiopia 4
GR - Grecia 4
JM - Giamaica 4
RS - Serbia 4
TH - Thailandia 4
AM - Armenia 3
BA - Bosnia-Erzegovina 3
BO - Bolivia 3
CI - Costa d'Avorio 3
CY - Cipro 3
KG - Kirghizistan 3
NI - Nicaragua 3
PS - Palestinian Territory 3
PT - Portogallo 3
QA - Qatar 3
SR - Suriname 3
AL - Albania 2
AO - Angola 2
BB - Barbados 2
BW - Botswana 2
CR - Costa Rica 2
DO - Repubblica Dominicana 2
GE - Georgia 2
KW - Kuwait 2
KZ - Kazakistan 2
LA - Repubblica Popolare Democratica del Laos 2
PA - Panama 2
SI - Slovenia 2
SN - Senegal 2
SY - Repubblica araba siriana 2
ZW - Zimbabwe 2
Totale 102.136
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Città #
Cagliari 79.430
Uta 6.859
Singapore 810
Dallas 733
Fairfield 651
Ashburn 615
San Jose 479
Boardman 438
Wilmington 299
Woodbridge 277
Seattle 272
Nyköping 267
Houston 254
Cambridge 220
Hong Kong 219
Ho Chi Minh City 199
Helsinki 188
The Dalles 182
Los Angeles 176
Chandler 168
Jacksonville 165
Beijing 162
Lauterbourg 159
Boston 145
Council Bluffs 130
Hanoi 123
Santa Clara 119
Munich 100
Buffalo 95
São Paulo 90
Chicago 87
Ann Arbor 84
San Diego 80
Redondo Beach 74
Dong Ket 70
New York 68
Rome 68
Shanghai 52
Hefei 45
Nuremberg 45
Toronto 45
London 43
Milan 43
Frankfurt am Main 42
Redwood City 38
Orem 36
Guangzhou 32
Salt Lake City 30
Amsterdam 27
Chennai 27
Mexico City 26
Seoul 25
Elk Grove Village 24
Norwalk 24
Warsaw 23
Rio de Janeiro 22
Tashkent 22
Johannesburg 21
San Francisco 21
Atlanta 20
Vienna 20
Montreal 19
Curitiba 18
Dublin 18
Tianjin 18
Tokyo 18
Bari 17
Dhaka 17
Stockholm 17
Belo Horizonte 16
Brooklyn 16
Shenzhen 16
Brasília 15
Casablanca 15
Guarulhos 15
Guayaquil 15
Mountain View 15
Nanjing 15
Wuhan 15
Baghdad 14
Bologna 14
Da Nang 14
Florence 14
Tampa 14
Haiphong 13
Jakarta 13
Lappeenranta 13
Minsk 13
Nairobi 13
Paris 13
Columbus 12
Hangzhou 12
Manchester 12
Redmond 12
Buenos Aires 11
Charlotte 11
Mumbai 11
Padova 11
Porto Alegre 11
Barnet 10
Totale 95.864
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Nome #
Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian pediatric diabetes centers during 2007 to 2012 2.253
Reverse phenotyping after whole-Exome sequencing in steroid-resistant nephrotic syndrome 2.222
Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos 1.679
A microRNA profile of pediatric glioblastoma: The role of NUCKS1 upregulation 1.544
Natural killer-cell immunoglobulin-like receptors trigger differences in immune response to SARS-CoV-2 infection 1.442
A Protective HLA Extended Haplotype Outweighs the Major COVID-19 Risk Factor Inherited From Neanderthals in the Sardinian Population 1.226
PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With Alpelisib 1.189
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report 1.135
Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome 1.114
Can HbA1c combined with fasting plasma glucose help to assess priority for GCK-MODY vs HNF1A-MODY genetic testing? 1.099
A review of the main genetic factors influencing the course of COVID-19 in Sardinia: the role of human leukocyte antigen-G 1.088
Non-Invasive Detection of a De Novo Frameshift Variant of STAG2 in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females 1.061
RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism 1.056
Disseminated Mycobacterium xenopi in an Adult with IL-12Rβ1 Deficiency 1.041
Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder 1.027
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity 1.012
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 979
Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation 958
Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritis 925
Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition 912
Diagnostic implications of genetic copy number variation in epilepsy plus 911
Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice 907
Acute kidney injury promotes development of papillary renal cell adenoma and carcinoma from renal progenitor cells 892
Decision trees to evaluate the risk of developing multiple sclerosis 877
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study 876
Clinical correlates in children with autism spectrum disorder and CNVs: systematic investigation in a clinical setting 868
A novel splicing variant of col2a1 in a fetus with achondrogenesis type ii: Interpretation of pathogenicity of in-frame deletions 868
Mosaic variegated aneuploidy: two new cases including a prenatal one 861
The double-sided of human leukocyte antigen-G molecules in type 1 autoimmune hepatitis 850
Differential diagnosis between Marfan syndrome and Loeys–Dietz syndrome type 4: A novel chromosomal deletion covering tgfb2 845
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin‑remodeling genes 842
Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report 836
Decision trees for early prediction of inadequate immune response to coronavirus infections: a pilot study on COVID-19 822
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder 780
Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype 778
Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay 777
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies 771
De novo unbalanced translocations have a complex history/aetiology 767
Genetic counseling during COVID-19 pandemic: Tuscany experience 760
Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation 746
Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome 744
Opioid response in paediatric cancer patients and the Val158Met polymorphism of the human catechol-O-methyltransferase (COMT) gene: an Italian study on 87 cancer children and a systematic review 743
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type 743
Cross-sectional study shows that impaired bone mineral status and metabolism are found in non mosaic triple X syndrome 737
Inverted duplications: how many of them are mosaic? 708
A systematic review of the risk factors for clinical response to opioids for all-age patients with cancer-related pain and presentation of the paediatric STOP pain study 704
A novel stop codon variant affecting ΔNp63 isoforms associated with non-syndromic limb-mammary phenotype and uterine cervix dysplasia 702
Myoclonic astatic epilepsy in a patient with a de novo 4q21.22q21.23 microduplication 701
Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission 698
Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence? 695
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes 688
Michelangelo’s David: triumph of perfection or perfect combination of variation and disproportions? A human perspective 688
New Thoughts on Pediatric Genetic Obesity: Pathogenesis, Clinical Characteristics and Treatment Approach 688
Neurological phenomenology of the IRF2BPL mutation syndrome: Analysis of a new case and systematic review of the literature 688
Distal renal tubular acidosis: a systematic approach from diagnosis to treatment 682
Noninvasive Prenatal Diagnosis in a Family at Risk for Fraser Syndrome 680
A de novo 2q interstitial deletion in a patient with a Turner phenotype 680
Genomic architecture and chromosome rearrangements 655
Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression 652
Estudio clínico y molecular en una familia con displasia ectodérmica hipohidrótica autosómica dominante = Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia 651
Case report of an atypical early onset X-linked retinoschisis in monozygotic twins 609
STOP Pain Project—Opioid Response in Pediatric Cancer Patients and Gene Polymorphisms of Cytokine Pathways 599
Duplication of FOXP2 binding sites within CNTNAP2 gene in a girl with neurodevelopmental delay 596
Brain tumors in Li-Fraumeni syndrome: a commentary and a case of a gliosarcoma patient 593
Transient hyperoxaluria in a patient with inherited distal renal tubular acidosis 587
SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome 577
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases 576
Policaptil Gel Retard significantly reduces body mass index and hyperinsulinism and may decrease the risk of type 2 diabetes mellitus (T2DM) in obese children and adolescents with family history of obesity and T2DM 574
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH 571
Tre casi di disgenesia ovarica associata a delezione Xp11.4 - pter e duplicazione Xq2 - qter de novo, di origine paterna. 567
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis 567
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching 566
Exclusive Neurogenic Bladder and Fecal Incontinency in an Achondroplasic Child Successfully Treated with Lumbar Foraminal Decompression 564
Pregnancy outcome of confined placental mosaicism: meta-analysis of cohort studies 555
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25 555
Targeted resequencing for analysis of gene mutations in pediatric Glioblastoma Multiforme 546
Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia 543
Un bambino con severo ritardo di crescita e cisti renali = A child with severe growth delay and renal cysts 535
SLMSuite: a suite of algorithms for segmenting genomic profiles 533
Severe Obesity Associated with Severe Hyperinsulinism and T2D in a Family with Mutation in SH2B1 Gene 528
Leigh-like neuroimaging features associated with new biallelic mutations in OPA1 514
MOLECULAR CHARACTERIZATION OF PEDIATRIC GLIONEURONAL TUMOR WITH NEUROPIL-LIKE ISLANDS: A GENOME-WIDE COPY NUMBER ANALYSIS 505
Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotype 497
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 496
MICRORNAS PROFILE IN PAEDIATRIC GBMS 481
De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s 480
Identificazione e caratterizzazione sistematica di cDNA umani e murini omologhi a geni mutanti in Drosophila. 477
Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature 470
A SOX3 (Xq26.3-27.3) duplication in a boy with growth hormone deficiency, ocular dyspraxia, and intellectual disability: A long-term follow-up and literature review 464
Determinants of vitamin D levels in children and adolescents with Down syndrome 456
Evidence for a Pathogenic Role of CSMD1 in Childhood Apraxia of Speech 441
Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene 440
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene 439
Identification and characterization of a new human gene encoding a small protein with high homology to the proline-rich region of the SH3BGR gene 438
Bone mineral status and metabolism in patients with Williams-Beuren syndrome 415
Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome? 413
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity 410
CARATTERIZZAZIONE CLINICA, MOLECOLARE E FUNZIONALE DI SOGGETTI CON ACIDOSI TUBULARE RENALE DISTALE 396
Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes 394
Urine-derived Human Renal Progenitor Cultures For Modeling Of Genetic Kidney Disorders 391
Totale 75.881
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Categoria #
all - tutte 168.509
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 168.509
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021821 0 0 0 0 0 0 0 0 0 229 198 394
2021/20226.335 428 527 246 232 381 669 286 301 440 517 1.233 1.075
2022/202311.323 1.200 1.303 854 568 892 1.157 715 1.036 1.150 724 1.039 685
2023/202418.911 822 679 844 1.180 1.931 2.844 3.056 1.156 811 1.334 1.436 2.818
2024/202551.658 14.253 17.470 6.661 3.869 1.797 2.644 2.794 181 586 461 509 433
2025/202610.386 453 323 1.301 1.108 577 715 3.508 966 687 748 0 0
Totale 102.604