UNICA IRIS Institutional Research Information System

GIGLIO, SABRINA RITA
 Distribuzione geografica
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Continente #
EU - Europa 85.351
NA - Nord America 6.240
AS - Asia 2.786
SA - Sud America 1.120
AF - Africa 86
OC - Oceania 12
Continente sconosciuto - Info sul continente non disponibili 1
Totale 95.596
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Nazione #
IT - Italia 83.686
US - Stati Uniti d'America 6.096
SG - Singapore 1.441
BR - Brasile 925
CN - Cina 528
RU - Federazione Russa 486
VN - Vietnam 383
SE - Svezia 344
DE - Germania 253
FI - Finlandia 132
GB - Regno Unito 129
HK - Hong Kong 112
AR - Argentina 97
CA - Canada 85
FR - Francia 58
IN - India 46
MX - Messico 38
NL - Olanda 38
EC - Ecuador 37
UA - Ucraina 37
BD - Bangladesh 36
ZA - Sudafrica 36
ID - Indonesia 30
KR - Corea 28
AT - Austria 27
ES - Italia 26
PL - Polonia 26
MA - Marocco 23
PK - Pakistan 23
JP - Giappone 22
TR - Turchia 22
IE - Irlanda 21
IQ - Iraq 18
IR - Iran 18
CO - Colombia 17
UZ - Uzbekistan 14
BY - Bielorussia 13
BE - Belgio 12
VE - Venezuela 12
CH - Svizzera 10
SA - Arabia Saudita 10
AU - Australia 8
IL - Israele 8
PE - Perù 8
PY - Paraguay 8
CL - Cile 7
KE - Kenya 7
LT - Lituania 7
NP - Nepal 7
TW - Taiwan 7
UY - Uruguay 7
CZ - Repubblica Ceca 6
EG - Egitto 6
DK - Danimarca 5
HN - Honduras 5
NO - Norvegia 5
RO - Romania 5
AE - Emirati Arabi Uniti 4
DZ - Algeria 4
MY - Malesia 4
NZ - Nuova Zelanda 4
AZ - Azerbaigian 3
GR - Grecia 3
HU - Ungheria 3
JO - Giordania 3
OM - Oman 3
PS - Palestinian Territory 3
TT - Trinidad e Tobago 3
AL - Albania 2
BA - Bosnia-Erzegovina 2
BB - Barbados 2
BW - Botswana 2
DO - Repubblica Dominicana 2
GE - Georgia 2
JM - Giamaica 2
LA - Repubblica Popolare Democratica del Laos 2
LB - Libano 2
NI - Nicaragua 2
PH - Filippine 2
PT - Portogallo 2
QA - Qatar 2
RS - Serbia 2
SI - Slovenia 2
SN - Senegal 2
TH - Thailandia 2
TN - Tunisia 2
AG - Antigua e Barbuda 1
AO - Angola 1
BG - Bulgaria 1
BO - Bolivia 1
CI - Costa d'Avorio 1
CU - Cuba 1
GI - Gibilterra 1
GT - Guatemala 1
HR - Croazia 1
IS - Islanda 1
KN - Saint Kitts e Nevis 1
LU - Lussemburgo 1
LV - Lettonia 1
MD - Moldavia 1
Totale 95.588
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Città #
Cagliari 76.166
Uta 6.859
Dallas 726
Fairfield 651
Singapore 568
Ashburn 477
Boardman 417
Wilmington 299
Woodbridge 277
Seattle 272
Nyköping 267
Houston 253
Cambridge 220
Chandler 168
Jacksonville 165
Beijing 145
Boston 145
Los Angeles 144
Ho Chi Minh City 128
Helsinki 116
Santa Clara 113
Hong Kong 107
Munich 100
Buffalo 93
Ann Arbor 84
São Paulo 84
Chicago 82
San Diego 77
Redondo Beach 74
Dong Ket 70
Hanoi 69
Rome 61
New York 48
Hefei 44
Nuremberg 42
Shanghai 42
Toronto 41
London 39
Redwood City 38
The Dalles 36
Milan 33
Salt Lake City 30
Frankfurt am Main 25
Seoul 25
Norwalk 24
Elk Grove Village 23
Rio de Janeiro 20
Guangzhou 19
San Francisco 19
Warsaw 19
Mexico City 18
Bari 17
Montreal 17
Atlanta 16
Brooklyn 16
Johannesburg 16
Stockholm 16
Tokyo 16
Belo Horizonte 15
Curitiba 15
Guarulhos 15
Mountain View 15
Bologna 14
Casablanca 14
Florence 14
Guayaquil 14
Brasília 13
Minsk 13
Nanjing 13
Tampa 13
Chennai 12
Redmond 12
Tashkent 12
Columbus 11
Padova 11
Amsterdam 10
Buenos Aires 10
Charlotte 10
Naples 10
Wuhan 10
Cuiabá 9
Da Nang 9
Düsseldorf 9
Phoenix 9
Porto Alegre 9
Salvador 9
Sardara 9
Sorocaba 9
Thái Bình 9
Vienna 9
Biên Hòa 8
Ferrara 8
Fortaleza 8
Haiphong 8
Jakarta 8
Lima 8
Livorno 8
Ninh Bình 8
Paris 8
Recife 8
Totale 90.622
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Nome #
Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian pediatric diabetes centers during 2007 to 2012 2.221
Reverse phenotyping after whole-Exome sequencing in steroid-resistant nephrotic syndrome 2.157
Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos 1.630
A microRNA profile of pediatric glioblastoma: The role of NUCKS1 upregulation 1.522
Natural killer-cell immunoglobulin-like receptors trigger differences in immune response to SARS-CoV-2 infection 1.387
A Protective HLA Extended Haplotype Outweighs the Major COVID-19 Risk Factor Inherited From Neanderthals in the Sardinian Population 1.161
PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With Alpelisib 1.135
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report 1.103
Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome 1.073
Can HbA1c combined with fasting plasma glucose help to assess priority for GCK-MODY vs HNF1A-MODY genetic testing? 1.066
RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism 1.024
A review of the main genetic factors influencing the course of COVID-19 in Sardinia: the role of human leukocyte antigen-G 1.017
Disseminated Mycobacterium xenopi in an Adult with IL-12Rβ1 Deficiency 1.010
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 1.001
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity 986
Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder 974
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 951
Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation 916
Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritis 893
Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition 886
Diagnostic implications of genetic copy number variation in epilepsy plus 865
Acute kidney injury promotes development of papillary renal cell adenoma and carcinoma from renal progenitor cells 859
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study 846
Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice 841
Mosaic variegated aneuploidy: two new cases including a prenatal one 840
Clinical correlates in children with autism spectrum disorder and CNVs: systematic investigation in a clinical setting 831
A novel splicing variant of col2a1 in a fetus with achondrogenesis type ii: Interpretation of pathogenicity of in-frame deletions 831
Decision trees to evaluate the risk of developing multiple sclerosis 827
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin‑remodeling genes 805
Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report 800
Differential diagnosis between Marfan syndrome and Loeys–Dietz syndrome type 4: A novel chromosomal deletion covering tgfb2 796
Decision trees for early prediction of inadequate immune response to coronavirus infections: a pilot study on COVID-19 775
The double-sided of human leukocyte antigen-G molecules in type 1 autoimmune hepatitis 762
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder 747
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies 741
Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype 736
De novo unbalanced translocations have a complex history/aetiology 734
Genetic counseling during COVID-19 pandemic: Tuscany experience 729
Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay 725
Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome 720
Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation 719
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 710
Cross-sectional study shows that impaired bone mineral status and metabolism are found in non mosaic triple X syndrome 705
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type 705
Inverted duplications: how many of them are mosaic? 686
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 677
A novel stop codon variant affecting ΔNp63 isoforms associated with non-syndromic limb-mammary phenotype and uterine cervix dysplasia 673
Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission 673
Myoclonic astatic epilepsy in a patient with a de novo 4q21.22q21.23 microduplication 672
Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence? 666
New Thoughts on Pediatric Genetic Obesity: Pathogenesis, Clinical Characteristics and Treatment Approach 661
A de novo 2q interstitial deletion in a patient with a Turner phenotype 650
Michelangelo’s David: triumph of perfection or perfect combination of variation and disproportions? A human perspective 649
Distal renal tubular acidosis: a systematic approach from diagnosis to treatment 647
Noninvasive Prenatal Diagnosis in a Family at Risk for Fraser Syndrome 639
Genomic architecture and chromosome rearrangements 635
Neurological phenomenology of the IRF2BPL mutation syndrome: Analysis of a new case and systematic review of the literature 633
Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression 632
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes 629
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 619
Case report of an atypical early onset X-linked retinoschisis in monozygotic twins 581
Duplication of FOXP2 binding sites within CNTNAP2 gene in a girl with neurodevelopmental delay 575
Transient hyperoxaluria in a patient with inherited distal renal tubular acidosis 568
Brain tumors in Li-Fraumeni syndrome: a commentary and a case of a gliosarcoma patient 558
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases 547
STOP Pain Project—Opioid Response in Pediatric Cancer Patients and Gene Polymorphisms of Cytokine Pathways 544
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 542
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis 541
Exclusive Neurogenic Bladder and Fecal Incontinency in an Achondroplasic Child Successfully Treated with Lumbar Foraminal Decompression 540
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH 539
Tre casi di disgenesia ovarica associata a delezione Xp11.4 - pter e duplicazione Xq2 - qter de novo, di origine paterna. 525
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25 525
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching 523
SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome 520
Pregnancy outcome of confined placental mosaicism: meta-analysis of cohort studies 520
Targeted resequencing for analysis of gene mutations in pediatric Glioblastoma Multiforme 513
Un bambino con severo ritardo di crescita e cisti renali = A child with severe growth delay and renal cysts 508
Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia 504
SLMSuite: a suite of algorithms for segmenting genomic profiles 499
Severe Obesity Associated with Severe Hyperinsulinism and T2D in a Family with Mutation in SH2B1 Gene 487
MOLECULAR CHARACTERIZATION OF PEDIATRIC GLIONEURONAL TUMOR WITH NEUROPIL-LIKE ISLANDS: A GENOME-WIDE COPY NUMBER ANALYSIS 482
Leigh-like neuroimaging features associated with new biallelic mutations in OPA1 475
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 466
MICRORNAS PROFILE IN PAEDIATRIC GBMS 461
Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotype 458
De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s 449
Identificazione e caratterizzazione sistematica di cDNA umani e murini omologhi a geni mutanti in Drosophila. 443
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 430
Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature 424
Determinants of vitamin D levels in children and adolescents with Down syndrome 420
Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene 415
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene 413
Identification and characterization of a new human gene encoding a small protein with high homology to the proline-rich region of the SH3BGR gene 407
CARATTERIZZAZIONE CLINICA, MOLECOLARE E FUNZIONALE DI SOGGETTI CON ACIDOSI TUBULARE RENALE DISTALE 383
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity 381
Bone mineral status and metabolism in patients with Williams-Beuren syndrome 378
Evidence for a Pathogenic Role of CSMD1 in Childhood Apraxia of Speech 376
Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome? 370
Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes 369
Urine-derived Human Renal Progenitor Cultures For Modeling Of Genetic Kidney Disorders 366
Totale 72.228
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Categoria #
all - tutte 159.080
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 159.080
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20212.107 0 0 0 0 0 328 598 274 86 229 198 394
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
2025/20263.820 453 323 1.301 1.108 577 58 0 0 0 0 0 0
Totale 96.038