UNICA IRIS Institutional Research Information System

GIGLIO, SABRINA RITA
 Distribuzione geografica
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Continente #
EU - Europa 85.616
NA - Nord America 6.290
AS - Asia 3.038
SA - Sud America 1.131
AF - Africa 89
OC - Oceania 12
Continente sconosciuto - Info sul continente non disponibili 1
Totale 96.177
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Nazione #
IT - Italia 83.911
US - Stati Uniti d'America 6.144
SG - Singapore 1.664
BR - Brasile 933
CN - Cina 534
RU - Federazione Russa 487
VN - Vietnam 396
SE - Svezia 344
DE - Germania 253
GB - Regno Unito 133
FI - Finlandia 132
HK - Hong Kong 115
AR - Argentina 97
CA - Canada 85
FR - Francia 58
NL - Olanda 50
IN - India 48
MX - Messico 39
ZA - Sudafrica 38
EC - Ecuador 37
UA - Ucraina 37
AT - Austria 36
BD - Bangladesh 36
IE - Irlanda 31
ID - Indonesia 30
ES - Italia 28
KR - Corea 28
PL - Polonia 28
PK - Pakistan 24
MA - Marocco 23
JP - Giappone 22
TR - Turchia 22
IQ - Iraq 20
IR - Iran 18
CO - Colombia 17
UZ - Uzbekistan 14
VE - Venezuela 14
BY - Bielorussia 13
BE - Belgio 12
CH - Svizzera 10
SA - Arabia Saudita 10
AU - Australia 8
IL - Israele 8
PE - Perù 8
PY - Paraguay 8
UY - Uruguay 8
CL - Cile 7
KE - Kenya 7
LT - Lituania 7
NP - Nepal 7
TW - Taiwan 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
QA - Qatar 3
TT - Trinidad e Tobago 3
AL - Albania 2
BA - Bosnia-Erzegovina 2
BB - Barbados 2
BW - Botswana 2
CI - Costa d'Avorio 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
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
CR - Costa Rica 1
CU - Cuba 1
GI - Gibilterra 1
GT - Guatemala 1
HR - Croazia 1
IS - Islanda 1
KN - Saint Kitts e Nevis 1
KZ - Kazakistan 1
LU - Lussemburgo 1
Totale 96.167
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Città #
Cagliari 76.384
Uta 6.859
Dallas 726
Fairfield 651
Singapore 593
Ashburn 485
Boardman 417
Wilmington 299
Woodbridge 277
Seattle 272
Nyköping 267
Houston 253
Cambridge 220
Chandler 168
Jacksonville 165
Beijing 145
Boston 145
Los Angeles 145
Ho Chi Minh City 133
Helsinki 116
Santa Clara 113
Hong Kong 110
Munich 100
Buffalo 93
Ann Arbor 84
São Paulo 84
Chicago 82
San Diego 77
Hanoi 74
Redondo Beach 74
Dong Ket 70
Rome 64
The Dalles 61
New York 52
Hefei 44
Nuremberg 42
Shanghai 42
Toronto 41
London 39
Redwood City 38
Milan 34
Salt Lake City 30
Frankfurt am Main 25
Seoul 25
Norwalk 24
Elk Grove Village 23
Amsterdam 22
Warsaw 21
Rio de Janeiro 20
Guangzhou 19
Mexico City 19
San Francisco 19
Johannesburg 18
Bari 17
Montreal 17
Vienna 17
Atlanta 16
Brooklyn 16
Dublin 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
Da Nang 11
Padova 11
Buenos Aires 10
Charlotte 10
Naples 10
Porto Alegre 10
Wuhan 10
Cuiabá 9
Düsseldorf 9
Ninh Bình 9
Phoenix 9
Salvador 9
Sardara 9
Sorocaba 9
Thái Bình 9
Biên Hòa 8
Denver 8
Ferrara 8
Fortaleza 8
Haiphong 8
Jakarta 8
Lima 8
Livorno 8
Totale 90.957
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Nome #
Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian pediatric diabetes centers during 2007 to 2012 2.222
Reverse phenotyping after whole-Exome sequencing in steroid-resistant nephrotic syndrome 2.159
Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos 1.632
A microRNA profile of pediatric glioblastoma: The role of NUCKS1 upregulation 1.523
Natural killer-cell immunoglobulin-like receptors trigger differences in immune response to SARS-CoV-2 infection 1.400
A Protective HLA Extended Haplotype Outweighs the Major COVID-19 Risk Factor Inherited From Neanderthals in the Sardinian Population 1.182
PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With Alpelisib 1.142
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report 1.104
Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome 1.076
Can HbA1c combined with fasting plasma glucose help to assess priority for GCK-MODY vs HNF1A-MODY genetic testing? 1.067
A review of the main genetic factors influencing the course of COVID-19 in Sardinia: the role of human leukocyte antigen-G 1.031
RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism 1.028
Disseminated Mycobacterium xenopi in an Adult with IL-12Rβ1 Deficiency 1.015
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 1.009
Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder 991
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity 987
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 952
Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation 917
Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritis 895
Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition 887
Diagnostic implications of genetic copy number variation in epilepsy plus 866
Acute kidney injury promotes development of papillary renal cell adenoma and carcinoma from renal progenitor cells 861
Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice 855
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study 854
Mosaic variegated aneuploidy: two new cases including a prenatal one 841
A novel splicing variant of col2a1 in a fetus with achondrogenesis type ii: Interpretation of pathogenicity of in-frame deletions 837
Decision trees to evaluate the risk of developing multiple sclerosis 832
Clinical correlates in children with autism spectrum disorder and CNVs: systematic investigation in a clinical setting 832
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin‑remodeling genes 815
Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report 807
Differential diagnosis between Marfan syndrome and Loeys–Dietz syndrome type 4: A novel chromosomal deletion covering tgfb2 802
The double-sided of human leukocyte antigen-G molecules in type 1 autoimmune hepatitis 784
Decision trees for early prediction of inadequate immune response to coronavirus infections: a pilot study on COVID-19 784
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder 751
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies 745
Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype 741
Genetic counseling during COVID-19 pandemic: Tuscany experience 736
De novo unbalanced translocations have a complex history/aetiology 735
Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay 732
Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome 721
Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation 720
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 711
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type 707
Cross-sectional study shows that impaired bone mineral status and metabolism are found in non mosaic triple X syndrome 706
Inverted duplications: how many of them are mosaic? 687
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 678
A novel stop codon variant affecting ΔNp63 isoforms associated with non-syndromic limb-mammary phenotype and uterine cervix dysplasia 676
Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission 675
Myoclonic astatic epilepsy in a patient with a de novo 4q21.22q21.23 microduplication 674
Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence? 668
New Thoughts on Pediatric Genetic Obesity: Pathogenesis, Clinical Characteristics and Treatment Approach 662
Distal renal tubular acidosis: a systematic approach from diagnosis to treatment 657
A de novo 2q interstitial deletion in a patient with a Turner phenotype 651
Michelangelo’s David: triumph of perfection or perfect combination of variation and disproportions? A human perspective 650
Noninvasive Prenatal Diagnosis in a Family at Risk for Fraser Syndrome 642
Neurological phenomenology of the IRF2BPL mutation syndrome: Analysis of a new case and systematic review of the literature 641
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes 638
Genomic architecture and chromosome rearrangements 636
Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression 633
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 620
Case report of an atypical early onset X-linked retinoschisis in monozygotic twins 582
Duplication of FOXP2 binding sites within CNTNAP2 gene in a girl with neurodevelopmental delay 577
Transient hyperoxaluria in a patient with inherited distal renal tubular acidosis 569
Brain tumors in Li-Fraumeni syndrome: a commentary and a case of a gliosarcoma patient 560
STOP Pain Project—Opioid Response in Pediatric Cancer Patients and Gene Polymorphisms of Cytokine Pathways 556
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases 548
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 544
Exclusive Neurogenic Bladder and Fecal Incontinency in an Achondroplasic Child Successfully Treated with Lumbar Foraminal Decompression 544
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis 542
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH 541
Tre casi di disgenesia ovarica associata a delezione Xp11.4 - pter e duplicazione Xq2 - qter de novo, di origine paterna. 532
Pregnancy outcome of confined placental mosaicism: meta-analysis of cohort studies 531
SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome 526
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25 526
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching 525
Targeted resequencing for analysis of gene mutations in pediatric Glioblastoma Multiforme 514
Un bambino con severo ritardo di crescita e cisti renali = A child with severe growth delay and renal cysts 510
Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia 507
SLMSuite: a suite of algorithms for segmenting genomic profiles 500
Severe Obesity Associated with Severe Hyperinsulinism and T2D in a Family with Mutation in SH2B1 Gene 488
MOLECULAR CHARACTERIZATION OF PEDIATRIC GLIONEURONAL TUMOR WITH NEUROPIL-LIKE ISLANDS: A GENOME-WIDE COPY NUMBER ANALYSIS 483
Leigh-like neuroimaging features associated with new biallelic mutations in OPA1 476
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 467
MICRORNAS PROFILE IN PAEDIATRIC GBMS 462
Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotype 459
De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s 450
Identificazione e caratterizzazione sistematica di cDNA umani e murini omologhi a geni mutanti in Drosophila. 447
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 431
Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature 430
Determinants of vitamin D levels in children and adolescents with Down syndrome 421
Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene 416
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene 414
Identification and characterization of a new human gene encoding a small protein with high homology to the proline-rich region of the SH3BGR gene 409
Evidence for a Pathogenic Role of CSMD1 in Childhood Apraxia of Speech 385
CARATTERIZZAZIONE CLINICA, MOLECOLARE E FUNZIONALE DI SOGGETTI CON ACIDOSI TUBULARE RENALE DISTALE 384
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity 382
Bone mineral status and metabolism in patients with Williams-Beuren syndrome 379
Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome? 371
Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes 370
Urine-derived Human Renal Progenitor Cultures For Modeling Of Genetic Kidney Disorders 367
Totale 72.607
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Categoria #
all - tutte 160.392
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 160.392
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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
2025/20264.401 453 323 1.301 1.108 577 639 0 0 0 0 0 0
Totale 96.619