UNICA IRIS Institutional Research Information System

GIGLIO, SABRINA RITA
 Distribuzione geografica
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Continente #
EU - Europa 85.056
NA - Nord America 4.735
AS - Asia 1.643
SA - Sud America 473
AF - Africa 28
OC - Oceania 10
Totale 91.945
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Nazione #
IT - Italia 83.511
US - Stati Uniti d'America 4.645
SG - Singapore 1.041
RU - Federazione Russa 481
BR - Brasile 420
SE - Svezia 324
CN - Cina 281
DE - Germania 248
FI - Finlandia 128
GB - Regno Unito 106
VN - Vietnam 79
HK - Hong Kong 71
CA - Canada 64
FR - Francia 54
NL - Olanda 31
AR - Argentina 29
UA - Ucraina 29
IN - India 28
AT - Austria 25
IE - Irlanda 20
TR - Turchia 18
ES - Italia 17
PK - Pakistan 16
BD - Bangladesh 15
IR - Iran 15
MX - Messico 15
BE - Belgio 12
BY - Bielorussia 12
JP - Giappone 12
PL - Polonia 12
ZA - Sudafrica 12
KR - Corea 10
CH - Svizzera 9
IQ - Iraq 9
IL - Israele 8
UZ - Uzbekistan 8
AU - Australia 6
TW - Taiwan 6
VE - Venezuela 6
CZ - Repubblica Ceca 5
EC - Ecuador 5
NO - Norvegia 5
SA - Arabia Saudita 5
CO - Colombia 4
DK - Danimarca 4
DZ - Algeria 4
KE - Kenya 4
LT - Lituania 4
MA - Marocco 4
NP - Nepal 4
NZ - Nuova Zelanda 4
PE - Perù 4
RO - Romania 4
UY - Uruguay 4
GR - Grecia 3
MY - Malesia 3
AE - Emirati Arabi Uniti 2
AZ - Azerbaigian 2
BB - Barbados 2
JM - Giamaica 2
JO - Giordania 2
LA - Repubblica Popolare Democratica del Laos 2
OM - Oman 2
PT - Portogallo 2
QA - Qatar 2
RS - Serbia 2
TT - Trinidad e Tobago 2
AG - Antigua e Barbuda 1
AL - Albania 1
AO - Angola 1
BW - Botswana 1
EG - Egitto 1
HN - Honduras 1
HR - Croazia 1
HU - Ungheria 1
IS - Islanda 1
KN - Saint Kitts e Nevis 1
LU - Lussemburgo 1
LV - Lettonia 1
MZ - Mozambico 1
NI - Nicaragua 1
PA - Panama 1
PH - Filippine 1
PS - Palestinian Territory 1
PY - Paraguay 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
Totale 91.945
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Città #
Cagliari 76.051
Uta 6.841
Fairfield 651
Singapore 427
Boardman 412
Ashburn 308
Wilmington 298
Woodbridge 277
Seattle 268
Nyköping 267
Houston 250
Cambridge 220
Chandler 168
Jacksonville 165
Boston 141
Helsinki 116
Santa Clara 108
Munich 100
Ann Arbor 84
Beijing 81
San Diego 77
Dong Ket 70
Hong Kong 66
Chicago 64
Rome 54
Nuremberg 42
Shanghai 40
Toronto 40
Redwood City 38
Los Angeles 37
London 35
Milan 30
São Paulo 29
Norwalk 24
New York 23
Frankfurt am Main 21
The Dalles 21
Salt Lake City 20
Bari 17
Guangzhou 15
Mountain View 15
San Francisco 15
Bologna 14
Florence 14
Hefei 13
Nanjing 13
Minsk 12
Redmond 12
Columbus 11
Padova 11
Naples 10
Tampa 10
Düsseldorf 9
Sardara 9
Wuhan 9
Mexico City 8
Rio de Janeiro 8
Tashkent 8
Vienna 8
Assèmini 7
Bogazici 7
Borås 7
Brooklyn 7
Curitiba 7
Palermo 7
Paris 7
Seoul 7
Turin 7
Brescia 6
Charlotte 6
Dallas 6
Dublin 6
Guarulhos 6
Kilburn 6
Livorno 6
Oristano 6
Ottawa 6
Portsmouth 6
Prescot 6
Ribeirão Preto 6
Shenzhen 6
Sorocaba 6
Stockholm 6
Tokyo 6
Atlanta 5
Belo Horizonte 5
Berlin 5
Buffalo 5
Cascina 5
Elk Grove Village 5
Genoa 5
Jinan 5
Johannesburg 5
Lappeenranta 5
Las Vegas 5
Manaus 5
Merced 5
Mumbai 5
Olbia 5
Oslo 5
Totale 88.444
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Nome #
Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian pediatric diabetes centers during 2007 to 2012 2.210
Reverse phenotyping after whole-Exome sequencing in steroid-resistant nephrotic syndrome 2.147
Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos 1.624
A microRNA profile of pediatric glioblastoma: The role of NUCKS1 upregulation 1.514
Natural killer-cell immunoglobulin-like receptors trigger differences in immune response to SARS-CoV-2 infection 1.344
PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With Alpelisib 1.114
A Protective HLA Extended Haplotype Outweighs the Major COVID-19 Risk Factor Inherited From Neanderthals in the Sardinian Population 1.100
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report 1.077
Can HbA1c combined with fasting plasma glucose help to assess priority for GCK-MODY vs HNF1A-MODY genetic testing? 1.057
Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome 1.047
RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism 1.015
Disseminated Mycobacterium xenopi in an Adult with IL-12Rβ1 Deficiency 1.001
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity 979
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 949
A review of the main genetic factors influencing the course of COVID-19 in Sardinia: the role of human leukocyte antigen-G 947
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 941
Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder 940
Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation 909
Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritis 886
Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition 875
Diagnostic implications of genetic copy number variation in epilepsy plus 849
Acute kidney injury promotes development of papillary renal cell adenoma and carcinoma from renal progenitor cells 847
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study 840
Clinical correlates in children with autism spectrum disorder and CNVs: systematic investigation in a clinical setting 820
Mosaic variegated aneuploidy: two new cases including a prenatal one 813
Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice 807
A novel splicing variant of col2a1 in a fetus with achondrogenesis type ii: Interpretation of pathogenicity of in-frame deletions 805
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin‑remodeling genes 791
Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report 784
Differential diagnosis between Marfan syndrome and Loeys–Dietz syndrome type 4: A novel chromosomal deletion covering tgfb2 777
Decision trees to evaluate the risk of developing multiple sclerosis 775
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder 735
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies 731
De novo unbalanced translocations have a complex history/aetiology 726
Decision trees for early prediction of inadequate immune response to coronavirus infections: a pilot study on COVID-19 725
Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype 720
The double-sided of human leukocyte antigen-G molecules in type 1 autoimmune hepatitis 714
Genetic counseling during COVID-19 pandemic: Tuscany experience 713
Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation 702
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 698
Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay 697
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type 695
Cross-sectional study shows that impaired bone mineral status and metabolism are found in non mosaic triple X syndrome 693
Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome 693
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 669
Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission 666
A novel stop codon variant affecting ΔNp63 isoforms associated with non-syndromic limb-mammary phenotype and uterine cervix dysplasia 665
Myoclonic astatic epilepsy in a patient with a de novo 4q21.22q21.23 microduplication 664
Inverted duplications: how many of them are mosaic? 661
Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence? 658
New Thoughts on Pediatric Genetic Obesity: Pathogenesis, Clinical Characteristics and Treatment Approach 645
A de novo 2q interstitial deletion in a patient with a Turner phenotype 640
Michelangelo’s David: triumph of perfection or perfect combination of variation and disproportions? A human perspective 636
Noninvasive Prenatal Diagnosis in a Family at Risk for Fraser Syndrome 629
Distal renal tubular acidosis: a systematic approach from diagnosis to treatment 628
Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression 623
Genomic architecture and chromosome rearrangements 622
Neurological phenomenology of the IRF2BPL mutation syndrome: Analysis of a new case and systematic review of the literature 611
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 610
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes 608
Case report of an atypical early onset X-linked retinoschisis in monozygotic twins 570
Duplication of FOXP2 binding sites within CNTNAP2 gene in a girl with neurodevelopmental delay 562
Transient hyperoxaluria in a patient with inherited distal renal tubular acidosis 560
Brain tumors in Li-Fraumeni syndrome: a commentary and a case of a gliosarcoma patient 544
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases 535
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH 532
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 531
Exclusive Neurogenic Bladder and Fecal Incontinency in an Achondroplasic Child Successfully Treated with Lumbar Foraminal Decompression 527
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis 526
STOP Pain Project—Opioid Response in Pediatric Cancer Patients and Gene Polymorphisms of Cytokine Pathways 525
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25 519
Tre casi di disgenesia ovarica associata a delezione Xp11.4 - pter e duplicazione Xq2 - qter de novo, di origine paterna. 512
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching 504
Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia 497
SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome 495
Pregnancy outcome of confined placental mosaicism: meta-analysis of cohort studies 494
Un bambino con severo ritardo di crescita e cisti renali = A child with severe growth delay and renal cysts 493
SLMSuite: a suite of algorithms for segmenting genomic profiles 492
Targeted resequencing for analysis of gene mutations in pediatric Glioblastoma Multiforme 485
Severe Obesity Associated with Severe Hyperinsulinism and T2D in a Family with Mutation in SH2B1 Gene 478
Leigh-like neuroimaging features associated with new biallelic mutations in OPA1 461
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 457
MICRORNAS PROFILE IN PAEDIATRIC GBMS 453
MOLECULAR CHARACTERIZATION OF PEDIATRIC GLIONEURONAL TUMOR WITH NEUROPIL-LIKE ISLANDS: A GENOME-WIDE COPY NUMBER ANALYSIS 452
Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotype 449
Identificazione e caratterizzazione sistematica di cDNA umani e murini omologhi a geni mutanti in Drosophila. 430
De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s 419
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 415
Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature 406
Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene 404
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene 401
Identification and characterization of a new human gene encoding a small protein with high homology to the proline-rich region of the SH3BGR gene 396
Determinants of vitamin D levels in children and adolescents with Down syndrome 392
CARATTERIZZAZIONE CLINICA, MOLECOLARE E FUNZIONALE DI SOGGETTI CON ACIDOSI TUBULARE RENALE DISTALE 378
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity 372
Bone mineral status and metabolism in patients with Williams-Beuren syndrome 370
Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome? 362
Evidence for a Pathogenic Role of CSMD1 in Childhood Apraxia of Speech 354
Reciprocal translocations: a trap for cytogenetists? 347
Diabetes mellitus in a girl with thyroid hormone resistance syndrome: A little recognized interaction between the two diseases 343
Totale 70.503
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Categoria #
all - tutte 149.320
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 149.320
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20213.808 19 9 22 1.237 414 328 598 274 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
2025/2026154 154 0 0 0 0 0 0 0 0 0 0 0
Totale 92.372