UNICA IRIS Institutional Research Information System

GIGLIO, SABRINA RITA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
EU - Europa 89.479
NA - Nord America 7.845
AS - Asia 4.302
SA - Sud America 1.281
AF - Africa 136
OC - Oceania 15
Continente sconosciuto - Info sul continente non disponibili 1
Totale 103.059
Salva come PNG Salva come JPEG
Nazione #
IT - Italia 87.387
US - Stati Uniti d'America 7.656
SG - Singapore 1.922
BR - Brasile 1.004
CN - Cina 923
VN - Vietnam 564
RU - Federazione Russa 495
SE - Svezia 351
DE - Germania 275
FR - Francia 246
HK - Hong Kong 237
FI - Finlandia 206
GB - Regno Unito 165
BD - Bangladesh 129
AR - Argentina 120
IN - India 106
CA - Canada 102
NL - Olanda 65
MX - Messico 56
ZA - Sudafrica 53
IQ - Iraq 51
EC - Ecuador 48
ID - Indonesia 46
UA - Ucraina 44
PK - Pakistan 41
AT - Austria 38
CO - Colombia 36
ES - Italia 34
IE - Irlanda 34
PL - Polonia 33
TR - Turchia 31
KR - Corea 28
JP - Giappone 26
MA - Marocco 26
UZ - Uzbekistan 25
SA - Arabia Saudita 22
VE - Venezuela 20
IR - Iran 18
CL - Cile 17
MY - Malesia 17
PH - Filippine 16
BE - Belgio 14
BY - Bielorussia 13
CH - Svizzera 13
KE - Kenya 13
IL - Israele 12
PY - Paraguay 12
AU - Australia 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
LB - Libano 7
LT - Lituania 7
TN - Tunisia 7
AE - Emirati Arabi Uniti 6
DK - Danimarca 6
DZ - Algeria 6
HN - Honduras 6
HU - Ungheria 6
OM - Oman 6
JM - Giamaica 5
NO - Norvegia 5
NZ - Nuova Zelanda 5
RO - Romania 5
TT - Trinidad e Tobago 5
ET - Etiopia 4
GR - Grecia 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
LV - Lettonia 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
Totale 103.032
Salva come PNG Salva come JPEG
Città #
Cagliari 79.734
Uta 6.859
Singapore 811
Dallas 740
Fairfield 652
Ashburn 631
Boardman 557
San Jose 537
Wilmington 299
Woodbridge 277
Seattle 272
Nyköping 267
Houston 258
Hong Kong 224
Cambridge 221
Ho Chi Minh City 197
Helsinki 186
The Dalles 183
Los Angeles 180
Beijing 169
Chandler 168
Jacksonville 165
Council Bluffs 162
Lauterbourg 158
Boston 146
Santa Clara 126
Hanoi 122
Munich 100
Buffalo 98
São Paulo 90
Chicago 87
New York 86
Ann Arbor 84
San Diego 80
Redondo Beach 74
Rome 74
Dong Ket 70
Shanghai 52
Toronto 47
Hefei 45
Milan 45
Nuremberg 45
London 43
Frankfurt am Main 42
Redwood City 38
Orem 36
Guangzhou 32
Salt Lake City 31
Mexico City 28
Amsterdam 27
Chennai 27
Seoul 25
Elk Grove Village 24
Norwalk 24
Warsaw 23
Atlanta 22
Rio de Janeiro 22
San Francisco 22
Tashkent 22
Johannesburg 21
Montreal 20
Vienna 19
Bari 18
Curitiba 18
Dublin 18
Tianjin 18
Tokyo 18
Brooklyn 17
Dhaka 17
Stockholm 17
Belo Horizonte 16
Bologna 16
Shenzhen 16
Tampa 16
Brasília 15
Florence 15
Guarulhos 15
Guayaquil 15
Mountain View 15
Nanjing 15
Wuhan 15
Baghdad 14
Casablanca 14
Da Nang 14
Haiphong 13
Hangzhou 13
Jakarta 13
Minsk 13
Nairobi 13
Paris 13
Charlotte 12
Columbus 12
Manchester 12
Redmond 12
Buenos Aires 11
Lappeenranta 11
Mumbai 11
Naples 11
Padova 11
Phoenix 11
Totale 96.470
Salva come PNG Salva come JPEG
Nome #
Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian pediatric diabetes centers during 2007 to 2012 2.254
Reverse phenotyping after whole-Exome sequencing in steroid-resistant nephrotic syndrome 2.230
Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos 1.693
A microRNA profile of pediatric glioblastoma: The role of NUCKS1 upregulation 1.548
Natural killer-cell immunoglobulin-like receptors trigger differences in immune response to SARS-CoV-2 infection 1.452
A Protective HLA Extended Haplotype Outweighs the Major COVID-19 Risk Factor Inherited From Neanderthals in the Sardinian Population 1.236
PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With Alpelisib 1.197
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report 1.140
Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome 1.135
Can HbA1c combined with fasting plasma glucose help to assess priority for GCK-MODY vs HNF1A-MODY genetic testing? 1.101
A review of the main genetic factors influencing the course of COVID-19 in Sardinia: the role of human leukocyte antigen-G 1.100
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 1.071
RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism 1.064
Disseminated Mycobacterium xenopi in an Adult with IL-12Rβ1 Deficiency 1.049
Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder 1.035
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity 1.019
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 980
Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation 961
Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritis 928
Diagnostic implications of genetic copy number variation in epilepsy plus 919
Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice 916
Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition 914
Acute kidney injury promotes development of papillary renal cell adenoma and carcinoma from renal progenitor cells 894
Decision trees to evaluate the risk of developing multiple sclerosis 882
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study 882
A novel splicing variant of col2a1 in a fetus with achondrogenesis type ii: Interpretation of pathogenicity of in-frame deletions 875
Clinical correlates in children with autism spectrum disorder and CNVs: systematic investigation in a clinical setting 871
Mosaic variegated aneuploidy: two new cases including a prenatal one 863
Differential diagnosis between Marfan syndrome and Loeys–Dietz syndrome type 4: A novel chromosomal deletion covering tgfb2 862
The double-sided of human leukocyte antigen-G molecules in type 1 autoimmune hepatitis 861
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin‑remodeling genes 853
Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report 848
Decision trees for early prediction of inadequate immune response to coronavirus infections: a pilot study on COVID-19 829
Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay 786
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder 786
Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype 781
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies 781
De novo unbalanced translocations have a complex history/aetiology 775
Genetic counseling during COVID-19 pandemic: Tuscany experience 766
Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation 753
Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome 753
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type 747
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 746
Cross-sectional study shows that impaired bone mineral status and metabolism are found in non mosaic triple X syndrome 739
Inverted duplications: how many of them are mosaic? 709
A novel stop codon variant affecting ΔNp63 isoforms associated with non-syndromic limb-mammary phenotype and uterine cervix dysplasia 709
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 707
Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence? 706
Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission 706
Myoclonic astatic epilepsy in a patient with a de novo 4q21.22q21.23 microduplication 704
Neurological phenomenology of the IRF2BPL mutation syndrome: Analysis of a new case and systematic review of the literature 703
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes 699
Michelangelo’s David: triumph of perfection or perfect combination of variation and disproportions? A human perspective 697
Distal renal tubular acidosis: a systematic approach from diagnosis to treatment 693
New Thoughts on Pediatric Genetic Obesity: Pathogenesis, Clinical Characteristics and Treatment Approach 690
Noninvasive Prenatal Diagnosis in a Family at Risk for Fraser Syndrome 686
A de novo 2q interstitial deletion in a patient with a Turner phenotype 683
Genomic architecture and chromosome rearrangements 659
Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression 656
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 655
Case report of an atypical early onset X-linked retinoschisis in monozygotic twins 612
STOP Pain Project—Opioid Response in Pediatric Cancer Patients and Gene Polymorphisms of Cytokine Pathways 608
Duplication of FOXP2 binding sites within CNTNAP2 gene in a girl with neurodevelopmental delay 598
Brain tumors in Li-Fraumeni syndrome: a commentary and a case of a gliosarcoma patient 595
Transient hyperoxaluria in a patient with inherited distal renal tubular acidosis 591
SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome 590
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases 578
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 578
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH 573
Tre casi di disgenesia ovarica associata a delezione Xp11.4 - pter e duplicazione Xq2 - qter de novo, di origine paterna. 571
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis 571
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching 570
Exclusive Neurogenic Bladder and Fecal Incontinency in an Achondroplasic Child Successfully Treated with Lumbar Foraminal Decompression 569
Pregnancy outcome of confined placental mosaicism: meta-analysis of cohort studies 563
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25 560
Targeted resequencing for analysis of gene mutations in pediatric Glioblastoma Multiforme 547
Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia 546
Un bambino con severo ritardo di crescita e cisti renali = A child with severe growth delay and renal cysts 539
SLMSuite: a suite of algorithms for segmenting genomic profiles 535
Severe Obesity Associated with Severe Hyperinsulinism and T2D in a Family with Mutation in SH2B1 Gene 535
Leigh-like neuroimaging features associated with new biallelic mutations in OPA1 516
MOLECULAR CHARACTERIZATION OF PEDIATRIC GLIONEURONAL TUMOR WITH NEUROPIL-LIKE ISLANDS: A GENOME-WIDE COPY NUMBER ANALYSIS 506
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 502
Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotype 499
De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s 485
MICRORNAS PROFILE IN PAEDIATRIC GBMS 484
Identificazione e caratterizzazione sistematica di cDNA umani e murini omologhi a geni mutanti in Drosophila. 481
Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature 481
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 468
Determinants of vitamin D levels in children and adolescents with Down syndrome 458
Evidence for a Pathogenic Role of CSMD1 in Childhood Apraxia of Speech 447
Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene 441
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene 441
Identification and characterization of a new human gene encoding a small protein with high homology to the proline-rich region of the SH3BGR gene 439
Bone mineral status and metabolism in patients with Williams-Beuren syndrome 417
Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome? 415
PROFILO CLINICO E MOLECOLARE DI PAZIENTI AFFETTI DA ACIDOSI TUBULARE RENALE DISTALE 413
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity 411
CARATTERIZZAZIONE CLINICA, MOLECOLARE E FUNZIONALE DI SOGGETTI CON ACIDOSI TUBULARE RENALE DISTALE 402
Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes 402
Totale 76.474
Salva come PNG Salva come JPEG
Categoria #
all - tutte 172.668
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 172.668
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021394 0 0 0 0 0 0 0 0 0 0 0 394
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
2025/202611.280 453 323 1.301 1.100 568 710 3.483 962 684 805 480 411
Totale 103.498