UNICA IRIS Institutional Research Information System

GIGLIO, SABRINA RITA
 Distribuzione geografica
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Continente #
EU - Europa 90.865
NA - Nord America 9.379
AS - Asia 4.369
SA - Sud America 1.297
Continente sconosciuto - Info sul continente non disponibili 447
AF - Africa 139
OC - Oceania 17
Totale 106.513
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Nazione #
IT - Italia 88.726
US - Stati Uniti d'America 9.103
SG - Singapore 1.934
BR - Brasile 1.015
CN - Cina 949
VN - Vietnam 565
RU - Federazione Russa 500
SE - Svezia 355
DE - Germania 279
FR - Francia 248
HK - Hong Kong 244
FI - Finlandia 206
GB - Regno Unito 181
CA - Canada 145
BD - Bangladesh 143
AR - Argentina 120
IN - India 107
NL - Olanda 71
MX - Messico 62
ZA - Sudafrica 53
IQ - Iraq 51
EC - Ecuador 49
ID - Indonesia 47
UA - Ucraina 45
PK - Pakistan 41
AT - Austria 38
CO - Colombia 37
ES - Italia 35
IE - Irlanda 35
PL - Polonia 34
TR - Turchia 32
KR - Corea 28
JP - Giappone 26
MA - Marocco 26
UZ - Uzbekistan 25
SA - Arabia Saudita 23
VE - Venezuela 23
IR - Iran 18
MY - Malesia 18
CL - Cile 17
PH - Filippine 16
CH - Svizzera 15
BE - Belgio 14
IL - Israele 14
BY - Bielorussia 13
KE - Kenya 13
AU - Australia 12
PY - Paraguay 12
JM - Giamaica 11
EG - Egitto 10
JO - Giordania 10
LT - Lituania 10
TT - Trinidad e Tobago 10
HN - Honduras 9
NI - Nicaragua 9
PE - Perù 9
TW - Taiwan 9
UY - Uruguay 9
AZ - Azerbaigian 8
NP - Nepal 8
CZ - Repubblica Ceca 7
DK - Danimarca 7
LB - Libano 7
TN - Tunisia 7
AE - Emirati Arabi Uniti 6
DZ - Algeria 6
GT - Guatemala 6
HU - Ungheria 6
OM - Oman 6
NO - Norvegia 5
NZ - Nuova Zelanda 5
RO - Romania 5
BB - Barbados 4
CR - Costa Rica 4
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
PS - Palestinian Territory 3
PT - Portogallo 3
QA - Qatar 3
SC - Seychelles 3
SR - Suriname 3
AG - Antigua e Barbuda 2
AL - Albania 2
AO - Angola 2
BW - Botswana 2
DO - Repubblica Dominicana 2
GE - Georgia 2
KW - Kuwait 2
KZ - Kazakistan 2
LA - Repubblica Popolare Democratica del Laos 2
PA - Panama 2
Totale 106.028
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Città #
Cagliari 80.984
Uta 6.859
Ashburn 1.032
Singapore 819
Dallas 757
San Jose 693
Fairfield 652
Boardman 558
Council Bluffs 302
Wilmington 301
Woodbridge 277
Seattle 273
Nyköping 267
Houston 261
Hong Kong 231
Cambridge 221
Ho Chi Minh City 198
Los Angeles 196
Beijing 187
Helsinki 186
The Dalles 183
Santa Clara 181
Chandler 168
Jacksonville 166
Lauterbourg 158
Boston 148
Hanoi 122
New York 108
Munich 100
Buffalo 99
Chicago 97
São Paulo 96
Ann Arbor 84
Rome 84
San Diego 81
Redondo Beach 74
Dong Ket 70
Milan 59
Toronto 54
Shanghai 53
Nuremberg 46
Hefei 45
London 45
Frankfurt am Main 42
Orem 39
Redwood City 38
Atlanta 36
Salt Lake City 34
Columbus 32
Guangzhou 32
Mexico City 32
Montreal 30
Amsterdam 28
Chennai 27
San Francisco 27
Phoenix 25
Seoul 25
Elk Grove Village 24
Norwalk 24
Warsaw 23
Rio de Janeiro 22
Tashkent 22
Johannesburg 21
Bari 19
Brooklyn 19
Vienna 19
Bologna 18
Curitiba 18
Dhaka 18
Dublin 18
Tianjin 18
Tokyo 18
Stockholm 17
Tampa 17
Belo Horizonte 16
Brasília 16
Shenzhen 16
Florence 15
Guarulhos 15
Guayaquil 15
Las Vegas 15
Mountain View 15
Nanjing 15
Wuhan 15
Baghdad 14
Casablanca 14
Charlotte 14
Da Nang 14
Denver 14
Haiphong 13
Hangzhou 13
Jakarta 13
Minsk 13
Nairobi 13
Paris 13
Manchester 12
Mumbai 12
Naples 12
Redmond 12
Turin 12
Totale 98.718
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Nome #
Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian pediatric diabetes centers during 2007 to 2012 2.264
Reverse phenotyping after whole-Exome sequencing in steroid-resistant nephrotic syndrome 2.251
Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos 1.718
A microRNA profile of pediatric glioblastoma: The role of NUCKS1 upregulation 1.563
Natural killer-cell immunoglobulin-like receptors trigger differences in immune response to SARS-CoV-2 infection 1.474
A Protective HLA Extended Haplotype Outweighs the Major COVID-19 Risk Factor Inherited From Neanderthals in the Sardinian Population 1.276
PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With Alpelisib 1.215
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report 1.160
Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome 1.152
A review of the main genetic factors influencing the course of COVID-19 in Sardinia: the role of human leukocyte antigen-G 1.139
Can HbA1c combined with fasting plasma glucose help to assess priority for GCK-MODY vs HNF1A-MODY genetic testing? 1.110
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 1.093
RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism 1.071
Disseminated Mycobacterium xenopi in an Adult with IL-12Rβ1 Deficiency 1.068
Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder 1.053
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity 1.034
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 987
Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation 971
Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritis 934
Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice 932
Diagnostic implications of genetic copy number variation in epilepsy plus 928
Acute kidney injury promotes development of papillary renal cell adenoma and carcinoma from renal progenitor cells 923
Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition 923
Decision trees to evaluate the risk of developing multiple sclerosis 907
The double-sided of human leukocyte antigen-G molecules in type 1 autoimmune hepatitis 900
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study 896
A novel splicing variant of col2a1 in a fetus with achondrogenesis type ii: Interpretation of pathogenicity of in-frame deletions 894
Differential diagnosis between Marfan syndrome and Loeys–Dietz syndrome type 4: A novel chromosomal deletion covering tgfb2 891
Clinical correlates in children with autism spectrum disorder and CNVs: systematic investigation in a clinical setting 884
Mosaic variegated aneuploidy: two new cases including a prenatal one 876
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin‑remodeling genes 870
Decision trees for early prediction of inadequate immune response to coronavirus infections: a pilot study on COVID-19 862
Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report 860
Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay 806
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder 800
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies 799
De novo unbalanced translocations have a complex history/aetiology 787
Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype 786
Genetic counseling during COVID-19 pandemic: Tuscany experience 782
Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation 776
Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome 776
Michelangelo’s David: triumph of perfection or perfect combination of variation and disproportions? A human perspective 764
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type 757
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 753
Cross-sectional study shows that impaired bone mineral status and metabolism are found in non mosaic triple X syndrome 747
Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence? 724
Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission 724
Neurological phenomenology of the IRF2BPL mutation syndrome: Analysis of a new case and systematic review of the literature 722
Inverted duplications: how many of them are mosaic? 721
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 720
Distal renal tubular acidosis: a systematic approach from diagnosis to treatment 720
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes 718
A novel stop codon variant affecting ΔNp63 isoforms associated with non-syndromic limb-mammary phenotype and uterine cervix dysplasia 717
Myoclonic astatic epilepsy in a patient with a de novo 4q21.22q21.23 microduplication 714
New Thoughts on Pediatric Genetic Obesity: Pathogenesis, Clinical Characteristics and Treatment Approach 704
Noninvasive Prenatal Diagnosis in a Family at Risk for Fraser Syndrome 703
A de novo 2q interstitial deletion in a patient with a Turner phenotype 690
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 671
Genomic architecture and chromosome rearrangements 669
Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression 669
STOP Pain Project—Opioid Response in Pediatric Cancer Patients and Gene Polymorphisms of Cytokine Pathways 630
Tre casi di disgenesia ovarica associata a delezione Xp11.4 - pter e duplicazione Xq2 - qter de novo, di origine paterna. 619
Case report of an atypical early onset X-linked retinoschisis in monozygotic twins 619
SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome 613
Duplication of FOXP2 binding sites within CNTNAP2 gene in a girl with neurodevelopmental delay 608
Transient hyperoxaluria in a patient with inherited distal renal tubular acidosis 608
Brain tumors in Li-Fraumeni syndrome: a commentary and a case of a gliosarcoma patient 604
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 589
Pregnancy outcome of confined placental mosaicism: meta-analysis of cohort studies 586
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH 586
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis 584
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching 583
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases 583
Exclusive Neurogenic Bladder and Fecal Incontinency in an Achondroplasic Child Successfully Treated with Lumbar Foraminal Decompression 579
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25 569
Targeted resequencing for analysis of gene mutations in pediatric Glioblastoma Multiforme 559
Un bambino con severo ritardo di crescita e cisti renali = A child with severe growth delay and renal cysts 557
Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia 557
Severe Obesity Associated with Severe Hyperinsulinism and T2D in a Family with Mutation in SH2B1 Gene 546
SLMSuite: a suite of algorithms for segmenting genomic profiles 540
Leigh-like neuroimaging features associated with new biallelic mutations in OPA1 526
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 514
MOLECULAR CHARACTERIZATION OF PEDIATRIC GLIONEURONAL TUMOR WITH NEUROPIL-LIKE ISLANDS: A GENOME-WIDE COPY NUMBER ANALYSIS 513
De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s 509
Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotype 507
Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature 495
MICRORNAS PROFILE IN PAEDIATRIC GBMS 492
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 488
Identificazione e caratterizzazione sistematica di cDNA umani e murini omologhi a geni mutanti in Drosophila. 485
Determinants of vitamin D levels in children and adolescents with Down syndrome 469
Evidence for a Pathogenic Role of CSMD1 in Childhood Apraxia of Speech 462
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene 459
Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene 452
Identification and characterization of a new human gene encoding a small protein with high homology to the proline-rich region of the SH3BGR gene 450
PROFILO CLINICO E MOLECOLARE DI PAZIENTI AFFETTI DA ACIDOSI TUBULARE RENALE DISTALE 430
Bone mineral status and metabolism in patients with Williams-Beuren syndrome 427
Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome? 424
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity 423
Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes 418
CARATTERIZZAZIONE CLINICA, MOLECOLARE E FUNZIONALE DI SOGGETTI CON ACIDOSI TUBULARE RENALE DISTALE 417
Totale 78.077
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Categoria #
all - tutte 183.547
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 183.547
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20225.134 0 0 0 232 381 669 286 301 440 517 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
2025/202611.289 453 323 1.301 1.100 568 710 3.483 962 684 805 480 420
2026/20273.006 249 671 695 1.391 0 0 0 0 0 0 0 0
Totale 106.513