UNICA IRIS Institutional Research Information System

GIGLIO, SABRINA RITA
 Distribuzione geografica
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Continente #
EU - Europa 89.952
NA - Nord America 8.213
AS - Asia 4.356
SA - Sud America 1.284
Continente sconosciuto - Info sul continente non disponibili 445
AF - Africa 136
OC - Oceania 15
Totale 104.401
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Nazione #
IT - Italia 87.849
US - Stati Uniti d'America 8.004
SG - Singapore 1.932
BR - Brasile 1.006
CN - Cina 947
VN - Vietnam 564
RU - Federazione Russa 495
SE - Svezia 351
DE - Germania 276
FR - Francia 247
HK - Hong Kong 243
FI - Finlandia 206
GB - Regno Unito 166
BD - Bangladesh 141
AR - Argentina 120
CA - Canada 112
IN - India 107
NL - Olanda 68
MX - Messico 60
ZA - Sudafrica 53
IQ - Iraq 51
EC - Ecuador 49
ID - Indonesia 47
UA - Ucraina 45
PK - Pakistan 41
AT - Austria 38
CO - Colombia 36
ES - Italia 35
IE - Irlanda 34
PL - Polonia 34
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
CH - Svizzera 15
BE - Belgio 14
BY - Bielorussia 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
HN - Honduras 7
JM - Giamaica 7
LB - Libano 7
LT - Lituania 7
TN - Tunisia 7
AE - Emirati Arabi Uniti 6
DK - Danimarca 6
DZ - Algeria 6
HU - Ungheria 6
OM - Oman 6
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
GT - Guatemala 2
KW - Kuwait 2
KZ - Kazakistan 2
LA - Repubblica Popolare Democratica del Laos 2
PA - Panama 2
SI - Slovenia 2
SN - Senegal 2
Totale 103.927
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Città #
Cagliari 80.154
Uta 6.859
Singapore 818
Dallas 746
Ashburn 659
Fairfield 652
Boardman 557
San Jose 557
Council Bluffs 300
Wilmington 299
Woodbridge 277
Seattle 272
Nyköping 267
Houston 260
Hong Kong 230
Cambridge 221
Ho Chi Minh City 197
Beijing 187
Helsinki 186
The Dalles 183
Los Angeles 182
Chandler 168
Jacksonville 165
Lauterbourg 158
Boston 148
Santa Clara 142
Hanoi 122
Munich 100
Buffalo 99
New York 91
São Paulo 90
Chicago 89
Ann Arbor 84
San Diego 81
Rome 76
Redondo Beach 74
Dong Ket 70
Shanghai 53
Milan 51
Toronto 47
Hefei 45
Nuremberg 45
London 43
Frankfurt am Main 42
Redwood City 38
Orem 36
Guangzhou 32
Mexico City 32
Salt Lake City 32
Columbus 30
Amsterdam 28
Chennai 27
Seoul 25
Atlanta 24
Elk Grove Village 24
Montreal 24
Norwalk 24
San Francisco 24
Warsaw 23
Rio de Janeiro 22
Tashkent 22
Johannesburg 21
Brooklyn 19
Vienna 19
Bari 18
Curitiba 18
Dublin 18
Tianjin 18
Tokyo 18
Dhaka 17
Stockholm 17
Belo Horizonte 16
Bologna 16
Brasília 16
Shenzhen 16
Tampa 16
Florence 15
Guarulhos 15
Guayaquil 15
Mountain View 15
Nanjing 15
Phoenix 15
Wuhan 15
Baghdad 14
Casablanca 14
Da Nang 14
Haiphong 13
Hangzhou 13
Jakarta 13
Minsk 13
Nairobi 13
Paris 13
Charlotte 12
Manchester 12
Mumbai 12
Naples 12
Redmond 12
Buenos Aires 11
Denver 11
Lappeenranta 11
Totale 97.194
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Nome #
Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian pediatric diabetes centers during 2007 to 2012 2.254
Reverse phenotyping after whole-Exome sequencing in steroid-resistant nephrotic syndrome 2.235
Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos 1.699
A microRNA profile of pediatric glioblastoma: The role of NUCKS1 upregulation 1.549
Natural killer-cell immunoglobulin-like receptors trigger differences in immune response to SARS-CoV-2 infection 1.461
A Protective HLA Extended Haplotype Outweighs the Major COVID-19 Risk Factor Inherited From Neanderthals in the Sardinian Population 1.262
PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With Alpelisib 1.201
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report 1.147
Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome 1.143
A review of the main genetic factors influencing the course of COVID-19 in Sardinia: the role of human leukocyte antigen-G 1.117
Can HbA1c combined with fasting plasma glucose help to assess priority for GCK-MODY vs HNF1A-MODY genetic testing? 1.101
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 1.082
RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism 1.066
Disseminated Mycobacterium xenopi in an Adult with IL-12Rβ1 Deficiency 1.052
Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder 1.039
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity 1.022
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 981
Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation 963
Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritis 929
Diagnostic implications of genetic copy number variation in epilepsy plus 919
Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition 916
Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice 916
Acute kidney injury promotes development of papillary renal cell adenoma and carcinoma from renal progenitor cells 898
Decision trees to evaluate the risk of developing multiple sclerosis 889
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study 886
The double-sided of human leukocyte antigen-G molecules in type 1 autoimmune hepatitis 876
A novel splicing variant of col2a1 in a fetus with achondrogenesis type ii: Interpretation of pathogenicity of in-frame deletions 876
Clinical correlates in children with autism spectrum disorder and CNVs: systematic investigation in a clinical setting 875
Differential diagnosis between Marfan syndrome and Loeys–Dietz syndrome type 4: A novel chromosomal deletion covering tgfb2 868
Mosaic variegated aneuploidy: two new cases including a prenatal one 866
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin‑remodeling genes 859
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-19 838
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder 790
Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay 789
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies 783
Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype 781
De novo unbalanced translocations have a complex history/aetiology 780
Genetic counseling during COVID-19 pandemic: Tuscany experience 770
Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome 762
Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation 761
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type 750
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 740
Michelangelo’s David: triumph of perfection or perfect combination of variation and disproportions? A human perspective 734
Inverted duplications: how many of them are mosaic? 712
Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence? 711
Neurological phenomenology of the IRF2BPL mutation syndrome: Analysis of a new case and systematic review of the literature 711
A novel stop codon variant affecting ΔNp63 isoforms associated with non-syndromic limb-mammary phenotype and uterine cervix dysplasia 710
Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission 710
Myoclonic astatic epilepsy in a patient with a de novo 4q21.22q21.23 microduplication 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 708
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes 702
Distal renal tubular acidosis: a systematic approach from diagnosis to treatment 699
New Thoughts on Pediatric Genetic Obesity: Pathogenesis, Clinical Characteristics and Treatment Approach 694
Noninvasive Prenatal Diagnosis in a Family at Risk for Fraser Syndrome 692
A de novo 2q interstitial deletion in a patient with a Turner phenotype 686
Genomic architecture and chromosome rearrangements 663
Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression 658
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 657
Case report of an atypical early onset X-linked retinoschisis in monozygotic twins 615
STOP Pain Project—Opioid Response in Pediatric Cancer Patients and Gene Polymorphisms of Cytokine Pathways 614
Duplication of FOXP2 binding sites within CNTNAP2 gene in a girl with neurodevelopmental delay 599
Brain tumors in Li-Fraumeni syndrome: a commentary and a case of a gliosarcoma patient 599
Transient hyperoxaluria in a patient with inherited distal renal tubular acidosis 598
SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome 595
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 581
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases 579
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching 575
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH 574
Tre casi di disgenesia ovarica associata a delezione Xp11.4 - pter e duplicazione Xq2 - qter de novo, di origine paterna. 573
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis 573
Exclusive Neurogenic Bladder and Fecal Incontinency in an Achondroplasic Child Successfully Treated with Lumbar Foraminal Decompression 570
Pregnancy outcome of confined placental mosaicism: meta-analysis of cohort studies 566
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25 563
Targeted resequencing for analysis of gene mutations in pediatric Glioblastoma Multiforme 550
Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia 550
Un bambino con severo ritardo di crescita e cisti renali = A child with severe growth delay and renal cysts 541
Severe Obesity Associated with Severe Hyperinsulinism and T2D in a Family with Mutation in SH2B1 Gene 540
SLMSuite: a suite of algorithms for segmenting genomic profiles 536
Leigh-like neuroimaging features associated with new biallelic mutations in OPA1 519
MOLECULAR CHARACTERIZATION OF PEDIATRIC GLIONEURONAL TUMOR WITH NEUROPIL-LIKE ISLANDS: A GENOME-WIDE COPY NUMBER ANALYSIS 508
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 505
Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotype 500
De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s 495
MICRORNAS PROFILE IN PAEDIATRIC GBMS 486
Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature 484
Identificazione e caratterizzazione sistematica di cDNA umani e murini omologhi a geni mutanti in Drosophila. 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 474
Determinants of vitamin D levels in children and adolescents with Down syndrome 460
Evidence for a Pathogenic Role of CSMD1 in Childhood Apraxia of Speech 451
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene 446
Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene 444
Identification and characterization of a new human gene encoding a small protein with high homology to the proline-rich region of the SH3BGR gene 444
PROFILO CLINICO E MOLECOLARE DI PAZIENTI AFFETTI DA ACIDOSI TUBULARE RENALE DISTALE 419
Bone mineral status and metabolism in patients with Williams-Beuren syndrome 419
Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome? 416
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity 414
CARATTERIZZAZIONE CLINICA, MOLECOLARE E FUNZIONALE DI SOGGETTI CON ACIDOSI TUBULARE RENALE DISTALE 408
Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes 404
Totale 76.909
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Categoria #
all - tutte 177.277
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 177.277
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20225.907 0 527 246 232 381 669 286 301 440 517 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
2025/202611.289 453 323 1.301 1.100 568 710 3.483 962 684 805 480 420
2026/2027894 249 645 0 0 0 0 0 0 0 0 0 0
Totale 104.401