UNICA IRIS Institutional Research Information System

GIGLIO, SABRINA RITA
 Distribuzione geografica
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Continente #
EU - Europa 79.511
NA - Nord America 4.267
AS - Asia 678
SA - Sud America 15
OC - Oceania 9
AF - Africa 6
Totale 84.486
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Nazione #
IT - Italia 78.315
US - Stati Uniti d'America 4.207
RU - Federazione Russa 474
SG - Singapore 330
SE - Svezia 311
CN - Cina 173
DE - Germania 91
GB - Regno Unito 86
FI - Finlandia 74
VN - Vietnam 70
CA - Canada 56
FR - Francia 28
UA - Ucraina 24
HK - Hong Kong 19
IN - India 18
IE - Irlanda 17
NL - Olanda 15
ES - Italia 13
TR - Turchia 13
BE - Belgio 12
IR - Iran 12
BY - Bielorussia 11
KR - Corea 9
BR - Brasile 8
CH - Svizzera 8
JP - Giappone 8
PK - Pakistan 7
AU - Australia 6
IL - Israele 6
TW - Taiwan 6
AR - Argentina 5
CZ - Repubblica Ceca 5
NO - Norvegia 5
IQ - Iraq 4
LT - Lituania 4
MX - Messico 4
RO - Romania 4
MY - Malesia 3
NZ - Nuova Zelanda 3
ZA - Sudafrica 3
AT - Austria 2
DZ - Algeria 2
GR - Grecia 2
PE - Perù 2
PL - Polonia 2
AL - Albania 1
DK - Danimarca 1
HR - Croazia 1
HU - Ungheria 1
LV - Lettonia 1
MZ - Mozambico 1
PT - Portogallo 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
Totale 84.486
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Città #
Cagliari 70.937
Uta 6.841
Fairfield 651
Boardman 412
Wilmington 292
Ashburn 283
Woodbridge 277
Nyköping 267
Seattle 267
Houston 248
Cambridge 220
Chandler 168
Jacksonville 165
Boston 133
Singapore 119
Santa Clara 104
Ann Arbor 84
San Diego 76
Helsinki 71
Dong Ket 70
Rome 46
Shanghai 39
Toronto 39
Redwood City 35
London 32
Milan 27
Norwalk 24
Beijing 20
Mountain View 15
Hong Kong 14
Bari 13
Chicago 13
Frankfurt am Main 13
Los Angeles 13
Nanjing 13
Bologna 12
Florence 12
Guangzhou 12
Redmond 12
Minsk 11
New York 11
Padova 11
Sardara 9
Wuhan 9
Assèmini 7
Bogazici 7
Borås 7
Naples 7
Palermo 7
Paris 7
Kilburn 6
Livorno 6
Ottawa 6
Prescot 6
Seoul 6
Turin 6
Berlin 5
Columbus 5
Genoa 5
Jinan 5
Mumbai 5
Olbia 5
Oslo 5
Ploaghe 5
Porto Torres 5
San Mateo 5
Taipei 5
Wuxi 5
Acton 4
Andover 4
Bengaluru 4
Dolianova 4
Grassano 4
Islamabad 4
Jiaxing 4
Luras 4
Monserrato 4
Monza 4
New Bedfont 4
San Francisco 4
Sassari 4
Sestu 4
Torre del Greco 4
Washington 4
Arosio 3
Brescia 3
Brussels 3
Cadelbosco di Sopra 3
Calabritto 3
Cascina 3
Central 3
Cork 3
Curitiba 3
Detroit 3
Dublin 3
Düsseldorf 3
Hamburg 3
Hangzhou 3
Humble 3
Islington 3
Totale 82.390
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Nome #
Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian pediatric diabetes centers during 2007 to 2012 2.173
Reverse phenotyping after whole-Exome sequencing in steroid-resistant nephrotic syndrome 2.078
Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos 1.577
A microRNA profile of pediatric glioblastoma: The role of NUCKS1 upregulation 1.473
Natural killer-cell immunoglobulin-like receptors trigger differences in immune response to SARS-CoV-2 infection 1.273
PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With Alpelisib 1.067
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report 1.053
Can HbA1c combined with fasting plasma glucose help to assess priority for GCK-MODY vs HNF1A-MODY genetic testing? 1.026
Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome 976
RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism 972
Disseminated Mycobacterium xenopi in an Adult with IL-12Rβ1 Deficiency 952
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity 937
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 889
Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder 881
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 878
A Protective HLA Extended Haplotype Outweighs the Major COVID-19 Risk Factor Inherited From Neanderthals in the Sardinian Population 876
Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation 870
A review of the main genetic factors influencing the course of COVID-19 in Sardinia: the role of human leukocyte antigen-G 859
Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritis 844
Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition 833
Acute kidney injury promotes development of papillary renal cell adenoma and carcinoma from renal progenitor cells 797
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study 794
Diagnostic implications of genetic copy number variation in epilepsy plus 790
Mosaic variegated aneuploidy: two new cases including a prenatal one 786
Clinical correlates in children with autism spectrum disorder and CNVs: systematic investigation in a clinical setting 783
A novel splicing variant of col2a1 in a fetus with achondrogenesis type ii: Interpretation of pathogenicity of in-frame deletions 760
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin‑remodeling genes 739
Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report 717
Differential diagnosis between Marfan syndrome and Loeys–Dietz syndrome type 4: A novel chromosomal deletion covering tgfb2 710
De novo unbalanced translocations have a complex history/aetiology 691
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder 691
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies 683
Decision trees to evaluate the risk of developing multiple sclerosis 682
Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype 678
Genetic counseling during COVID-19 pandemic: Tuscany experience 668
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type 665
Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation 664
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 660
Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome 658
Decision trees for early prediction of inadequate immune response to coronavirus infections: a pilot study on COVID-19 647
The double-sided of human leukocyte antigen-G molecules in type 1 autoimmune hepatitis 645
Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay 639
Cross-sectional study shows that impaired bone mineral status and metabolism are found in non mosaic triple X syndrome 637
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 633
Inverted duplications: how many of them are mosaic? 632
A novel stop codon variant affecting ΔNp63 isoforms associated with non-syndromic limb-mammary phenotype and uterine cervix dysplasia 627
Myoclonic astatic epilepsy in a patient with a de novo 4q21.22q21.23 microduplication 623
Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence? 619
A de novo 2q interstitial deletion in a patient with a Turner phenotype 619
Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission 619
New Thoughts on Pediatric Genetic Obesity: Pathogenesis, Clinical Characteristics and Treatment Approach 614
Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice 612
Distal renal tubular acidosis: a systematic approach from diagnosis to treatment 594
Michelangelo’s David: triumph of perfection or perfect combination of variation and disproportions? A human perspective 593
Noninvasive Prenatal Diagnosis in a Family at Risk for Fraser Syndrome 589
Genomic architecture and chromosome rearrangements 586
Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression 583
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 572
Neurological phenomenology of the IRF2BPL mutation syndrome: Analysis of a new case and systematic review of the literature 557
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes 542
Transient hyperoxaluria in a patient with inherited distal renal tubular acidosis 527
Case report of an atypical early onset X-linked retinoschisis in monozygotic twins 522
Duplication of FOXP2 binding sites within CNTNAP2 gene in a girl with neurodevelopmental delay 522
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases 505
Brain tumors in Li-Fraumeni syndrome: a commentary and a case of a gliosarcoma patient 497
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH 497
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25 492
Exclusive Neurogenic Bladder and Fecal Incontinency in an Achondroplasic Child Successfully Treated with Lumbar Foraminal Decompression 489
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis 484
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 483
STOP Pain Project—Opioid Response in Pediatric Cancer Patients and Gene Polymorphisms of Cytokine Pathways 479
Tre casi di disgenesia ovarica associata a delezione Xp11.4 - pter e duplicazione Xq2 - qter de novo, di origine paterna. 476
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching 471
Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia 465
Pregnancy outcome of confined placental mosaicism: meta-analysis of cohort studies 457
SLMSuite: a suite of algorithms for segmenting genomic profiles 457
Un bambino con severo ritardo di crescita e cisti renali = A child with severe growth delay and renal cysts 453
SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome 443
Severe Obesity Associated with Severe Hyperinsulinism and T2D in a Family with Mutation in SH2B1 Gene 443
Targeted resequencing for analysis of gene mutations in pediatric Glioblastoma Multiforme 432
Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotype 428
MICRORNAS PROFILE IN PAEDIATRIC GBMS 423
MOLECULAR CHARACTERIZATION OF PEDIATRIC GLIONEURONAL TUMOR WITH NEUROPIL-LIKE ISLANDS: A GENOME-WIDE COPY NUMBER ANALYSIS 421
Leigh-like neuroimaging features associated with new biallelic mutations in OPA1 417
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 417
Identificazione e caratterizzazione sistematica di cDNA umani e murini omologhi a geni mutanti in Drosophila. 407
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 384
De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s 378
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene 373
Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene 370
Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature 367
Determinants of vitamin D levels in children and adolescents with Down syndrome 363
Identification and characterization of a new human gene encoding a small protein with high homology to the proline-rich region of the SH3BGR gene 355
CARATTERIZZAZIONE CLINICA, MOLECOLARE E FUNZIONALE DI SOGGETTI CON ACIDOSI TUBULARE RENALE DISTALE 352
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity 342
Bone mineral status and metabolism in patients with Williams-Beuren syndrome 338
Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome? 329
Diabetes mellitus in a girl with thyroid hormone resistance syndrome: A little recognized interaction between the two diseases 320
Reciprocal translocations: a trap for cytogenetists? 315
Urine-derived Human Renal Progenitor Cultures For Modeling Of Genetic Kidney Disorders 314
Totale 65.892
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Categoria #
all - tutte 133.351
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 133.351
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202066 0 0 0 0 0 33 16 8 0 3 3 3
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
2024/202544.333 14.253 17.470 6.661 3.869 1.797 283 0 0 0 0 0 0
Totale 84.893