IRIS
GIGLIO, SABRINA RITA
 Distribuzione geografica
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Continente #
EU - Europa 2.809
NA - Nord America 1.850
AS - Asia 595
Continente sconosciuto - Info sul continente non disponibili 228
SA - Sud America 34
AF - Africa 9
Totale 5.525
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Nazione #
US - Stati Uniti d'America 1.717
IT - Italia 1.481
RU - Federazione Russa 1.259
SG - Singapore 234
CN - Cina 199
CA - Canada 69
HK - Hong Kong 46
VN - Vietnam 34
BD - Bangladesh 29
BR - Brasile 19
PK - Pakistan 19
NL - Olanda 16
CR - Costa Rica 13
GB - Regno Unito 12
JM - Giamaica 12
MX - Messico 12
FR - Francia 11
HN - Honduras 9
DE - Germania 8
SV - El Salvador 5
TR - Turchia 5
UA - Ucraina 5
GT - Guatemala 4
IN - India 4
IQ - Iraq 4
JP - Giappone 4
RO - Romania 4
AR - Argentina 3
CO - Colombia 3
ES - Italia 3
ID - Indonesia 3
KE - Kenya 3
TT - Trinidad e Tobago 3
EC - Ecuador 2
HU - Ungheria 2
MY - Malesia 2
NG - Nigeria 2
NI - Nicaragua 2
OM - Oman 2
PL - Polonia 2
PY - Paraguay 2
SE - Svezia 2
SX - ???statistics.table.value.countryCode.SX??? 2
VE - Venezuela 2
AE - Emirati Arabi Uniti 1
AW - Aruba 1
CL - Cile 1
CW - ???statistics.table.value.countryCode.CW??? 1
FI - Finlandia 1
GE - Georgia 1
GP - Guadalupe 1
IE - Irlanda 1
JO - Giordania 1
KZ - Kazakistan 1
LT - Lituania 1
MA - Marocco 1
NP - Nepal 1
PH - Filippine 1
PR - Porto Rico 1
PS - Palestinian Territory 1
RS - Serbia 1
SA - Arabia Saudita 1
SC - Seychelles 1
SR - Suriname 1
TH - Thailandia 1
TZ - Tanzania 1
UY - Uruguay 1
UZ - Uzbekistan 1
VI - Stati Uniti Isole Vergini 1
ZA - Sudafrica 1
Totale 5.300
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Città #
Council Bluffs 402
Moscow 279
Ashburn 248
San Jose 176
Milan 174
Rome 165
Naples 110
Phoenix 100
Singapore 78
Florence 49
Turin 47
Beijing 46
Hong Kong 43
Santa Clara 39
Palermo 32
Bologna 28
Miano 27
Bari 23
Los Angeles 23
Dallas 19
Brescia 18
Islamabad 18
Cagliari 15
Padua 15
Modena 14
Chicago 13
Venice 13
Afragola 11
Brooklyn 10
Genoa 10
Indpls 10
Verona 10
Catania 9
Ho Chi Minh City 9
Kingston 9
San José 9
Atlanta 8
Houston 8
North Bergen 8
Omaha 8
Perugia 8
Taranto 8
Denver 7
Hanoi 7
Mexico City 7
San Francisco 7
Buffalo 6
Henagar 6
Montreal 6
New York 6
Plainfield 6
Rimini 6
Treviso 6
Ancona 5
Charlotte 5
Las Vegas 5
Mission 5
Newark 5
Pescara 5
Philadelphia 5
Queens 5
Barnet 4
Brooksville 4
Capaccio Paestum 4
Da Nang 4
El Paso 4
Lakeland 4
Lebanon 4
London 4
Memphis 4
Milwaukee 4
Nuremberg 4
Ottawa 4
Paris 4
Parma 4
San Salvador 4
Toronto 4
Trani 4
Vancouver 4
Ada 3
Alhambra 3
Angri 3
Aversa 3
Bonneau 3
Brampton 3
Cardito 3
Caserta 3
Cleveland 3
Columbus 3
Fort Wayne 3
Grottaglie 3
Hartsville 3
Kyiv 3
Miami 3
Monza 3
New Port Richey 3
Prato 3
Princeton 3
San Antonio 3
Santa Cruz 3
Totale 2.594
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Nome #
Pregnancy outcome of confined placental mosaicism: meta-analysis of cohort studies 98
HOMOZYGOUS DELETION IN STXBP2 CAUSATIVE OF FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS TYPE 5 (FHL-5) 79
Pregnancy Outcome of Confined Placental Mosaicism: Meta-analysis of Cohort Studies 74
Common Long Human Inversion Polymorphism on Chromosome 8p 58
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 54
Calreticulin Mutation Is Associated with Milder Disease in Patients with Post Essential Thrombocythemia Myelofibrosis (PET-MF) Compared with JAK2V617F Mutation: A Study from the AGIMM Group 51
Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains 50
NEXT GENERATION SEQUENCING: IMPLICATIONS IN CLINICAL PRACTICE AND DIAGNOSIS OF STEROID-RESISTANT NEPHROTIC SYNDROME 48
URINE-DERIVED HUMAN RENAL PROGENITOR CULTURES FOR MODELING OF GENETIC KIDNEY DISORDERS 47
Identification and characterization of a new candidate gene for steroid resistant nephrotic syndrome 44
Association Between TP53 Mutations and Platinum Resistance in a Cohort of High-Grade Serous Ovarian Cancer Patients: Novel Implications for Personalized Therapeutics 44
Human leukocyte antigen-G in hepatocellular carcinoma driven by chronic viral hepatitis or steatotic liver disease 43
Is the experience mutation of G-CSF truly a predictive indicator of trends in early myolodysplasia or leukemia? 43
Heterogeneous Genetic Alterations Predict Resistance To Immunosuppressive Treatments In Sporadic Steroid-resistant Nephrotic Syndrome 42
Michelangelo’s David: triumph of perfection or perfect combination of variation and disproportions? A human perspective 42
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 40
Severe Obesity Associated with Severe Hyperinsulinism and T2D in a Family with Mutation in SH2B1 Gene 40
Urine-derived Human Renal Progenitor Cultures For Modeling Of Genetic Kidney Disorders 39
Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature 38
Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia 37
Genomic architecture and chromosome rearrangements 36
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity 36
Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardation 36
Can HbA1c combined with fasting plasma glucose help to assess priority for GCK-MODY vs HNF1A-MODY genetic testing? 36
MICRORNAS PROFILE IN PAEDIATRIC GBMS 35
Olfactory receptor gene clusters mediate common chromosome rearrangements 35
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis 35
Diabetes mellitus in a girl with thyroid hormone resistance syndrome: a little recognized interaction between the two diseases 35
Acute kidney injury promotes development of papillary renal cell adenoma and carcinoma from renal progenitor cells 35
High throughput sequencing in sporadic forms of steroid-resistant nephrotic syndrome in children frequently identifies heterogeneous genetic alterations that predict resistance to immunosuppressive treatments 35
Targeted resequencing for analysis of gene mutations in pediatric Glioblastoma Multiforme 34
Y-chromosome microdeletions are not associated with SHOX haploinsufficiency 34
STUDIO CLINICO, GENETICO E MOLECOLARE DI FAMIGLIE ITALIANE AFFETTE DA MODY 34
A novel pseudoautosomal gene encoding a putative GTP-bindig protein resides in the vicinity of the Xp/Yp telomere 34
High throughput sequencing in sporadic forms of steroid-resistant nephrotic syndrome: heterogeneous genetic alterations can predict resistance to treatments 34
A microRNA profile of pediatric glioblastoma: The role of NUCKS1 upregulation 33
6q24 duplication and transient neonatal diabetes: a possible differential diagnosis with Beckwith-Wiedemann syndrome? 33
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation 33
Inversion Chromosomes 33
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients 33
NEXT GENERATION SEQUENCING: IMPLICAZIONI NELLA PRATICA CLINICA E NELLA DIAGNOSI DELLA SINDROME NEFROSICA STEROIDO-RESISTENTE 33
A de novo 2q interstitial deletion in a patient with a Turner phenotype 33
Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis 32
De novo unbalanced translocations have a complex history/aetiology 32
A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family 32
Identificazione e caratterizzazione sistematica di cDNA umani e murini omologhi a geni mutanti in Drosophila 32
Tre casi di disgenesia ovarica associata a delezione Xp11.4 - pter e duplicazione Xq2 - qter de novo, di origine paterna 32
A Protective HLA Extended Haplotype Outweighs the Major COVID-19 Risk Factor Inherited From Neanderthals in the Sardinian Population 32
Array comparative genomic hybridisation in a foetus with thoracic ectopia cordis: a case report 31
MOLECULAR CHARACTERIZATION OF PEDIATRIC GLIONEURONAL TUMOR WITH NEUROPIL-LIKE ISLANDS: A GENOME-WIDE COPY NUMBER ANALYSIS 31
NGS e malattie renali: aspetti clinici e molecolari delle acidosi tubulari renali 31
Translocation (8;16) in a patient with acute myelomonocytic leukemia, occurring after treatment with fludarabine for a low-grade non-Hodgkin's lymphoma 31
Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication 31
Mosaic variegated aneuploidy: two new cases including a prenatal one 30
Natural killer-cell immunoglobulin-like receptors trigger differences in immune response to SARS-CoV-2 infection 30
Multiorgan Infiltration by CD8+ T Cells and 1p;16p Translocation in a Patient with Hypogammaglobulinemia and a Reduced Number of B Cells 30
The promise and challenge of high throughput sequencing to discover genes involved in Medullary Sponge Kidney disease 30
A novel splicing variant of col2a1 in a fetus with achondrogenesis type ii: Interpretation of pathogenicity of in-frame deletions 30
Constitutional copy number amplifications: rare or under-evaluated? Revisiting a 25-year-old cold case 30
Olfactory receptor-gene clusters, genomic inversion polymorphisms, and common chromosome rearrangements 30
PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With Alpelisib 30
PROFILO CLINICO E MOLECOLARE DI PAZIENTI AFFETTI DA ACIDOSI TUBULARE RENALE DISTALE 29
TOWARD THE GENETIC BASIS OF OESOPHAGEAL ATRESIA: CLINICAL AND MOLECULAR STUDY BY NEXT GENERATION SEQUENCING 29
New Thoughts on Pediatric Genetic Obesity: Pathogenesis, Clinical Characteristics and Treatment Approach 29
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching 29
Next generation sequencing in renal disorders: molecular and clinical aspects of renal tubular acidosis 29
Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome? 29
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 29
8.5 Mb deletion at distal 5p in a male ascertained for azoospermia 29
Structure and mutation analysis of the glycogen storage disease type 1b gene 28
A novel stop codon variant affecting ΔNp63 isoforms associated with non-syndromic limb-mammary phenotype and uterine cervix dysplasia 28
CARATTERIZZAZIONE CLINICA, MOLECOLARE E FUNZIONALE DI SOGGETTI CON ACIDOSI TUBULARE RENALE DISTALE 28
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 28
Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q 28
MYOCLONIC ASTATIC EPILEPSY IN A PATIENT WITH A DE NOVO 4q21.22q21.23 MICRODUPLICATION 28
Identification and characterization of a new human gene encoding a small protein with high homology to the proline-rich region of the SH3BGR gene 28
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients 28
Urine-derived human renal progenitor cultures for modeling of genetic kidney disorders in subject studied by Next Generation Sequencing 28
Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome 28
Human urine-derived renal progenitors for personalized modeling of genetic kidney disorders 28
Inverted low copy repeats and a common 8p23 inversion polymorphism 27
Assignment of NUFIP1 (Nuclear FMRP Interacting Protein 1) gene to chromosome and assignment of a pseudogene to chromosome 6q12 27
Reply-MSK and dRTA: a puzzling association 27
Fenotipo Turner associato ad una delezione interstiziale sul braccio lungo del cromosoma 2 27
STOP Pain Project—Opioid Response in Pediatric Cancer Patients and Gene Polymorphisms of Cytokine Pathways 27
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion 27
Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes 27
Reciprocal translocations: a trap for cytogenetists? 27
Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome 27
Risk and Association of Specific HLA Alleles With Nintedanib-Induced Gastrointestinal Adverse Reactions: A Discovery Study in an Italian Population 27
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene 27
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes 27
Molecular mechanisms generating and stabilizing terminal 22q13Deletions in 44 subjects with Phelan/McDermid Syndrome 27
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes 26
Noninvasive Prenatal Diagnosis in a Family at Risk for Fraser Syndrome 26
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study 26
Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes 26
Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation 26
Un bambino con severo ritardo di crescita e cisti renali = A child with severe growth delay and renal cysts 26
Expression of β-adrenergic receptors in pediatric malignant brain tumors 26
Totale 3.426
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Categoria #
all - tutte 35.587
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 35.587
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2022/20234 2 1 0 0 0 1 0 0 0 0 0 0
2024/20256 2 0 0 0 0 1 0 0 1 2 0 0
2025/20262.455 4 4 17 28 18 4 6 19 1.780 461 39 75
2026/20273.059 153 543 542 1.821 0 0 0 0 0 0 0 0
Totale 5.525