IRIS
GIGLIO, SABRINA RITA
 Distribuzione geografica
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Continente #
EU - Europa 1.384
NA - Nord America 783
AS - Asia 581
Continente sconosciuto - Info sul continente non disponibili 217
SA - Sud America 30
AF - Africa 9
Totale 3.004
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Nazione #
RU - Federazione Russa 1.259
US - Stati Uniti d'America 722
SG - Singapore 229
CN - Cina 196
IT - Italia 76
HK - Hong Kong 44
VN - Vietnam 34
CA - Canada 29
BD - Bangladesh 28
BR - Brasile 19
PK - Pakistan 19
NL - Olanda 14
FR - Francia 9
MX - Messico 9
GB - Regno Unito 8
DE - Germania 7
HN - Honduras 6
JM - Giamaica 6
CR - Costa Rica 5
IN - India 4
IQ - Iraq 4
TR - Turchia 4
AR - Argentina 3
ID - Indonesia 3
KE - Kenya 3
HU - Ungheria 2
JP - Giappone 2
MY - Malesia 2
NG - Nigeria 2
OM - Oman 2
PY - Paraguay 2
SE - Svezia 2
UA - Ucraina 2
AE - Emirati Arabi Uniti 1
AW - Aruba 1
CL - Cile 1
CO - Colombia 1
CW - ???statistics.table.value.countryCode.CW??? 1
EC - Ecuador 1
ES - Italia 1
FI - Finlandia 1
GE - Georgia 1
GT - Guatemala 1
IE - Irlanda 1
JO - Giordania 1
KZ - Kazakistan 1
MA - Marocco 1
NP - Nepal 1
PH - Filippine 1
PL - Polonia 1
PR - Porto Rico 1
PS - Palestinian Territory 1
RS - Serbia 1
SA - Arabia Saudita 1
SC - Seychelles 1
SR - Suriname 1
SV - El Salvador 1
SX - ???statistics.table.value.countryCode.SX??? 1
TH - Thailandia 1
TT - Trinidad e Tobago 1
TZ - Tanzania 1
UY - Uruguay 1
UZ - Uzbekistan 1
VE - Venezuela 1
VI - Stati Uniti Isole Vergini 1
ZA - Sudafrica 1
Totale 2.789
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Città #
Council Bluffs 386
Moscow 279
Singapore 75
Beijing 44
Hong Kong 41
Santa Clara 27
Ashburn 23
San Jose 19
Islamabad 18
Dallas 16
Turin 12
Ho Chi Minh City 9
Indpls 9
Los Angeles 9
Chicago 8
Omaha 8
Hanoi 7
Brooklyn 6
Henagar 6
Mexico City 6
Kingston 5
Barnet 4
Brooksville 4
Da Nang 4
El Paso 4
Houston 4
Lakeland 4
Lebanon 4
Memphis 4
Milan 4
Milwaukee 4
Mission 4
Montreal 4
Nuremberg 4
Philadelphia 4
San José 4
Ada 3
Bonneau 3
Buffalo 3
Denver 3
Florence 3
Fort Wayne 3
Hartsville 3
London 3
New Port Richey 3
New York 3
Paris 3
Plainfield 3
Rome 3
San Francisco 3
The Dalles 3
Toronto 3
Vancouver 3
Abuja 2
Amsterdam 2
Ankara 2
Brescia 2
Detroit 2
Fontana 2
Frankfurt am Main 2
Haiphong 2
Hone 2
Las Vegas 2
Lauterbourg 2
Miami 2
Monterrey 2
Muscat 2
Nairobi 2
Princeton 2
Pécs 2
Riardo 2
San Antonio 2
São Paulo 2
Verona 2
West Palm Beach 2
Xiamen 2
Abbotsford British Columbia 1
Ahmedabad 1
Alajuela 1
Amman 1
Anápolis 1
Araraquara 1
Asunción 1
Augusta 1
Basra 1
Bay Shore 1
Bedford 1
Belgrade 1
Beverly 1
Boardman 1
Boston 1
Braintree 1
Breinigsville 1
Buckeye 1
Burnaby 1
Buxton 1
Caen 1
Calgary 1
Calhoun City 1
Can Tho 1
Totale 1.194
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Nome #
Pregnancy outcome of confined placental mosaicism: meta-analysis of cohort studies 93
Pregnancy Outcome of Confined Placental Mosaicism: Meta-analysis of Cohort Studies 69
HOMOZYGOUS DELETION IN STXBP2 CAUSATIVE OF FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS TYPE 5 (FHL-5) 50
Common Long Human Inversion Polymorphism on Chromosome 8p 48
Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains 46
NEXT GENERATION SEQUENCING: IMPLICATIONS IN CLINICAL PRACTICE AND DIAGNOSIS OF STEROID-RESISTANT NEPHROTIC SYNDROME 39
Identification and characterization of a new candidate gene for steroid resistant nephrotic syndrome 33
URINE-DERIVED HUMAN RENAL PROGENITOR CULTURES FOR MODELING OF GENETIC KIDNEY DISORDERS 28
Association Between TP53 Mutations and Platinum Resistance in a Cohort of High-Grade Serous Ovarian Cancer Patients: Novel Implications for Personalized Therapeutics 28
Heterogeneous Genetic Alterations Predict Resistance To Immunosuppressive Treatments In Sporadic Steroid-resistant Nephrotic Syndrome 27
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 26
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 26
Severe Obesity Associated with Severe Hyperinsulinism and T2D in a Family with Mutation in SH2B1 Gene 25
Can HbA1c combined with fasting plasma glucose help to assess priority for GCK-MODY vs HNF1A-MODY genetic testing? 24
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 24
Urine-derived Human Renal Progenitor Cultures For Modeling Of Genetic Kidney Disorders 23
Inversion Chromosomes 23
Acute kidney injury promotes development of papillary renal cell adenoma and carcinoma from renal progenitor cells 23
De novo unbalanced translocations have a complex history/aetiology 22
Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature 22
A de novo 2q interstitial deletion in a patient with a Turner phenotype 22
Targeted resequencing for analysis of gene mutations in pediatric Glioblastoma Multiforme 21
NGS e malattie renali: aspetti clinici e molecolari delle acidosi tubulari renali 21
A novel pseudoautosomal gene encoding a putative GTP-bindig protein resides in the vicinity of the Xp/Yp telomere 21
PROFILO CLINICO E MOLECOLARE DI PAZIENTI AFFETTI DA ACIDOSI TUBULARE RENALE DISTALE 20
CARATTERIZZAZIONE CLINICA, MOLECOLARE E FUNZIONALE DI SOGGETTI CON ACIDOSI TUBULARE RENALE DISTALE 20
Genomic architecture and chromosome rearrangements 20
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity 20
STUDIO CLINICO, GENETICO E MOLECOLARE DI FAMIGLIE ITALIANE AFFETTE DA MODY 20
Tre casi di disgenesia ovarica associata a delezione Xp11.4 - pter e duplicazione Xq2 - qter de novo, di origine paterna 20
Is the experience mutation of G-CSF truly a predictive indicator of trends in early myolodysplasia or leukemia? 20
High throughput sequencing in sporadic forms of steroid-resistant nephrotic syndrome in children frequently identifies heterogeneous genetic alterations that predict resistance to immunosuppressive treatments 20
New Thoughts on Pediatric Genetic Obesity: Pathogenesis, Clinical Characteristics and Treatment Approach 19
Natural killer-cell immunoglobulin-like receptors trigger differences in immune response to SARS-CoV-2 infection 19
Identification and characterization of a new human gene encoding a small protein with high homology to the proline-rich region of the SH3BGR gene 19
A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family 19
Identificazione e caratterizzazione sistematica di cDNA umani e murini omologhi a geni mutanti in Drosophila 19
Olfactory receptor gene clusters mediate common chromosome rearrangements 19
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation 19
Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication 19
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients 19
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene 19
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching 18
MICRORNAS PROFILE IN PAEDIATRIC GBMS 18
Array comparative genomic hybridisation in a foetus with thoracic ectopia cordis: a case report 18
Mosaic variegated aneuploidy: two new cases including a prenatal one 18
Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis 18
The promise and challenge of high throughput sequencing to discover genes involved in Medullary Sponge Kidney disease 18
A novel splicing variant of col2a1 in a fetus with achondrogenesis type ii: Interpretation of pathogenicity of in-frame deletions 18
Next generation sequencing in renal disorders: molecular and clinical aspects of renal tubular acidosis 18
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 18
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis 18
NEXT GENERATION SEQUENCING: IMPLICAZIONI NELLA PRATICA CLINICA E NELLA DIAGNOSI DELLA SINDROME NEFROSICA STEROIDO-RESISTENTE 18
Inverted low copy repeats and a common 8p23 inversion polymorphism 17
TOWARD THE GENETIC BASIS OF OESOPHAGEAL ATRESIA: CLINICAL AND MOLECULAR STUDY BY NEXT GENERATION SEQUENCING 17
A microRNA profile of pediatric glioblastoma: The role of NUCKS1 upregulation 17
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25 17
Structure and mutation analysis of the glycogen storage disease type 1b gene 17
Multiorgan Infiltration by CD8+ T Cells and 1p;16p Translocation in a Patient with Hypogammaglobulinemia and a Reduced Number of B Cells 17
6q24 duplication and transient neonatal diabetes: a possible differential diagnosis with Beckwith-Wiedemann syndrome? 17
Fenotipo Turner associato ad una delezione interstiziale sul braccio lungo del cromosoma 2 17
Constitutional copy number amplifications: rare or under-evaluated? Revisiting a 25-year-old cold case 17
Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome? 17
Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype 17
Human leukocyte antigen-G in hepatocellular carcinoma driven by chronic viral hepatitis or steatotic liver disease 17
Translocation (8;16) in a patient with acute myelomonocytic leukemia, occurring after treatment with fludarabine for a low-grade non-Hodgkin's lymphoma 17
8.5 Mb deletion at distal 5p in a male ascertained for azoospermia 17
High throughput sequencing in sporadic forms of steroid-resistant nephrotic syndrome: heterogeneous genetic alterations can predict resistance to treatments 17
Targeted sequencing experiments for rare disease alleles: implications in clinical practice and diagnosis of steroid-resistant nephrotic syndrome 16
MOLECULAR CHARACTERIZATION OF PEDIATRIC GLIONEURONAL TUMOR WITH NEUROPIL-LIKE ISLANDS: A GENOME-WIDE COPY NUMBER ANALYSIS 16
A novel stop codon variant affecting ΔNp63 isoforms associated with non-syndromic limb-mammary phenotype and uterine cervix dysplasia 16
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 16
Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardation 16
Urine-derived human renal progenitor cultures for modeling of genetic kidney disorders in subject studied by Next Generation Sequencing 16
A Protective HLA Extended Haplotype Outweighs the Major COVID-19 Risk Factor Inherited From Neanderthals in the Sardinian Population 16
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes 16
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes 15
Assignment of NUFIP1 (Nuclear FMRP Interacting Protein 1) gene to chromosome and assignment of a pseudogene to chromosome 6q12 15
Reply-MSK and dRTA: a puzzling association 15
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study 15
Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2 15
Y-chromosome microdeletions are not associated with SHOX haploinsufficiency 15
Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes 15
Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome 15
Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome 15
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report 15
Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity 15
Diagnostic implications of genetic copy number variation in epilepsy plus 14
Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotype 14
Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q 14
STOP Pain Project—Opioid Response in Pediatric Cancer Patients and Gene Polymorphisms of Cytokine Pathways 14
The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies 14
Un bambino con severo ritardo di crescita e cisti renali = A child with severe growth delay and renal cysts 14
Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia 14
Ruxolitinib is an effective treatment for CALR-positive patients with myelofibrosis 14
Reciprocal translocations: a trap for cytogenetists? 14
Risk and Association of Specific HLA Alleles With Nintedanib-Induced Gastrointestinal Adverse Reactions: A Discovery Study in an Italian Population 14
Reverse phenotyping after whole-Exome sequencing in steroid-resistant nephrotic syndrome 14
Human urine-derived renal progenitors for personalized modeling of genetic kidney disorders 14
GCMB, a second human homolog of the fly glide/gcm gene 14
Totale 2.062
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Categoria #
all - tutte 24.083
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 24.083
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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
2026/2027538 153 385 0 0 0 0 0 0 0 0 0 0
Totale 3.004