IRIS
GIGLIO, SABRINA RITA
 Distribuzione geografica
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Continente #
EU - Europa 1.342
AS - Asia 532
NA - Nord America 333
SA - Sud America 25
AF - Africa 8
Continente sconosciuto - Info sul continente non disponibili 1
Totale 2.241
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Nazione #
RU - Federazione Russa 1.259
US - Stati Uniti d'America 307
SG - Singapore 216
CN - Cina 177
IT - Italia 40
VN - Vietnam 34
HK - Hong Kong 33
BD - Bangladesh 26
PK - Pakistan 21
BR - Brasile 17
CA - Canada 15
NL - Olanda 12
GB - Regno Unito 8
DE - Germania 7
FR - Francia 7
MX - Messico 7
IN - India 4
IQ - Iraq 4
TR - Turchia 4
KE - Kenya 3
HU - Ungheria 2
JM - Giamaica 2
JP - Giappone 2
NG - Nigeria 2
OM - Oman 2
PY - Paraguay 2
SE - Svezia 2
AR - Argentina 1
CL - Cile 1
CO - Colombia 1
CR - Costa Rica 1
CW - ???statistics.table.value.countryCode.CW??? 1
EC - Ecuador 1
ES - Italia 1
FI - Finlandia 1
HN - Honduras 1
ID - Indonesia 1
IE - Irlanda 1
JO - Giordania 1
KZ - Kazakistan 1
MA - Marocco 1
MY - Malesia 1
NP - Nepal 1
PH - Filippine 1
PL - Polonia 1
PS - Palestinian Territory 1
SA - Arabia Saudita 1
SR - Suriname 1
TZ - Tanzania 1
UA - Ucraina 1
UZ - Uzbekistan 1
VE - Venezuela 1
ZA - Sudafrica 1
Totale 2.241
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Città #
Moscow 279
Council Bluffs 184
Singapore 63
Hong Kong 31
Beijing 30
Islamabad 20
San Jose 17
Dallas 15
Ashburn 14
Santa Clara 12
Ho Chi Minh City 9
Hanoi 7
Barnet 4
Brooklyn 4
Da Nang 4
Los Angeles 4
Mexico City 4
Milan 4
Nuremberg 4
Paris 3
San Francisco 3
Toronto 3
Abuja 2
Amsterdam 2
Ankara 2
Buffalo 2
Denver 2
Frankfurt am Main 2
Haiphong 2
Hone 2
Houston 2
Lauterbourg 2
London 2
Monterrey 2
Muscat 2
Nairobi 2
Pécs 2
Riardo 2
San Antonio 2
The Dalles 2
Verona 2
Xiamen 2
Abbotsford British Columbia 1
Ahmedabad 1
Alajuela 1
Amman 1
Anápolis 1
Araraquara 1
Asunción 1
Augusta 1
Basra 1
Bedford 1
Calgary 1
Calhoun City 1
Can Tho 1
Capão da Canoa 1
Caroní 1
Cascina 1
Catalão 1
Central Islip 1
Chapecó 1
Chennai 1
Chicago 1
Chicoutimi 1
Cidreira 1
Clinton 1
Corner Brook 1
Dammam 1
Dar es Salaam 1
Dublin 1
East Brunswick 1
Ennismore 1
Farmington Hills 1
Florence 1
Flushing 1
Ft Saskatchewan 1
Gabriola 1
Gibsonia 1
Gorgo al Monticano 1
Hartsville 1
Hefei 1
Helena 1
Higashiosaka 1
Huntington 1
Istanbul 1
Itaquaquecetuba 1
Jaipur 1
Jakarta 1
Kathmandu 1
Katy 1
Kharkiv 1
Kirkuk 1
Kostanay 1
Lahore 1
Laval 1
Lawrence 1
Lehigh Acres 1
Luque 1
Manchester 1
Mersin 1
Totale 816
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Nome #
Pregnancy outcome of confined placental mosaicism: meta-analysis of cohort studies 88
Pregnancy Outcome of Confined Placental Mosaicism: Meta-analysis of Cohort Studies 68
Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains 45
Heterogeneous Genetic Alterations Predict Resistance To Immunosuppressive Treatments In Sporadic Steroid-resistant Nephrotic Syndrome 25
URINE-DERIVED HUMAN RENAL PROGENITOR CULTURES FOR MODELING OF GENETIC KIDNEY DISORDERS 24
Association Between TP53 Mutations and Platinum Resistance in a Cohort of High-Grade Serous Ovarian Cancer Patients: Novel Implications for Personalized Therapeutics 24
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 23
Urine-derived Human Renal Progenitor Cultures For Modeling Of Genetic Kidney Disorders 22
HOMOZYGOUS DELETION IN STXBP2 CAUSATIVE OF FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS TYPE 5 (FHL-5) 22
NGS e malattie renali: aspetti clinici e molecolari delle acidosi tubulari renali 20
Can HbA1c combined with fasting plasma glucose help to assess priority for GCK-MODY vs HNF1A-MODY genetic testing? 20
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 20
CARATTERIZZAZIONE CLINICA, MOLECOLARE E FUNZIONALE DI SOGGETTI CON ACIDOSI TUBULARE RENALE DISTALE 19
NEXT GENERATION SEQUENCING: IMPLICATIONS IN CLINICAL PRACTICE AND DIAGNOSIS OF STEROID-RESISTANT NEPHROTIC SYNDROME 19
Genomic architecture and chromosome rearrangements 19
Inversion Chromosomes 19
Tre casi di disgenesia ovarica associata a delezione Xp11.4 - pter e duplicazione Xq2 - qter de novo, di origine paterna 19
Severe Obesity Associated with Severe Hyperinsulinism and T2D in a Family with Mutation in SH2B1 Gene 19
Is the experience mutation of G-CSF truly a predictive indicator of trends in early myolodysplasia or leukemia? 19
A de novo 2q interstitial deletion in a patient with a Turner phenotype 19
PROFILO CLINICO E MOLECOLARE DI PAZIENTI AFFETTI DA ACIDOSI TUBULARE RENALE DISTALE 18
Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature 18
Identificazione e caratterizzazione sistematica di cDNA umani e murini omologhi a geni mutanti in Drosophila 18
STUDIO CLINICO, GENETICO E MOLECOLARE DI FAMIGLIE ITALIANE AFFETTE DA MODY 18
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation 18
High throughput sequencing in sporadic forms of steroid-resistant nephrotic syndrome in children frequently identifies heterogeneous genetic alterations that predict resistance to immunosuppressive treatments 18
Targeted resequencing for analysis of gene mutations in pediatric Glioblastoma Multiforme 17
New Thoughts on Pediatric Genetic Obesity: Pathogenesis, Clinical Characteristics and Treatment Approach 17
MICRORNAS PROFILE IN PAEDIATRIC GBMS 17
Mosaic variegated aneuploidy: two new cases including a prenatal one 17
Natural killer-cell immunoglobulin-like receptors trigger differences in immune response to SARS-CoV-2 infection 17
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 17
De novo unbalanced translocations have a complex history/aetiology 17
Next generation sequencing in renal disorders: molecular and clinical aspects of renal tubular acidosis 17
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity 17
Common Long Human Inversion Polymorphism on Chromosome 8p 17
Olfactory receptor gene clusters mediate common chromosome rearrangements 17
A novel pseudoautosomal gene encoding a putative GTP-bindig protein resides in the vicinity of the Xp/Yp telomere 17
NEXT GENERATION SEQUENCING: IMPLICAZIONI NELLA PRATICA CLINICA E NELLA DIAGNOSI DELLA SINDROME NEFROSICA STEROIDO-RESISTENTE 17
Acute kidney injury promotes development of papillary renal cell adenoma and carcinoma from renal progenitor cells 17
Inverted low copy repeats and a common 8p23 inversion polymorphism 16
TOWARD THE GENETIC BASIS OF OESOPHAGEAL ATRESIA: CLINICAL AND MOLECULAR STUDY BY NEXT GENERATION SEQUENCING 16
Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis 16
The promise and challenge of high throughput sequencing to discover genes involved in Medullary Sponge Kidney disease 16
Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome? 16
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 16
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients 16
8.5 Mb deletion at distal 5p in a male ascertained for azoospermia 16
High throughput sequencing in sporadic forms of steroid-resistant nephrotic syndrome: heterogeneous genetic alterations can predict resistance to treatments 16
Targeted sequencing experiments for rare disease alleles: implications in clinical practice and diagnosis of steroid-resistant nephrotic syndrome 15
A microRNA profile of pediatric glioblastoma: The role of NUCKS1 upregulation 15
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25 15
Structure and mutation analysis of the glycogen storage disease type 1b gene 15
Multiorgan Infiltration by CD8+ T Cells and 1p;16p Translocation in a Patient with Hypogammaglobulinemia and a Reduced Number of B Cells 15
A novel splicing variant of col2a1 in a fetus with achondrogenesis type ii: Interpretation of pathogenicity of in-frame deletions 15
Fenotipo Turner associato ad una delezione interstiziale sul braccio lungo del cromosoma 2 15
Identification and characterization of a new human gene encoding a small protein with high homology to the proline-rich region of the SH3BGR gene 15
A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family 15
Translocation (8;16) in a patient with acute myelomonocytic leukemia, occurring after treatment with fludarabine for a low-grade non-Hodgkin's lymphoma 15
Urine-derived human renal progenitor cultures for modeling of genetic kidney disorders in subject studied by Next Generation Sequencing 15
Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication 15
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis 15
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching 14
MOLECULAR CHARACTERIZATION OF PEDIATRIC GLIONEURONAL TUMOR WITH NEUROPIL-LIKE ISLANDS: A GENOME-WIDE COPY NUMBER ANALYSIS 14
Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2 14
6q24 duplication and transient neonatal diabetes: a possible differential diagnosis with Beckwith-Wiedemann syndrome? 14
Constitutional copy number amplifications: rare or under-evaluated? Revisiting a 25-year-old cold case 14
Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardation 14
Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome 14
Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity 14
Assignment of NUFIP1 (Nuclear FMRP Interacting Protein 1) gene to chromosome and assignment of a pseudogene to chromosome 6q12 13
Reply-MSK and dRTA: a puzzling association 13
Identification and characterization of a new candidate gene for steroid resistant nephrotic syndrome 13
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study 13
Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotype 13
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 13
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 13
Human leukocyte antigen-G in hepatocellular carcinoma driven by chronic viral hepatitis or steatotic liver disease 13
Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome 13
Reverse phenotyping after whole-Exome sequencing in steroid-resistant nephrotic syndrome 13
Human urine-derived renal progenitors for personalized modeling of genetic kidney disorders 13
A Protective HLA Extended Haplotype Outweighs the Major COVID-19 Risk Factor Inherited From Neanderthals in the Sardinian Population 13
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report 13
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes 13
A novel stop codon variant affecting ΔNp63 isoforms associated with non-syndromic limb-mammary phenotype and uterine cervix dysplasia 12
Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis 12
Un bambino con severo ritardo di crescita e cisti renali = A child with severe growth delay and renal cysts 12
Y-chromosome microdeletions are not associated with SHOX haploinsufficiency 12
Reciprocal translocations: a trap for cytogenetists? 12
Neurological phenomenology of the IRF2BPL mutation syndrome: Analysis of a new case and systematic review of the literature 12
Noninvasive Prenatal Diagnosis in a Family at Risk for Fraser Syndrome 11
Distal renal tubular acidosis: a systematic approach from diagnosis to treatment 11
STOP Pain Project—Opioid Response in Pediatric Cancer Patients and Gene Polymorphisms of Cytokine Pathways 11
Expression of β-adrenergic receptors in pediatric malignant brain tumors 11
Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes 11
Ruxolitinib is an effective treatment for CALR-positive patients with myelofibrosis 11
Differential diagnosis between Marfan syndrome and Loeys–Dietz syndrome type 4: A novel chromosomal deletion covering tgfb2 11
Genomic organization and chromosomal localization of the mouse Connexin36 (mCx36) gene 11
The double-sided of human leukocyte antigen-G molecules in type 1 autoimmune hepatitis 11
Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes 11
Totale 1.714
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Categoria #
all - tutte 15.380
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 15.380
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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
2025/20262.442 4 4 17 28 18 4 6 19 1.781 463 39 59
Totale 2.453