GIGLIO, SABRINA RITA
 Distribuzione geografica
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Continente #
NA - Nord America 12.858
EU - Europa 9.054
AS - Asia 4.666
SA - Sud America 651
Continente sconosciuto - Info sul continente non disponibili 279
AF - Africa 113
OC - Oceania 72
Totale 27.693
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Nazione #
US - Stati Uniti d'America 12.647
RU - Federazione Russa 2.530
IT - Italia 1.940
PL - Polonia 1.888
SG - Singapore 1.377
CN - Cina 1.052
HK - Hong Kong 722
IE - Irlanda 648
BR - Brasile 537
VN - Vietnam 526
SE - Svezia 500
DE - Germania 402
KR - Corea 357
FI - Finlandia 305
FR - Francia 241
UA - Ucraina 204
CA - Canada 140
GB - Regno Unito 139
IN - India 133
BD - Bangladesh 109
CH - Svizzera 88
JO - Giordania 74
AU - Australia 72
JP - Giappone 57
ID - Indonesia 49
AR - Argentina 45
ES - Italia 44
IQ - Iraq 43
NL - Olanda 41
TR - Turchia 34
CI - Costa d'Avorio 33
MX - Messico 33
BE - Belgio 19
ZA - Sudafrica 19
EC - Ecuador 18
PK - Pakistan 17
AT - Austria 15
CO - Colombia 13
NG - Nigeria 12
SA - Arabia Saudita 12
UZ - Uzbekistan 12
BG - Bulgaria 11
CL - Cile 11
MA - Marocco 11
VE - Venezuela 11
AZ - Azerbaigian 10
UY - Uruguay 9
CZ - Repubblica Ceca 8
GR - Grecia 8
KE - Kenya 8
NP - Nepal 8
PH - Filippine 8
TN - Tunisia 8
IR - Iran 7
TH - Thailandia 7
CR - Costa Rica 6
DZ - Algeria 6
EG - Egitto 6
LK - Sri Lanka 6
GT - Guatemala 5
IL - Israele 5
JM - Giamaica 5
OM - Oman 5
PY - Paraguay 5
RO - Romania 5
AE - Emirati Arabi Uniti 4
LB - Libano 4
LT - Lituania 4
PA - Panama 4
QA - Qatar 4
TT - Trinidad e Tobago 4
AO - Angola 3
MY - Malesia 3
SV - El Salvador 3
AL - Albania 2
AM - Armenia 2
BH - Bahrain 2
BY - Bielorussia 2
DO - Repubblica Dominicana 2
GE - Georgia 2
HN - Honduras 2
HR - Croazia 2
HU - Ungheria 2
KH - Cambogia 2
KW - Kuwait 2
KZ - Kazakistan 2
LU - Lussemburgo 2
MN - Mongolia 2
MT - Malta 2
NI - Nicaragua 2
PE - Perù 2
PR - Porto Rico 2
SC - Seychelles 2
SN - Senegal 2
TW - Taiwan 2
BB - Barbados 1
BJ - Benin 1
BM - Bermuda 1
ET - Etiopia 1
EU - Europa 1
Totale 27.406
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Città #
Santa Clara 2.199
Warsaw 1.886
Ashburn 1.571
Fairfield 1.168
Singapore 944
Dublin 646
Chandler 614
Woodbridge 581
Hong Kong 578
Seattle 494
Houston 428
Cambridge 403
San Jose 373
Wilmington 367
Seoul 353
Milan 331
Beijing 295
Jacksonville 247
Altamura 240
Lawrence 240
Ann Arbor 225
Florence 213
Princeton 207
Buffalo 176
Munich 174
Los Angeles 163
Dallas 155
The Dalles 152
Ho Chi Minh City 148
Lauterbourg 140
Rome 136
Helsinki 134
Boston 126
Hanoi 112
Boardman 108
Council Bluffs 103
Moscow 93
Bern 83
Shanghai 82
San Diego 81
Mumbai 77
New York 77
Bremen 74
Melbourne 70
Hefei 68
Clifton 66
Medford 65
São Paulo 55
Tokyo 53
Dong Ket 45
Paris 43
Falls Church 41
Redondo Beach 40
Toronto 38
Norwalk 37
Jakarta 36
Turin 35
Kent 34
Naples 34
Abidjan 33
Chicago 32
Turku 32
Bologna 30
Phoenix 30
London 27
Barcelona 26
Da Nang 25
Palermo 24
Andover 23
Tianjin 23
Guangzhou 22
Frankfurt am Main 21
Dearborn 20
Miano 20
Rio de Janeiro 20
Atlanta 19
Montreal 19
Genoa 18
Orem 18
Brussels 17
Figino 17
Bari 16
Izmir 16
Verona 16
Yubileyny 16
Baghdad 15
Hillsboro 15
Manchester 15
Chennai 14
Denver 14
Hải Dương 14
Vienna 14
Brescia 13
Haiphong 13
Shenzhen 13
Brooklyn 12
Catania 12
Amman 11
Belo Horizonte 11
Elk Grove Village 11
Totale 18.534
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Nome #
Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia 389
Acute kidney injury promotes development of papillary renal cell adenoma and carcinoma from renal progenitor cells. 356
SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome 330
Determinants of vitamin D levels in children and adolescents with Down syndrome. 314
Diabetes mellitus in a girl with thyroid hormone resistance syndrome: A little recognized interaction between the two diseases 314
Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome. 311
SLMSuite: a suite of algorithms for segmenting genomic profiles 294
Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis 280
Molecular mechanisms generating and stabilizing terminal 22q13Deletions in 44 subjects with Phelan/McDermid Syndrome 278
Y-chromosome microdeletions are not associated with SHOX haploinsufficiency. 271
Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes. 269
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 267
Bone mineral status and metabolism in patients with Williams-Beuren syndrome. 265
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report. 264
De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s. 263
Bone mineral status in children and adolescents with klinefelter syndrome 259
Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype 253
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 250
Reverse phenotyping after whole-Exome sequencing in steroid-resistant nephrotic syndrome 241
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin remodeling genes 240
PROFILO CLINICO E MOLECOLARE DI PAZIENTI AFFETTI DA ACIDOSI TUBULARE RENALE DISTALE 239
New Thoughts on Pediatric Genetic Obesity: Pathogenesis, Clinical Characteristics and Treatment Approach 235
A microRNA profile of pediatric glioblastoma: The role of NUCKS1 upregulation 234
Case report of an atypical early onset X-linked retinoschisis in monozygotic twins 233
Genome-wide copy number analysis in pediatric glioblastoma multiforme. 230
NGS e malattie renali: aspetti clinici e molecolari delle acidosi tubulari renali 228
Prevalence and prenatal ultrasound detection of clubfoot in a non-selected population: an analysis of 549 931 births in Tuscany. 227
Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis. 227
Michelangelo’s David: triumph of perfection or perfect combination of variation and disproportions? A human perspective. 225
8.5 Mb deletion at distal 5p in a male ascertained for azoospermia. 215
NEXT GENERATION SEQUENCING: IMPLICAZIONI NELLA PRATICA CLINICA E NELLA DIAGNOSI DELLA SINDROME NEFROSICA STEROIDO-RESISTENTE 210
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis 210
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 210
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. 209
De novo unbalanced translocations have a complex history/aetiology 209
GENE-03. MICRORNAS PROFILE IN PAEDIATRIC GBMS 202
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients. 199
Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations 199
Expression of β-adrenergic receptors in pediatric malignant brain tumors. 195
Brain tumors in Li-Fraumeni syndrome: a commentary and a case of a gliosarcoma patient 193
A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family 192
Human urine-derived renal progenitors for personalized modeling of genetic kidney disorders 191
Molecular characterization of paediatric glioneuronal tumours with neuropil-like islands: a genome-wide copy number analysis. 189
Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation 189
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases 188
Can HbA1c combined with fasting plasma glucose help to assess priority for GCK-MODY vs HNF1A-MODY genetic testing? 188
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH 188
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25. 187
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity 186
Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression 186
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 186
SMARCA4 inactivating mutations cause concomitant Coffin–Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type 185
Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication 184
Cross-sectional study shows that impaired bone mineral status and metabolism are found in non mosaic triple X syndrome 184
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes. 183
Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes 183
Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome? 183
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 181
Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos. 180
Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian pediatric diabetes centers during 2007 to 2012 178
A DNA resequencing array for genes involved in MODY/Type 2 Diabetes: a new era in clinical and molecular diagnosis 177
Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene 176
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. 176
Combined deletions of GALNS and PIEZO1 genes in two patients affected by MorquioA syndrome 176
GCMB, a second human homolog of the fly glide/gcm gene 175
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies 175
Diagnostic implications of genetic copy number variation in epilepsy plus. 174
Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes? 173
Diabetes mellitus in a girl with thyroid hormone resistance syndrome: a little recognized interaction between the two diseases 173
A de novo 2q interstitial deletion in a patient with a Turner phenotype 169
LA NUOVA ERA NELLA DIAGNOSI CLINICO-GENETICA DEL DIABETE MONOFATTORIALE E DIABETE TIPO 2: SCREENING MEDIANTE NEXT GENERATION SEQUENCING 166
A novel pseudoautosomal gene encoding a putative GTP-bindig protein resides in the vicinity of the Xp/Yp telomere 165
Transient hyperoxaluria in a patient with inherited distal renal tubular acidosis 164
Fenotipo Turner associato ad una delezione interstiziale sul braccio lungo del cromosoma 2 164
Prenatal diagnosis of X-linked adrenoleukodystrophy associated with isolated pericardial effusion 164
Noninvasive Prenatal Diagnosis in a Family at Risk for Fraser Syndrome 162
High throughput sequencing in sporadic forms of steroid-resistant nephrotic syndrome in children frequently identifies heterogeneous genetic alterations that predict resistance to immunosuppressive treatments 160
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 160
Structure and mutation analysis of the glycogen storage disease type 1b gene. 159
Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions 158
Disseminated Mycobacterium xenopi in an Adult with IL-12Rβ1 Deficiency 156
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity 154
Reply: Y-chromosome microdeletions are not associated with SHOX haploinsufficiency 154
[A child with severe growth delay and renal cysts] 152
Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritis 152
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. 151
MYOCLONIC ASTATIC EPILEPSY IN A PATIENT WITH A DE NOVO 4q21.22q21.23 MICRODUPLICATION 150
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. 148
Heterogeneous Genetic Alterations Predict Resistance To Immunosuppressive Treatments In Sporadic Steroid-resistant Nephrotic Syndrome. 147
Transmission of a fully functional human neocentromere through three generations 146
Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter 143
Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects. 143
Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q. 142
MOLECULAR CHARACTERIZATION OF PEDIATRIC GLIONEURONAL TUMOR WITH NEUROPIL-LIKE ISLANDS: A GENOME-WIDE COPY NUMBER ANALYSIS 142
New syndrome of mental retardation, Robin sequence, and brachydactyly 141
Severe Obesity Associated with Severe Hyperinsulinism and T2D in a Family with Mutation in SH2B1 Gene 141
Leigh-like neuroimaging features associated with new biallelic mutations in OPA1 140
Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardation. 140
Identification and characterization of a new candidate gene for steroid resistant nephrotic syndrome 139
The promise and challenge of high throughput sequencing to discover genes involved in Medullary Sponge Kidney disease 138
Totale 20.033
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Categoria #
all - tutte 77.258
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 77.258
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.156 33 92 93 57 42 91 53 74 60 55 196 310
2022/20233.111 329 625 114 270 228 526 391 156 266 18 84 104
2023/2024993 48 140 177 58 59 98 49 191 32 50 59 32
2024/20256.882 279 747 442 1.071 2.050 741 165 349 440 172 258 168
2025/20267.658 749 947 471 558 820 310 1.017 426 569 494 217 1.080
2026/2027245 245 0 0 0 0 0 0 0 0 0 0 0
Totale 27.693