GIGLIO, SABRINA RITA
 Distribuzione geografica
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Continente #
NA - Nord America 13.642
EU - Europa 9.131
AS - Asia 4.699
SA - Sud America 671
Continente sconosciuto - Info sul continente non disponibili 280
AF - Africa 114
OC - Oceania 74
Totale 28.611
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Nazione #
US - Stati Uniti d'America 13.403
RU - Federazione Russa 2.530
IT - Italia 2.003
PL - Polonia 1.888
SG - Singapore 1.378
CN - Cina 1.053
HK - Hong Kong 725
IE - Irlanda 648
BR - Brasile 548
VN - Vietnam 529
SE - Svezia 501
DE - Germania 406
KR - Corea 357
FI - Finlandia 305
FR - Francia 241
UA - Ucraina 204
CA - Canada 155
GB - Regno Unito 143
IN - India 134
BD - Bangladesh 118
CH - Svizzera 88
AU - Australia 74
JO - Giordania 74
JP - Giappone 61
ID - Indonesia 50
AR - Argentina 46
ES - Italia 46
IQ - Iraq 43
NL - Olanda 42
MX - Messico 35
TR - Turchia 35
CI - Costa d'Avorio 33
BE - Belgio 20
EC - Ecuador 20
PK - Pakistan 19
ZA - Sudafrica 19
CO - Colombia 18
AT - Austria 15
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
TH - Thailandia 10
NP - Nepal 9
UY - Uruguay 9
CR - Costa Rica 8
CZ - Repubblica Ceca 8
GR - Grecia 8
KE - Kenya 8
PH - Filippine 8
TN - Tunisia 8
GT - Guatemala 7
IR - Iran 7
JM - Giamaica 7
DZ - Algeria 6
EG - Egitto 6
LK - Sri Lanka 6
IL - Israele 5
MY - Malesia 5
OM - Oman 5
PY - Paraguay 5
RO - Romania 5
TT - Trinidad e Tobago 5
AE - Emirati Arabi Uniti 4
HN - Honduras 4
LB - Libano 4
LT - Lituania 4
NI - Nicaragua 4
PA - Panama 4
QA - Qatar 4
AL - Albania 3
AO - Angola 3
KZ - Kazakistan 3
SV - El Salvador 3
AM - Armenia 2
BH - Bahrain 2
BY - Bielorussia 2
DO - Repubblica Dominicana 2
GE - Georgia 2
HR - Croazia 2
HU - Ungheria 2
KH - Cambogia 2
KW - Kuwait 2
LU - Lussemburgo 2
MN - Mongolia 2
MT - Malta 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
BO - Bolivia 1
CG - Congo 1
Totale 28.321
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Città #
Santa Clara 2.216
Warsaw 1.886
Ashburn 1.679
Fairfield 1.169
Singapore 945
Dublin 646
Chandler 615
Hong Kong 581
Woodbridge 581
San Jose 546
Seattle 497
Houston 433
Cambridge 404
Wilmington 367
Milan 353
Seoul 353
Beijing 295
Jacksonville 248
Altamura 240
Lawrence 240
Council Bluffs 237
Florence 232
Ann Arbor 225
Princeton 207
Buffalo 177
Munich 174
Los Angeles 166
Dallas 162
The Dalles 153
Ho Chi Minh City 149
Lauterbourg 140
Rome 139
Helsinki 134
Boston 126
Hanoi 113
Boardman 108
Moscow 93
New York 85
San Diego 84
Bern 83
Shanghai 82
Mumbai 77
Bremen 74
Melbourne 71
Hefei 68
Clifton 66
Medford 65
Phoenix 58
Tokyo 57
São Paulo 55
Dong Ket 45
Toronto 44
Paris 43
Chicago 41
Falls Church 41
Redondo Beach 40
Norwalk 37
Jakarta 36
Turin 36
Naples 35
Kent 34
Abidjan 33
Turku 32
Bologna 31
London 27
Barcelona 26
Da Nang 25
Palermo 24
Andover 23
Tianjin 23
Columbus 22
Guangzhou 22
Atlanta 21
Dearborn 21
Figino 21
Frankfurt am Main 21
Miano 20
Rio de Janeiro 20
Montreal 19
Genoa 18
Orem 18
Bari 17
Brussels 17
Denver 17
Izmir 16
Verona 16
Yubileyny 16
Baghdad 15
Hillsboro 15
Manchester 15
Brooklyn 14
Chennai 14
Hải Dương 14
Vienna 14
Brescia 13
Catania 13
Haiphong 13
Shenzhen 13
Amman 11
Belo Horizonte 11
Totale 19.127
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Nome #
Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia 394
Acute kidney injury promotes development of papillary renal cell adenoma and carcinoma from renal progenitor cells. 374
SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome 352
Determinants of vitamin D levels in children and adolescents with Down syndrome. 318
Diabetes mellitus in a girl with thyroid hormone resistance syndrome: A little recognized interaction between the two diseases 316
Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome. 312
SLMSuite: a suite of algorithms for segmenting genomic profiles 298
Molecular mechanisms generating and stabilizing terminal 22q13Deletions in 44 subjects with Phelan/McDermid Syndrome 282
Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis 281
Y-chromosome microdeletions are not associated with SHOX haploinsufficiency. 277
Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes. 273
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 270
Bone mineral status and metabolism in patients with Williams-Beuren syndrome. 270
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report. 267
De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s. 266
Bone mineral status in children and adolescents with klinefelter syndrome 262
Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype 258
PROFILO CLINICO E MOLECOLARE DI PAZIENTI AFFETTI DA ACIDOSI TUBULARE RENALE DISTALE 252
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 251
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin remodeling genes 246
Reverse phenotyping after whole-Exome sequencing in steroid-resistant nephrotic syndrome 246
A microRNA profile of pediatric glioblastoma: The role of NUCKS1 upregulation 239
Case report of an atypical early onset X-linked retinoschisis in monozygotic twins 239
New Thoughts on Pediatric Genetic Obesity: Pathogenesis, Clinical Characteristics and Treatment Approach 236
Genome-wide copy number analysis in pediatric glioblastoma multiforme. 235
NEXT GENERATION SEQUENCING: IMPLICAZIONI NELLA PRATICA CLINICA E NELLA DIAGNOSI DELLA SINDROME NEFROSICA STEROIDO-RESISTENTE 232
NGS e malattie renali: aspetti clinici e molecolari delle acidosi tubulari renali 232
Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis. 232
Prevalence and prenatal ultrasound detection of clubfoot in a non-selected population: an analysis of 549 931 births in Tuscany. 231
Michelangelo’s David: triumph of perfection or perfect combination of variation and disproportions? A human perspective. 231
8.5 Mb deletion at distal 5p in a male ascertained for azoospermia. 224
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. 216
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis 213
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 213
De novo unbalanced translocations have a complex history/aetiology 213
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients. 208
GENE-03. MICRORNAS PROFILE IN PAEDIATRIC GBMS 203
Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations 202
Expression of β-adrenergic receptors in pediatric malignant brain tumors. 200
A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family 199
Brain tumors in Li-Fraumeni syndrome: a commentary and a case of a gliosarcoma patient 197
Human urine-derived renal progenitors for personalized modeling of genetic kidney disorders 197
Molecular characterization of paediatric glioneuronal tumours with neuropil-like islands: a genome-wide copy number analysis. 195
Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature 194
Can HbA1c combined with fasting plasma glucose help to assess priority for GCK-MODY vs HNF1A-MODY genetic testing? 192
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25. 191
Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes 191
Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation 191
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 191
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases 190
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH 190
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity 189
SMARCA4 inactivating mutations cause concomitant Coffin–Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type 189
Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression 189
Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication 188
Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos. 186
Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome? 186
Cross-sectional study shows that impaired bone mineral status and metabolism are found in non mosaic triple X syndrome 186
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes. 184
Fenotipo Turner associato ad una delezione interstiziale sul braccio lungo del cromosoma 2 183
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 182
GCMB, a second human homolog of the fly glide/gcm gene 181
A DNA resequencing array for genes involved in MODY/Type 2 Diabetes: a new era in clinical and molecular diagnosis 181
High throughput sequencing in sporadic forms of steroid-resistant nephrotic syndrome in children frequently identifies heterogeneous genetic alterations that predict resistance to immunosuppressive treatments 179
Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene 179
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies 179
Combined deletions of GALNS and PIEZO1 genes in two patients affected by MorquioA syndrome 179
Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian pediatric diabetes centers during 2007 to 2012 179
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. 178
Diabetes mellitus in a girl with thyroid hormone resistance syndrome: a little recognized interaction between the two diseases 177
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? 176
A de novo 2q interstitial deletion in a patient with a Turner phenotype 176
Diagnostic implications of genetic copy number variation in epilepsy plus. 176
A novel pseudoautosomal gene encoding a putative GTP-bindig protein resides in the vicinity of the Xp/Yp telomere 174
LA NUOVA ERA NELLA DIAGNOSI CLINICO-GENETICA DEL DIABETE MONOFATTORIALE E DIABETE TIPO 2: SCREENING MEDIANTE NEXT GENERATION SEQUENCING 171
Transient hyperoxaluria in a patient with inherited distal renal tubular acidosis 166
Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions 166
Noninvasive Prenatal Diagnosis in a Family at Risk for Fraser Syndrome 164
Prenatal diagnosis of X-linked adrenoleukodystrophy associated with isolated pericardial effusion 164
Structure and mutation analysis of the glycogen storage disease type 1b gene. 163
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 162
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity 158
Disseminated Mycobacterium xenopi in an Adult with IL-12Rβ1 Deficiency 158
MYOCLONIC ASTATIC EPILEPSY IN A PATIENT WITH A DE NOVO 4q21.22q21.23 MICRODUPLICATION 157
Reply: Y-chromosome microdeletions are not associated with SHOX haploinsufficiency 157
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. 155
Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritis 155
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. 154
[A child with severe growth delay and renal cysts] 154
Transmission of a fully functional human neocentromere through three generations 153
Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter 151
Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects. 151
Heterogeneous Genetic Alterations Predict Resistance To Immunosuppressive Treatments In Sporadic Steroid-resistant Nephrotic Syndrome. 151
CARATTERIZZAZIONE CLINICA, MOLECOLARE E FUNZIONALE DI SOGGETTI CON ACIDOSI TUBULARE RENALE DISTALE 150
New syndrome of mental retardation, Robin sequence, and brachydactyly 147
Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q. 147
MOLECULAR CHARACTERIZATION OF PEDIATRIC GLIONEURONAL TUMOR WITH NEUROPIL-LIKE ISLANDS: A GENOME-WIDE COPY NUMBER ANALYSIS 147
Severe Obesity Associated with Severe Hyperinsulinism and T2D in a Family with Mutation in SH2B1 Gene 145
Leigh-like neuroimaging features associated with new biallelic mutations in OPA1 144
Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia. 144
Totale 20.592
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Categoria #
all - tutte 80.473
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 80.473
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.031 0 0 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
2026/20271.163 248 304 611 0 0 0 0 0 0 0 0 0
Totale 28.611