GIGLIO, SABRINA RITA
 Distribuzione geografica
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Continente #
NA - Nord America 12.508
EU - Europa 8.136
AS - Asia 4.626
SA - Sud America 643
AF - Africa 111
OC - Oceania 72
Continente sconosciuto - Info sul continente non disponibili 2
Totale 26.098
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Nazione #
US - Stati Uniti d'America 12.380
RU - Federazione Russa 2.530
PL - Polonia 1.888
SG - Singapore 1.371
CN - Cina 1.045
IT - Italia 1.026
HK - Hong Kong 722
IE - Irlanda 648
BR - Brasile 533
VN - Vietnam 525
SE - Svezia 500
DE - Germania 402
KR - Corea 357
FI - Finlandia 305
FR - Francia 241
UA - Ucraina 204
GB - Regno Unito 139
IN - India 133
CH - Svizzera 88
BD - Bangladesh 83
JO - Giordania 74
AU - Australia 72
CA - Canada 71
JP - Giappone 57
ID - Indonesia 49
AR - Argentina 44
ES - Italia 43
IQ - Iraq 43
NL - Olanda 40
TR - Turchia 34
CI - Costa d'Avorio 33
MX - Messico 33
ZA - Sudafrica 19
BE - Belgio 18
EC - Ecuador 17
PK - Pakistan 17
AT - Austria 15
NG - Nigeria 12
SA - Arabia Saudita 12
UZ - Uzbekistan 12
BG - Bulgaria 11
CL - Cile 11
CO - Colombia 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
DZ - Algeria 6
EG - Egitto 6
LK - Sri Lanka 6
IL - Israele 5
OM - Oman 5
PY - Paraguay 5
RO - Romania 5
AE - Emirati Arabi Uniti 4
JM - Giamaica 4
LB - Libano 4
LT - Lituania 4
PA - Panama 4
QA - Qatar 4
AO - Angola 3
CR - Costa Rica 3
GT - Guatemala 3
MY - Malesia 3
TT - Trinidad e Tobago 3
AL - Albania 2
AM - Armenia 2
BH - Bahrain 2
BY - Bielorussia 2
DO - Repubblica Dominicana 2
GE - Georgia 2
HR - Croazia 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
SN - Senegal 2
TW - Taiwan 2
BB - Barbados 1
BJ - Benin 1
ET - Etiopia 1
EU - Europa 1
HN - Honduras 1
HU - Ungheria 1
KG - Kirghizistan 1
LY - Libia 1
MK - Macedonia 1
MM - Myanmar 1
Totale 26.092
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Città #
Santa Clara 2.180
Warsaw 1.886
Ashburn 1.468
Fairfield 1.168
Singapore 942
Dublin 646
Chandler 614
Woodbridge 581
Hong Kong 578
Seattle 494
Houston 428
Cambridge 403
Wilmington 366
San Jose 365
Seoul 353
Beijing 292
Jacksonville 245
Altamura 240
Lawrence 240
Ann Arbor 225
Princeton 207
Florence 186
Buffalo 175
Munich 174
Dallas 153
The Dalles 152
Los Angeles 151
Ho Chi Minh City 148
Lauterbourg 140
Helsinki 134
Boston 126
Hanoi 111
Boardman 104
Council Bluffs 103
Moscow 93
Bern 83
San Diego 81
Shanghai 81
Mumbai 77
New York 75
Bremen 74
Melbourne 70
Hefei 68
Clifton 66
Medford 65
São Paulo 55
Tokyo 53
Milan 50
Dong Ket 45
Paris 43
Falls Church 41
Rome 41
Redondo Beach 40
Jakarta 36
Norwalk 36
Kent 34
Abidjan 33
Chicago 32
Turku 32
Phoenix 28
Barcelona 26
Toronto 26
Da Nang 25
London 25
Andover 23
Tianjin 23
Guangzhou 22
Frankfurt am Main 21
Dearborn 20
Rio de Janeiro 20
Orem 18
Brussels 17
Izmir 16
Yubileyny 16
Baghdad 15
Hillsboro 15
Manchester 15
Atlanta 14
Chennai 14
Hải Dương 14
Vienna 14
Denver 13
Haiphong 13
Shenzhen 13
Turin 12
Amman 11
Belo Horizonte 11
Brooklyn 11
Elk Grove Village 11
Montreal 11
Sofia 11
Stockholm 11
Abuja 10
Amsterdam 10
Poplar 10
Pune 10
Tappahannock 10
Tashkent 10
Auburn Hills 9
Baku 9
Totale 17.815
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Nome #
Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia 375
SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome 325
Acute kidney injury promotes development of papillary renal cell adenoma and carcinoma from renal progenitor cells. 325
Determinants of vitamin D levels in children and adolescents with Down syndrome. 309
Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome. 302
Diabetes mellitus in a girl with thyroid hormone resistance syndrome: A little recognized interaction between the two diseases 301
SLMSuite: a suite of algorithms for segmenting genomic profiles 286
Molecular mechanisms generating and stabilizing terminal 22q13Deletions in 44 subjects with Phelan/McDermid Syndrome 262
Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis 262
Y-chromosome microdeletions are not associated with SHOX haploinsufficiency. 261
Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes. 260
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report. 259
De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s. 254
Bone mineral status and metabolism in patients with Williams-Beuren syndrome. 254
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 251
Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype 251
Bone mineral status in children and adolescents with klinefelter syndrome 247
A microRNA profile of pediatric glioblastoma: The role of NUCKS1 upregulation 233
Reverse phenotyping after whole-Exome sequencing in steroid-resistant nephrotic syndrome 232
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin remodeling genes 230
PROFILO CLINICO E MOLECOLARE DI PAZIENTI AFFETTI DA ACIDOSI TUBULARE RENALE DISTALE 229
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 229
Case report of an atypical early onset X-linked retinoschisis in monozygotic twins 223
Genome-wide copy number analysis in pediatric glioblastoma multiforme. 221
Prevalence and prenatal ultrasound detection of clubfoot in a non-selected population: an analysis of 549 931 births in Tuscany. 219
New Thoughts on Pediatric Genetic Obesity: Pathogenesis, Clinical Characteristics and Treatment Approach 218
Michelangelo’s David: triumph of perfection or perfect combination of variation and disproportions? A human perspective. 212
NGS e malattie renali: aspetti clinici e molecolari delle acidosi tubulari renali 210
8.5 Mb deletion at distal 5p in a male ascertained for azoospermia. 210
Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis. 209
De novo unbalanced translocations have a complex history/aetiology 206
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis 203
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 201
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. 198
GENE-03. MICRORNAS PROFILE IN PAEDIATRIC GBMS 193
NEXT GENERATION SEQUENCING: IMPLICAZIONI NELLA PRATICA CLINICA E NELLA DIAGNOSI DELLA SINDROME NEFROSICA STEROIDO-RESISTENTE 191
Brain tumors in Li-Fraumeni syndrome: a commentary and a case of a gliosarcoma patient 189
Expression of β-adrenergic receptors in pediatric malignant brain tumors. 188
Human urine-derived renal progenitors for personalized modeling of genetic kidney disorders 188
Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations 187
Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation 186
A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family 186
Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression 185
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25. 184
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases 184
SMARCA4 inactivating mutations cause concomitant Coffin–Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type 184
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients. 184
Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes 183
Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication 181
Can HbA1c combined with fasting plasma glucose help to assess priority for GCK-MODY vs HNF1A-MODY genetic testing? 181
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH 181
Molecular characterization of paediatric glioneuronal tumours with neuropil-like islands: a genome-wide copy number analysis. 180
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 177
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes. 177
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 177
Cross-sectional study shows that impaired bone mineral status and metabolism are found in non mosaic triple X syndrome 177
Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian pediatric diabetes centers during 2007 to 2012 176
Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos. 175
Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome? 175
A DNA resequencing array for genes involved in MODY/Type 2 Diabetes: a new era in clinical and molecular diagnosis 174
Combined deletions of GALNS and PIEZO1 genes in two patients affected by MorquioA syndrome 173
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity 172
Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene 172
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies 172
Diagnostic implications of genetic copy number variation in epilepsy plus. 169
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? 166
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. 166
Diabetes mellitus in a girl with thyroid hormone resistance syndrome: a little recognized interaction between the two diseases 165
A de novo 2q interstitial deletion in a patient with a Turner phenotype 164
A novel pseudoautosomal gene encoding a putative GTP-bindig protein resides in the vicinity of the Xp/Yp telomere 162
LA NUOVA ERA NELLA DIAGNOSI CLINICO-GENETICA DEL DIABETE MONOFATTORIALE E DIABETE TIPO 2: SCREENING MEDIANTE NEXT GENERATION SEQUENCING 161
GCMB, a second human homolog of the fly glide/gcm gene 157
Fenotipo Turner associato ad una delezione interstiziale sul braccio lungo del cromosoma 2 157
Noninvasive Prenatal Diagnosis in a Family at Risk for Fraser Syndrome 157
Prenatal diagnosis of X-linked adrenoleukodystrophy associated with isolated pericardial effusion 157
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 157
Transient hyperoxaluria in a patient with inherited distal renal tubular acidosis 153
High throughput sequencing in sporadic forms of steroid-resistant nephrotic syndrome in children frequently identifies heterogeneous genetic alterations that predict resistance to immunosuppressive treatments 153
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity 152
Disseminated Mycobacterium xenopi in an Adult with IL-12Rβ1 Deficiency 149
Reply: Y-chromosome microdeletions are not associated with SHOX haploinsufficiency 149
[A child with severe growth delay and renal cysts] 148
MYOCLONIC ASTATIC EPILEPSY IN A PATIENT WITH A DE NOVO 4q21.22q21.23 MICRODUPLICATION 148
Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritis 146
Heterogeneous Genetic Alterations Predict Resistance To Immunosuppressive Treatments In Sporadic Steroid-resistant Nephrotic Syndrome. 144
Structure and mutation analysis of the glycogen storage disease type 1b gene. 143
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. 142
Leigh-like neuroimaging features associated with new biallelic mutations in OPA1 138
Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects. 138
Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q. 137
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. 137
Severe Obesity Associated with Severe Hyperinsulinism and T2D in a Family with Mutation in SH2B1 Gene 137
Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions 136
The promise and challenge of high throughput sequencing to discover genes involved in Medullary Sponge Kidney disease 133
Clinical correlates in children with autism spectrum disorder and CNVs: systematic investigation in a clinical setting. 133
New syndrome of mental retardation, Robin sequence, and brachydactyly 132
Transmission of a fully functional human neocentromere through three generations 132
Identification and characterization of a new candidate gene for steroid resistant nephrotic syndrome 131
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. 130
Inverted duplications: how many of them are mosaic? 129
Totale 19.207
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Categoria #
all - tutte 73.207
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 73.207
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021137 0 0 0 0 0 0 0 0 0 0 0 137
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
2025/20266.585 749 947 471 558 820 310 1.017 426 569 494 217 7
Totale 26.375