GIGLIO, SABRINA RITA
 Distribuzione geografica
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Continente #
NA - Nord America 9.002
EU - Europa 6.662
AS - Asia 1.223
AF - Africa 33
SA - Sud America 5
Continente sconosciuto - Info sul continente non disponibili 1
Totale 16.926
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Nazione #
US - Stati Uniti d'America 8.981
RU - Federazione Russa 1.908
PL - Polonia 1.873
IT - Italia 923
IE - Irlanda 643
SE - Svezia 488
SG - Singapore 390
CN - Cina 309
HK - Hong Kong 287
DE - Germania 191
UA - Ucraina 191
FI - Finlandia 153
CH - Svizzera 87
IN - India 82
GB - Regno Unito 77
JO - Giordania 61
VN - Vietnam 54
FR - Francia 32
CI - Costa d'Avorio 31
ES - Italia 27
CA - Canada 19
BE - Belgio 16
TR - Turchia 16
NL - Olanda 15
AT - Austria 12
BG - Bulgaria 11
KR - Corea 8
BR - Brasile 5
GR - Grecia 5
IR - Iran 4
PK - Pakistan 3
CZ - Repubblica Ceca 2
JP - Giappone 2
MT - Malta 2
RO - Romania 2
TH - Thailandia 2
BY - Bielorussia 1
DZ - Algeria 1
EU - Europa 1
HU - Ungheria 1
ID - Indonesia 1
IQ - Iraq 1
KE - Kenya 1
LK - Sri Lanka 1
LU - Lussemburgo 1
MX - Messico 1
QA - Qatar 1
SI - Slovenia 1
SV - El Salvador 1
UZ - Uzbekistan 1
Totale 16.926
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Città #
Warsaw 1.873
Santa Clara 1.371
Fairfield 1.168
Dublin 641
Chandler 614
Woodbridge 581
Ashburn 558
Seattle 488
Houston 423
Cambridge 402
Wilmington 361
Singapore 296
Jacksonville 245
Altamura 240
Lawrence 240
Ann Arbor 224
Princeton 207
Florence 175
Hong Kong 148
Beijing 134
Boston 119
Boardman 104
Buffalo 103
Bern 83
San Diego 78
Bremen 74
Mumbai 70
Medford 65
Shanghai 64
Moscow 53
Dong Ket 45
Falls Church 41
Norwalk 36
Los Angeles 33
Milan 32
Abidjan 31
Kent 30
Barcelona 26
New York 26
Rome 25
Andover 23
Dearborn 20
Helsinki 20
Toronto 18
Yubileyny 16
Brussels 15
Hillsboro 15
Izmir 14
Phoenix 14
London 12
Vienna 12
Guangzhou 11
Sofia 11
Tappahannock 10
Auburn Hills 9
Bologna 8
Redmond 8
Redwood City 8
Verona 8
Chicago 7
Prato 7
Seoul 7
Cagliari 6
Napoli 6
Padova 6
Pune 6
Turin 6
Fuzhou 5
Hangzhou 5
Meppel 5
Munich 5
Pisa 5
Shenzhen 5
Torino 5
Aprilia 4
Cosenza 4
Palermo 4
Paris 4
Rapallo 4
Trento 4
Trieste 4
Vicenza 4
Brescia 3
Budrio 3
Casoria 3
Castellina In Chianti 3
Düsseldorf 3
Frankfurt Am Main 3
Genoa 3
Heze 3
Islamabad 3
Kilburn 3
Laurel 3
Liberi 3
Poggio a Caiano 3
Rui'an 3
Salerno 3
Sestu 3
Arezzo 2
Augusta 2
Totale 11.949
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Nome #
Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia 279
Determinants of vitamin D levels in children and adolescents with Down syndrome. 244
Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome. 237
Diabetes mellitus in a girl with thyroid hormone resistance syndrome: A little recognized interaction between the two diseases 235
Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes. 228
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report. 226
SLMSuite: a suite of algorithms for segmenting genomic profiles 225
Molecular mechanisms generating and stabilizing terminal 22q13Deletions in 44 subjects with Phelan/McDermid Syndrome 224
De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s. 221
Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis 217
PROFILO CLINICO E MOLECOLARE DI PAZIENTI AFFETTI DA ACIDOSI TUBULARE RENALE DISTALE 188
Bone mineral status and metabolism in patients with Williams-Beuren syndrome. 170
New Thoughts on Pediatric Genetic Obesity: Pathogenesis, Clinical Characteristics and Treatment Approach 169
Bone mineral status in children and adolescents with klinefelter syndrome 169
Prevalence and prenatal ultrasound detection of clubfoot in a non-selected population: an analysis of 549 931 births in Tuscany. 165
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 164
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 163
Acute kidney injury promotes development of papillary renal cell adenoma and carcinoma from renal progenitor cells. 161
Case report of an atypical early onset X-linked retinoschisis in monozygotic twins 161
Genome-wide copy number analysis in pediatric glioblastoma multiforme. 154
NEXT GENERATION SEQUENCING: IMPLICAZIONI NELLA PRATICA CLINICA E NELLA DIAGNOSI DELLA SINDROME NEFROSICA STEROIDO-RESISTENTE 150
Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype 149
Y-chromosome microdeletions are not associated with SHOX haploinsufficiency. 146
Michelangelo’s David: triumph of perfection or perfect combination of variation and disproportions? A human perspective. 142
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes. 141
NGS e malattie renali: aspetti clinici e molecolari delle acidosi tubulari renali 139
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis 138
Reverse phenotyping after whole-Exome sequencing in steroid-resistant nephrotic syndrome 137
A microRNA profile of pediatric glioblastoma: The role of NUCKS1 upregulation 136
Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation 132
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 130
8.5 Mb deletion at distal 5p in a male ascertained for azoospermia. 129
Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication 128
De novo unbalanced translocations have a complex history/aetiology 127
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25. 125
LA NUOVA ERA NELLA DIAGNOSI CLINICO-GENETICA DEL DIABETE MONOFATTORIALE E DIABETE TIPO 2: SCREENING MEDIANTE NEXT GENERATION SEQUENCING 125
Brain tumors in Li-Fraumeni syndrome: a commentary and a case of a gliosarcoma patient 124
Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression 123
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 123
Expression of β-adrenergic receptors in pediatric malignant brain tumors. 122
Prenatal diagnosis of X-linked adrenoleukodystrophy associated with isolated pericardial effusion 122
Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos. 121
Cross-sectional study shows that impaired bone mineral status and metabolism are found in non mosaic triple X syndrome 121
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients. 118
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity 117
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin remodeling genes 117
Human urine-derived renal progenitors for personalized modeling of genetic kidney disorders 117
Can HbA1c combined with fasting plasma glucose help to assess priority for GCK-MODY vs HNF1A-MODY genetic testing? 115
GCMB, a second human homolog of the fly glide/gcm gene 112
Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome? 112
Molecular characterization of paediatric glioneuronal tumours with neuropil-like islands: a genome-wide copy number analysis. 109
Diagnostic implications of genetic copy number variation in epilepsy plus. 109
A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family 109
Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations 109
Structure and mutation analysis of the glycogen storage disease type 1b gene. 107
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. 107
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. 107
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity 106
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. 105
Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis. 105
Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions 105
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. 105
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH 105
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? 104
Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes 103
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. 103
Clinical correlates in children with autism spectrum disorder and CNVs: systematic investigation in a clinical setting. 103
Inverted duplications: how many of them are mosaic? 101
GENE-03. MICRORNAS PROFILE IN PAEDIATRIC GBMS 101
Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene 101
Transmission of a fully functional human neocentromere through three generations 100
Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q. 100
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 100
Jumping translocations in acute lymphoblastic leukemia. 99
Diabetes mellitus in a girl with thyroid hormone resistance syndrome: a little recognized interaction between the two diseases 99
Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian pediatric diabetes centers during 2007 to 2012 99
Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD) 98
Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects. 98
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 98
New syndrome of mental retardation, Robin sequence, and brachydactyly 97
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases 97
Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes 96
Transient hyperoxaluria in a patient with inherited distal renal tubular acidosis 95
Reciprocal translocations: a trap for cytogenetists? 94
Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter 93
CENP-G in neocentromeres and inactive centromeres 93
Leigh-like neuroimaging features associated with new biallelic mutations in OPA1 93
Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements. 93
MYOCLONIC ASTATIC EPILEPSY IN A PATIENT WITH A DE NOVO 4q21.22q21.23 MICRODUPLICATION 93
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. 92
Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardation. 92
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies 91
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching. 91
Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity. 90
Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome. 90
A novel pseudoautosomal gene encoding a putative GTP-bindig protein resides in the vicinity of the Xp/Yp telomere 89
Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardation 89
Olfactory receptor-gene clusters, genomic inversion polymorphisms, and common chromosome rearrangements. 89
Ring chromosome 13 with loss of the region D13S317-D13S285: phenotypic overlap with XK syndrome. 89
Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2 89
Totale 12.768
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Categoria #
all - tutte 47.538
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 47.538
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20202.226 0 0 0 0 331 360 303 351 324 231 251 75
2020/20211.972 152 172 98 243 87 229 129 150 188 274 113 137
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
2024/20254.291 279 747 442 1.071 1.752 0 0 0 0 0 0 0
Totale 17.199