GIGLIO, SABRINA RITA
 Distribuzione geografica
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Continente #
NA - Nord America 7.233
EU - Europa 4.993
AS - Asia 851
AF - Africa 2
SA - Sud America 2
Continente sconosciuto - Info sul continente non disponibili 1
Totale 13.082
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Nazione #
US - Stati Uniti d'America 7.212
PL - Polonia 1.873
IT - Italia 900
IE - Irlanda 643
SE - Svezia 488
HK - Hong Kong 286
CN - Cina 278
RU - Federazione Russa 277
UA - Ucraina 191
DE - Germania 187
FI - Finlandia 149
SG - Singapore 123
CH - Svizzera 86
GB - Regno Unito 77
JO - Giordania 61
VN - Vietnam 54
FR - Francia 32
ES - Italia 27
CA - Canada 19
BE - Belgio 16
TR - Turchia 16
IN - India 13
NL - Olanda 13
AT - Austria 12
BG - Bulgaria 10
KR - Corea 8
GR - Grecia 5
IR - Iran 4
PK - Pakistan 3
BR - Brasile 2
MT - Malta 2
TH - Thailandia 2
BY - Bielorussia 1
CZ - Repubblica Ceca 1
DZ - Algeria 1
EU - Europa 1
ID - Indonesia 1
JP - Giappone 1
KE - Kenya 1
LU - Lussemburgo 1
MX - Messico 1
QA - Qatar 1
RO - Romania 1
SI - Slovenia 1
SV - El Salvador 1
Totale 13.082
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Città #
Warsaw 1.873
Fairfield 1.168
Dublin 641
Chandler 614
Woodbridge 581
Ashburn 557
Seattle 488
Houston 423
Cambridge 402
Wilmington 361
Jacksonville 245
Altamura 240
Lawrence 240
Ann Arbor 224
Princeton 207
Florence 175
Hong Kong 148
Beijing 133
Boston 119
Boardman 104
Buffalo 103
Bern 83
San Diego 78
Bremen 74
Singapore 74
Medford 65
Shanghai 63
Dong Ket 45
Falls Church 41
Norwalk 36
Los Angeles 32
Kent 30
Milan 28
Moscow 28
Barcelona 26
New York 26
Rome 25
Andover 23
Dearborn 20
Toronto 18
Helsinki 16
Brussels 15
Hillsboro 15
Izmir 14
Phoenix 14
London 12
Vienna 12
Guangzhou 10
Sofia 10
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
Torino 5
Aprilia 4
Cosenza 4
Palermo 4
Paris 4
Rapallo 4
Shenzhen 4
Trento 4
Trieste 4
Vicenza 4
Brescia 3
Casoria 3
Castellina In Chianti 3
Düsseldorf 3
Frankfurt Am Main 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
Bangkok 2
Brest 2
Catania 2
Central 2
Clifton 2
Delhi 2
Dolianova 2
Fiorenzuola d'Arda 2
Totale 10.199
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Nome #
Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia 247
Determinants of vitamin D levels in children and adolescents with Down syndrome. 219
Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome. 213
Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes. 211
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report. 209
Molecular mechanisms generating and stabilizing terminal 22q13Deletions in 44 subjects with Phelan/McDermid Syndrome 207
De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s. 206
Diabetes mellitus in a girl with thyroid hormone resistance syndrome: A little recognized interaction between the two diseases 205
Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis 199
SLMSuite: a suite of algorithms for segmenting genomic profiles 198
PROFILO CLINICO E MOLECOLARE DI PAZIENTI AFFETTI DA ACIDOSI TUBULARE RENALE DISTALE 169
New Thoughts on Pediatric Genetic Obesity: Pathogenesis, Clinical Characteristics and Treatment Approach 149
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 144
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 142
Prevalence and prenatal ultrasound detection of clubfoot in a non-selected population: an analysis of 549 931 births in Tuscany. 140
Bone mineral status in children and adolescents with klinefelter syndrome 140
Case report of an atypical early onset X-linked retinoschisis in monozygotic twins 137
Bone mineral status and metabolism in patients with Williams-Beuren syndrome. 136
Genome-wide copy number analysis in pediatric glioblastoma multiforme. 130
NEXT GENERATION SEQUENCING: IMPLICAZIONI NELLA PRATICA CLINICA E NELLA DIAGNOSI DELLA SINDROME NEFROSICA STEROIDO-RESISTENTE 128
Acute kidney injury promotes development of papillary renal cell adenoma and carcinoma from renal progenitor cells. 126
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes. 123
Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype 121
Y-chromosome microdeletions are not associated with SHOX haploinsufficiency. 114
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 113
NGS e malattie renali: aspetti clinici e molecolari delle acidosi tubulari renali 111
A microRNA profile of pediatric glioblastoma: The role of NUCKS1 upregulation 111
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis 109
Prenatal diagnosis of X-linked adrenoleukodystrophy associated with isolated pericardial effusion 105
Michelangelo’s David: triumph of perfection or perfect combination of variation and disproportions? A human perspective. 105
Reverse phenotyping after whole-Exome sequencing in steroid-resistant nephrotic syndrome 104
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25. 103
8.5 Mb deletion at distal 5p in a male ascertained for azoospermia. 103
LA NUOVA ERA NELLA DIAGNOSI CLINICO-GENETICA DEL DIABETE MONOFATTORIALE E DIABETE TIPO 2: SCREENING MEDIANTE NEXT GENERATION SEQUENCING 102
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity 99
Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation 99
Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression 98
Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos. 97
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients. 95
Brain tumors in Li-Fraumeni syndrome: a commentary and a case of a gliosarcoma patient 95
Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication 94
De novo unbalanced translocations have a complex history/aetiology 94
Cross-sectional study shows that impaired bone mineral status and metabolism are found in non mosaic triple X syndrome 93
Expression of β-adrenergic receptors in pediatric malignant brain tumors. 91
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. 91
GCMB, a second human homolog of the fly glide/gcm gene 89
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. 88
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 88
Can HbA1c combined with fasting plasma glucose help to assess priority for GCK-MODY vs HNF1A-MODY genetic testing? 88
Human urine-derived renal progenitors for personalized modeling of genetic kidney disorders 88
A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family 85
Inverted duplications: how many of them are mosaic? 84
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. 84
Diagnostic implications of genetic copy number variation in epilepsy plus. 84
Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions 84
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? 83
Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q. 83
Molecular characterization of paediatric glioneuronal tumours with neuropil-like islands: a genome-wide copy number analysis. 83
Structure and mutation analysis of the glycogen storage disease type 1b gene. 83
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. 83
Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome? 83
Transmission of a fully functional human neocentromere through three generations 82
Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects. 81
Clinical correlates in children with autism spectrum disorder and CNVs: systematic investigation in a clinical setting. 81
New syndrome of mental retardation, Robin sequence, and brachydactyly 80
null 80
Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis. 80
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin remodeling genes 80
Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations 80
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) 78
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity 77
Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes 76
Jumping translocations in acute lymphoblastic leukemia. 76
Olfactory receptor-gene clusters, genomic inversion polymorphisms, and common chromosome rearrangements. 76
Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian pediatric diabetes centers during 2007 to 2012 76
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. 75
Reciprocal translocations: a trap for cytogenetists? 75
Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardation. 75
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. 75
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH 75
Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity. 74
Diabetes mellitus in a girl with thyroid hormone resistance syndrome: a little recognized interaction between the two diseases 74
CENP-G in neocentromeres and inactive centromeres 73
Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardation 73
Transient hyperoxaluria in a patient with inherited distal renal tubular acidosis 73
GENE-03. MICRORNAS PROFILE IN PAEDIATRIC GBMS 73
Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter 72
Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes 72
Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements. 72
Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2 70
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching. 69
Ring chromosome 13 with loss of the region D13S317-D13S285: phenotypic overlap with XK syndrome. 69
Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene 67
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 67
Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome. 66
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion. 66
Leigh-like neuroimaging features associated with new biallelic mutations in OPA1 66
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 66
Genomic organization and chromosomal localization of the mouse Connexin36 (mCx36) gene 65
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases 64
Totale 10.354
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Categoria #
all - tutte 40.144
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 40.144
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20202.793 0 265 75 227 331 360 303 351 324 231 251 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
2024/2025447 279 168 0 0 0 0 0 0 0 0 0 0
Totale 13.355