Distribuzione geografica
Continente #
EU - Europa 31.431
NA - Nord America 3.729
AS - Asia 384
SA - Sud America 12
OC - Oceania 7
AF - Africa 6
Totale 35.569
Nazione #
IT - Italia 30.291
US - Stati Uniti d'America 3.676
RU - Federazione Russa 474
SE - Svezia 309
SG - Singapore 136
CN - Cina 88
GB - Regno Unito 78
FI - Finlandia 72
DE - Germania 71
VN - Vietnam 70
CA - Canada 50
FR - Francia 26
UA - Ucraina 24
HK - Hong Kong 17
IN - India 16
IE - Irlanda 13
TR - Turchia 13
BY - Bielorussia 11
ES - Italia 11
IR - Iran 10
BE - Belgio 9
NL - Olanda 8
CH - Svizzera 7
JP - Giappone 7
PK - Pakistan 7
IL - Israele 6
KR - Corea 6
TW - Taiwan 6
AR - Argentina 5
BR - Brasile 5
CZ - Repubblica Ceca 5
NO - Norvegia 5
AU - Australia 4
RO - Romania 4
MX - Messico 3
NZ - Nuova Zelanda 3
ZA - Sudafrica 3
AT - Austria 2
DZ - Algeria 2
GR - Grecia 2
IQ - Iraq 2
PE - Perù 2
PL - Polonia 2
DK - Danimarca 1
HR - Croazia 1
HU - Ungheria 1
LT - Lituania 1
LV - Lettonia 1
MZ - Mozambico 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
Totale 35.569
Città #
Cagliari 29.842
Fairfield 651
Wilmington 292
Ashburn 279
Woodbridge 277
Nyköping 267
Seattle 267
Houston 248
Cambridge 219
Chandler 168
Jacksonville 165
Boston 133
Ann Arbor 84
San Diego 76
Dong Ket 70
Helsinki 69
Toronto 38
Boardman 36
Redwood City 35
Rome 35
London 29
Shanghai 26
Norwalk 24
Milan 23
Mountain View 15
Beijing 13
Chicago 13
Nanjing 13
Bologna 12
Florence 12
Hong Kong 12
Redmond 12
Minsk 11
New York 11
Bari 9
Sardara 9
Assèmini 7
Bogazici 7
Borås 7
Kilburn 6
Livorno 6
Prescot 6
Turin 6
Wuhan 6
Berlin 5
Columbus 5
Mumbai 5
Naples 5
Olbia 5
Oslo 5
Padova 5
Palermo 5
Paris 5
Ploaghe 5
Porto Torres 5
San Mateo 5
Singapore 5
Taipei 5
Acton 4
Andover 4
Dolianova 4
Frankfurt am Main 4
Grassano 4
Guangzhou 4
Islamabad 4
Jinan 4
Luras 4
Monserrato 4
Monza 4
New Bedfont 4
Sassari 4
Sestu 4
Torre del Greco 4
Washington 4
Arosio 3
Bengaluru 3
Brescia 3
Cadelbosco di Sopra 3
Calabritto 3
Cascina 3
Central 3
Düsseldorf 3
Hangzhou 3
Humble 3
Islington 3
Leawood 3
Los Angeles 3
Louvain 3
Ottawa 3
Prague 3
Pretoria 3
Pune 3
Rio De Janeiro 3
Rockville 3
Seoul 3
Solingen 3
Vasanello 3
Wandsworth 3
Abbasanta 2
Atlanta 2
Totale 33.756
Nome #
Natural killer-cell immunoglobulin-like receptors trigger differences in immune response to SARS-CoV-2 infection 723
A de novo 2q interstitial deletion in a patient with a Turner phenotype 567
A microRNA profile of pediatric glioblastoma: The role of NUCKS1 upregulation 528
Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation 490
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity 487
Disseminated Mycobacterium xenopi in an Adult with IL-12Rβ1 Deficiency 484
A Protective HLA Extended Haplotype Outweighs the Major COVID-19 Risk Factor Inherited From Neanderthals in the Sardinian Population 476
RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism 471
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study 457
Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report 455
Differential diagnosis between Marfan syndrome and Loeys–Dietz syndrome type 4: A novel chromosomal deletion covering tgfb2 447
Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome 446
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 424
Diagnostic implications of genetic copy number variation in epilepsy plus 424
Noninvasive Prenatal Diagnosis in a Family at Risk for Fraser Syndrome 421
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 414
De novo unbalanced translocations have a complex history/aetiology 412
PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With Alpelisib 405
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 403
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder 397
Acute kidney injury promotes development of papillary renal cell adenoma and carcinoma from renal progenitor cells 397
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin‑remodeling genes 396
Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation 392
Genetic counseling during COVID-19 pandemic: Tuscany experience 391
Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype 385
Estudio clínico y molecular en una familia con displasia ectodérmica hipohidrótica autosómica dominante = Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia 379
Michelangelo’s David: triumph of perfection or perfect combination of variation and disproportions? A human perspective 367
Decision trees to evaluate the risk of developing multiple sclerosis 351
Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission 340
Duplication of FOXP2 binding sites within CNTNAP2 gene in a girl with neurodevelopmental delay 337
Cross-sectional study shows that impaired bone mineral status and metabolism are found in non mosaic triple X syndrome 333
Brain tumors in Li-Fraumeni syndrome: a commentary and a case of a gliosarcoma patient 332
Can HbA1c combined with fasting plasma glucose help to assess priority for GCK-MODY vs HNF1A-MODY genetic testing? 331
Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition 324
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies 323
Clinical correlates in children with autism spectrum disorder and CNVs: systematic investigation in a clinical setting 322
Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos 321
Reverse phenotyping after whole-Exome sequencing in steroid-resistant nephrotic syndrome 319
Tre casi di disgenesia ovarica associata a delezione Xp11.4 - pter e duplicazione Xq2 - qter de novo, di origine paterna. 316
A novel splicing variant of col2a1 in a fetus with achondrogenesis type ii: Interpretation of pathogenicity of in-frame deletions 316
Neurological phenomenology of the IRF2BPL mutation syndrome: Analysis of a new case and systematic review of the literature 314
Distal renal tubular acidosis: a systematic approach from diagnosis to treatment 311
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH 309
Identificazione e caratterizzazione sistematica di cDNA umani e murini omologhi a geni mutanti in Drosophila. 305
A novel stop codon variant affecting ΔNp63 isoforms associated with non-syndromic limb-mammary phenotype and uterine cervix dysplasia 305
Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence? 304
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis 300
Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder 292
Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice 291
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type 290
Un bambino con severo ritardo di crescita e cisti renali = A child with severe growth delay and renal cysts 281
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching 265
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases 265
New Thoughts on Pediatric Genetic Obesity: Pathogenesis, Clinical Characteristics and Treatment Approach 256
SLMSuite: a suite of algorithms for segmenting genomic profiles 254
Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian pediatric diabetes centers during 2007 to 2012 252
Case report of an atypical early onset X-linked retinoschisis in monozygotic twins 243
Exclusive Neurogenic Bladder and Fecal Incontinency in an Achondroplasic Child Successfully Treated with Lumbar Foraminal Decompression 235
Non-Invasive Detection of a De Novo Frameshift Variant of STAG2 in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females 233
The double-sided of human leukocyte antigen-G molecules in type 1 autoimmune hepatitis 226
A review of the main genetic factors influencing the course of COVID-19 in Sardinia: the role of human leukocyte antigen-G 223
Decision trees for early prediction of inadequate immune response to coronavirus infections: a pilot study on COVID-19 222
Leigh-like neuroimaging features associated with new biallelic mutations in OPA1 204
Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotype 204
STOP Pain Project—Opioid Response in Pediatric Cancer Patients and Gene Polymorphisms of Cytokine Pathways 195
Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene 184
Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression 182
Myoclonic astatic epilepsy in a patient with a de novo 4q21.22q21.23 microduplication 172
Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritis 170
Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature 169
Jumping translocations in acute lymphoblastic leukemia 164
Pregnancy outcome of confined placental mosaicism: meta-analysis of cohort studies 159
Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome? 158
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes 156
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene 156
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 154
Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis 151
Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardation 147
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 145
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? 141
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) 141
Y-chromosome microdeletions are not associated with SHOX haploinsufficiency 139
A novel pseudoautosomal gene encoding a putative GTP-bindig protein resides in the vicinity of the Xp/Yp telomere 138
Severe Obesity Associated with Severe Hyperinsulinism and T2D in a Family with Mutation in SH2B1 Gene 138
A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family 137
Reciprocal translocations: a trap for cytogenetists? 135
Growth hormone therapy-related hyperglycaemia in a boy with renal cystic hypodysplasia and a new mutation of the HNF1 beta gene 134
Identification and characterization of a new human gene encoding a small protein with high homology to the proline-rich region of the SH3BGR gene 134
Prevalence and prenatal ultrasound detection of clubfoot in a non-selected population: an analysis of 549 931 births in Tuscany 130
Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia 130
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 128
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 128
Human urine-derived renal progenitors for personalized modeling of genetic kidney disorders 126
Bone mineral status and metabolism in patients with Williams-Beuren syndrome 125
Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia 120
Totale 28.125
Categoria #
all - tutte 74.820
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 74.820

Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/20196 0 0 0 0 0 0 0 0 0 0 3 3
2019/2020123 29 8 2 3 15 33 16 8 0 3 3 3
2020/20213.808 19 9 22 1.237 414 328 598 274 86 229 198 394
2021/20226.335 428 527 246 232 381 669 286 301 440 517 1.233 1.075
2022/202311.323 1.200 1.303 854 568 892 1.157 715 1.036 1.150 724 1.039 685
2023/202414.310 822 680 845 1.193 1.944 2.872 3.078 1.163 812 901 0 0
Totale 35.959