IRIS
PERCESEPE, Antonio
 Distribuzione geografica
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Continente #
NA - Nord America 4.224
AS - Asia 3.906
EU - Europa 2.452
SA - Sud America 708
AF - Africa 224
OC - Oceania 2
Continente sconosciuto - Info sul continente non disponibili 1
Totale 11.517
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Nazione #
US - Stati Uniti d'America 4.133
SG - Singapore 1.748
CN - Cina 1.087
BR - Brasile 576
IE - Irlanda 504
IT - Italia 485
SE - Svezia 417
HK - Hong Kong 348
DE - Germania 265
VN - Vietnam 261
NL - Olanda 189
TR - Turchia 164
ZA - Sudafrica 162
FI - Finlandia 132
RU - Federazione Russa 93
FR - Francia 82
GB - Regno Unito 76
AR - Argentina 54
IN - India 53
AT - Austria 50
BE - Belgio 38
BD - Bangladesh 36
CA - Canada 35
IQ - Iraq 34
JP - Giappone 34
MX - Messico 32
PL - Polonia 32
ID - Indonesia 24
KR - Corea 23
EC - Ecuador 22
ES - Italia 18
CI - Costa d'Avorio 17
CZ - Repubblica Ceca 17
MA - Marocco 16
UA - Ucraina 16
UZ - Uzbekistan 15
CO - Colombia 13
VE - Venezuela 12
IL - Israele 11
CL - Cile 10
PK - Pakistan 10
AE - Emirati Arabi Uniti 9
KE - Kenya 9
PY - Paraguay 9
PE - Perù 7
EG - Egitto 6
IR - Iran 6
JO - Giordania 6
LT - Lituania 6
NP - Nepal 6
AZ - Azerbaigian 5
KZ - Kazakistan 5
UY - Uruguay 5
OM - Oman 4
RS - Serbia 4
TT - Trinidad e Tobago 4
CH - Svizzera 3
DZ - Algeria 3
LB - Libano 3
LV - Lettonia 3
RO - Romania 3
SA - Arabia Saudita 3
AL - Albania 2
BG - Bulgaria 2
BH - Bahrain 2
BS - Bahamas 2
BY - Bielorussia 2
DM - Dominica 2
DO - Repubblica Dominicana 2
ET - Etiopia 2
HU - Ungheria 2
JM - Giamaica 2
MK - Macedonia 2
NI - Nicaragua 2
PA - Panama 2
PH - Filippine 2
PT - Portogallo 2
SN - Senegal 2
SV - El Salvador 2
TN - Tunisia 2
AD - Andorra 1
AF - Afghanistan, Repubblica islamica di 1
AU - Australia 1
BB - Barbados 1
CD - Congo 1
CM - Camerun 1
CR - Costa Rica 1
EU - Europa 1
GA - Gabon 1
GR - Grecia 1
GT - Guatemala 1
HN - Honduras 1
KH - Cambogia 1
KW - Kuwait 1
LK - Sri Lanka 1
LU - Lussemburgo 1
LY - Libia 1
MD - Moldavia 1
MN - Mongolia 1
MO - Macao, regione amministrativa speciale della Cina 1
Totale 11.509
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Città #
Singapore 824
Ashburn 570
Dublin 502
Chandler 501
Santa Clara 483
Hong Kong 346
Beijing 329
Dallas 305
Boardman 171
Ann Arbor 159
Johannesburg 153
Munich 142
Izmir 137
Parma 133
Dearborn 124
Princeton 117
Nanjing 108
Ho Chi Minh City 107
New York 94
Helsinki 84
Los Angeles 78
Columbus 68
Moscow 64
Wilmington 64
São Paulo 54
Marseille 52
Shanghai 50
Hanoi 45
Shenyang 37
The Dalles 37
Vienna 37
Buffalo 36
Houston 35
Bologna 34
Guangzhou 30
Seattle 30
Des Moines 29
Brussels 28
Nanchang 28
Tokyo 28
Hebei 27
Jinan 27
Grafing 26
Warsaw 26
Hefei 25
Kunming 25
Milan 25
Tianjin 25
San Jose 24
Jiaxing 23
Nuremberg 20
Phoenix 20
Modena 19
Haiphong 18
Abidjan 17
Bremen 17
Council Bluffs 17
Chennai 16
Jakarta 16
Redondo Beach 16
Rio de Janeiro 16
Denver 15
London 15
Stockholm 15
Zhengzhou 15
Belo Horizonte 14
Chicago 13
Frankfurt am Main 13
San Francisco 13
San Mateo 13
Tashkent 13
Turku 13
Woodbridge 13
Changsha 12
Norwalk 12
Toronto 12
Baghdad 11
Guarulhos 11
Jacksonville 11
Orem 11
Seongbuk-gu 11
Amsterdam 10
Boston 10
Brooklyn 10
Curitiba 10
Fairfield 10
Manchester 10
Mexico City 10
Rome 10
Ankara 9
Brasília 9
Da Nang 9
Fremont 9
Madrid 9
Mumbai 9
Poplar 9
Atlanta 8
Biên Hòa 8
Montreal 8
Nairobi 8
Totale 7.129
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Nome #
Combination of ultrasound and molecular testing in malignancy risk estimate of Bethesda category IV thyroid nodules: results from a single-institution prospective study 279
Self-Amputation of the Extra Digit in a Fetus with Polydactyly: First Ultrasound Demonstration. 207
The -2518 A/G polymorphism of the monocyte chemoattractant protein-1 as a candidate genetic predisposition factor for secondary myelofibrosis and biomarker of disease severity 177
Monogenic autoinflammatory diseases with mendelian inheritance: Genes, mutations, and genotype/phenotype correlations 177
Neurofibromatosis type I and multiple myeloma coexistence: A possible link? 172
Alpha-1 antitrypsin deficiency is significantly associated with atopy in asthmatic patients 166
Impact of the rs1024611 polymorphism of ccl2 on the pathophysiology and outcome of primary myelofibrosis 160
Unmasking selective path integration deficits inAlzheimer’s disease risk carriers 154
Spectrum of X-linked intellectual disabilities and psychiatric symptoms in a family harbouring a Xp22.12 microduplication encompassing the RPS6KA3 gene 147
F7 gene variants modulate protein levels in a large cohort of patients with factor VII deficiency: Results from a genotype-phenotype study 144
Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing 141
Genetic diagnosis in neonatal-onset epilepsies: Back to the future 137
A large-scale genetic analysis reveals an autoimmune origin of idiopathic retroperitoneal fibrosis 137
Discrimination of FCGR2B polymorphism without coamplification of FCGR2A and FCGR2C genes 135
Charcot-Marie-Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy 134
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I 134
Cortical malformations and COL4A1 mutation: Three new cases 133
Patterns of novel alleles and genotype/phenotype correlations resulting from the analysis of 108 previously undetected mutations in patients affected by neurofibromatosis type I 127
Circadian variations of epithelial cell proliferation in human rectal crypts 121
Survival analysis in families affected by hereditary non-polyposis colorectal cancer 121
Age-specific risk of fetal loss post second trimester amniocentesis: Analysis of 5043 cases 120
Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1. 118
Biological parameters determining the clinical outcome of autologous cultures of limbal stem cells 118
Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing 117
A patient with mosaic USP9X gene variant 116
Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer 116
Amplicon-based next-generation sequencing: An effective approach for the molecular diagnosis of epidermolysis bullosa 111
K-ras and p53 mutations in hereditary non-polyposis colorectal cancers 108
Genomic instability and target gene mutations in colon cancers with different degrees of allelic shifts 107
Clinical and biologic heterogeneity of hereditary nonpolyposis colorectal cancer 104
Gain-of-function mutations in DNMT3A in patients with paraganglioma 103
Hypomelanosis of Ito with a trisomy 2 mosaicism: a case report 101
A three-generation family with terminal microdeletion involving 5p15.33-32 due to a whole-arm 5;15 chromosomal translocation with a steady phenotype of atypical cri du chat syndrome 101
Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans 100
A new MEFV gene mutation in an Iranian patient with familial Mediterranean fever 100
A syndromic form of pierre robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX 98
A 12.4 Mb direct duplication in 19q12-q13 in a boy with cardiac and CNS malformations and developmental delay 98
Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the PCNT gene associated with microcephalic osteodysplastic primordial dwarfism type II 98
The homozygous deletion of the 3′ enhancer of the SHOX gene causes Langer mesomelic dysplasia [3] 95
MLH1 and MSH2 constitutional mutations in colorectal cancer families not meeting the standard criteria for hereditary nonpolyposis colorectal cancer 94
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study 93
Pure Parkinsonism as Possible Phenotype Expansion of THAP1-Related Disorders 93
Mutation screening of the Otop1 gene in familial benign positional paroxysmal vertigo 93
SHOX point mutations and deletions in Leri-Weill dyschondrosteosis 92
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders 91
BCR-ABL1 compound mutants: prevalence, spectrum and correlation with tyrosine kinase inhibitor resistance in a consecutive series of Philadelphia chromosome-positive leukemia patients analyzed by NGS 90
A two-locus model for hereditary non-polyposis colorectal cancer in Modena, Italy 89
Clinical and genetic findings in a series of eight families with arthrogryposis 89
Phenotypic Expansion of Autosomal Dominant LZTR1-Related Disorders with Special Emphasis on Adult-Onset Features 87
Genetics of Darier’s Disease: New Insights into Pathogenic Mechanisms 84
Structural chromosomal abnormalities detected during CVS analysis and their role in the prenatal ascertainment of cryptic subtelomeric rearrangements 84
Colorectal carcinoma in different age groups: A population-based investigation 84
Genes and translocations involved in POF 83
ANCA-Associated Vasculitis 83
A case series of non-small cell lung cancer patients with EGFR or HER2 exon 20 insertion in Li Fraumeni syndrome 83
Severe hypertrophic cardiomyopathy in a patient with a homozygous MYH7 gene variant 82
Muir–Torre syndrome or phenocopy? The value of the immunohistochemical expression of mismatch repair proteins in sebaceous tumors of immunocompromised patients 82
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa 81
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis 80
Mosaic derivative chromosomes at chorionic villi (CV) sampling are expression of genomic instability and precursors of cryptic disease-causing rearrangements: report of further four cases 79
Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: A multivariate analysis 78
Facioscapulohumeral muscular dystrophy: New insights from compound heterozygotes and implication for prenatal genetic counselling 77
Results and clinical interpretation of germline RET analysis in a series of patients with medullary thyroid carcinoma: The challenge of the variants of uncertain significance 77
Familial Beckwith-Wiedemann syndrome due to CDKN1C mutation manifesting with recurring omphalocele 77
The I1307K polymorphism of the APC gene in colorectal cancer 77
Clinical and molecular diagnosis of hereditary non-polyposis colorectal cancer: Problems and pitfalls in an extended pedigree 76
Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, malik-percin type 75
Cerebral aneurysms and kidney disease in a child with microcephalic osteodysplastic primordial dwarfism type II: novel homozygous mutation in the PCNT gene 74
New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: A genotype/auditory phenotype correlation 74
Prospective assessment of NGS-detectable mutations in CML patients with nonoptimal response: the NEXT-in-CML study 74
Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis 74
Methylation pattern of different regions of the MLH1 promoter and silencing of gene expression in hereditary and sporadic colorectal cancer 73
Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond 72
Pathogenesis of colorectal cancer 72
Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome 72
Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory 71
VACTERL(Vertebral defects, Anal atresia,Tracheoesophageal fistula with Esophageal Atresia,Cardiac defects,renal and limb anomalies) Association:Disease spectrum in 25 patients ascertained for their upper limb involvement 71
Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination 71
Clinical and biomolecular identification of hereditary non-polyposis colorectal cancer 71
MicroRNA Expression in Malignant Pleural Mesothelioma and Asbestosis: A Pilot Study 71
Pure segmental trisomy 1q42-qter in a boy with a severe phenotype [1] 70
Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review 70
Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester 69
Pre- and post-natal growth in two sisters with 3-M syndrome 69
Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease 69
Incidence of non-age-dependent chromosomal abnormalities: A population-based study on 88965 amniocenteses 68
The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability [3] 68
The effect of family size on estimates of the frequency of hereditary non-polyposis colorectal cancer 67
Phenotype-genotype correlations in an extended family with adenomatosis coli and an unusual APC gene mutation 67
OrphanAnesthesia - A common project of the Scientific Working Group of Paediatric Anaesthesia of the German Society of Anaesthesiology and Intensive Care Medicine 67
Reverse phenotyping comes of age 66
Prenatal diagnosis and postnatal follow-up of a child with mosaic trisomy 22 with several levels of mosaicism in different tissues 64
Mismatch repair genes and mononucleotide tracts as mutation targets in colorectal tumors with different degrees of microsatellite instability 64
Clinical features, frequency and prognosis of Dukes' A colorectal carcinoma: A population-based investigation 64
The effect of carriers’ reproductive choices and pregnancy history on sporadic severe haemophilia: A 20-year retrospective study through a regional registry 63
Recurrent germline mutation in MSH2 arises frequently de novo 62
Fattori ereditari nei tumori dell'apparato digerente 62
Frequency and clinical features of multiple tumors of the large bowel in the general population and in patients with hereditary colorectal carcinoma 62
Exome sequencing in a patient with Catele-Manzke-like syndrome excludes the involvement of the known genes and reveals a possible candidate 62
Early diagnosis of branchio-oculo-facial syndrome in a patient with inner ear malformation and mild ocular involvement 61
Totale 9.739
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Categoria #
all - tutte 47.233
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 47.233
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021169 0 0 0 0 0 19 19 25 42 20 19 25
2021/2022452 17 5 12 17 28 30 17 36 19 18 18 235
2022/20231.830 210 173 126 149 129 219 7 121 609 8 63 16
2023/2024759 55 78 25 22 55 182 40 55 28 61 48 110
2024/20253.265 40 213 201 234 323 481 219 150 445 306 232 421
2025/20263.803 632 530 822 674 902 243 0 0 0 0 0 0
Totale 11.717