IRIS
PERCESEPE, Antonio
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 5.869
AS - Asia 5.387
EU - Europa 2.941
SA - Sud America 790
AF - Africa 288
Continente sconosciuto - Info sul continente non disponibili 209
OC - Oceania 2
Totale 15.486
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 5.716
SG - Singapore 1.986
CN - Cina 1.276
VN - Vietnam 793
IT - Italia 768
BR - Brasile 617
IE - Irlanda 505
SE - Svezia 419
HK - Hong Kong 398
BD - Bangladesh 349
DE - Germania 279
FR - Francia 211
NL - Olanda 204
ZA - Sudafrica 191
TR - Turchia 174
FI - Finlandia 133
RU - Federazione Russa 101
GB - Regno Unito 89
IN - India 76
CA - Canada 67
AR - Argentina 65
AT - Austria 50
IQ - Iraq 48
JP - Giappone 44
BE - Belgio 39
MX - Messico 37
PL - Polonia 34
KR - Corea 31
ID - Indonesia 29
CO - Colombia 25
EC - Ecuador 25
PH - Filippine 24
ES - Italia 23
PK - Pakistan 23
MA - Marocco 21
UZ - Uzbekistan 20
CZ - Repubblica Ceca 19
CI - Costa d'Avorio 18
UA - Ucraina 18
VE - Venezuela 17
CL - Cile 15
KE - Kenya 15
IL - Israele 12
TH - Thailandia 12
PY - Paraguay 11
AE - Emirati Arabi Uniti 10
JO - Giordania 10
OM - Oman 10
EG - Egitto 9
PE - Perù 9
DZ - Algeria 8
SA - Arabia Saudita 8
TW - Taiwan 8
LT - Lituania 7
NP - Nepal 7
TN - Tunisia 7
AZ - Azerbaigian 6
IR - Iran 6
KZ - Kazakistan 6
SV - El Salvador 6
GT - Guatemala 5
JM - Giamaica 5
NI - Nicaragua 5
RS - Serbia 5
UY - Uruguay 5
ET - Etiopia 4
HU - Ungheria 4
TT - Trinidad e Tobago 4
AL - Albania 3
BG - Bulgaria 3
CH - Svizzera 3
CR - Costa Rica 3
DO - Repubblica Dominicana 3
HN - Honduras 3
LB - Libano 3
LV - Lettonia 3
PA - Panama 3
PR - Porto Rico 3
PT - Portogallo 3
RO - Romania 3
BH - Bahrain 2
BS - Bahamas 2
BY - Bielorussia 2
CD - Congo 2
CM - Camerun 2
CY - Cipro 2
DM - Dominica 2
GA - Gabon 2
HR - Croazia 2
LY - Libia 2
MK - Macedonia 2
MN - Mongolia 2
MY - Malesia 2
NG - Nigeria 2
NO - Norvegia 2
SC - Seychelles 2
SK - Slovacchia (Repubblica Slovacca) 2
SN - Senegal 2
SY - Repubblica araba siriana 2
AD - Andorra 1
Totale 15.256
Salva come PNG Salva come JPEG
Città #
Singapore 918
Ashburn 749
San Jose 696
Santa Clara 509
Dublin 502
Chandler 501
Hong Kong 379
Beijing 346
Dallas 322
Ho Chi Minh City 259
Council Bluffs 229
Johannesburg 181
Boardman 178
Hanoi 168
Ann Arbor 159
New York 148
Munich 142
Parma 140
Izmir 137
Dearborn 124
Lauterbourg 120
Princeton 117
Los Angeles 114
Nanjing 108
Helsinki 85
Columbus 70
Moscow 64
Wilmington 64
Milan 61
São Paulo 58
Shanghai 57
Buffalo 52
Marseille 52
The Dalles 42
Rome 40
Bologna 39
Houston 38
Shenyang 37
Vienna 37
Haiphong 36
Da Nang 34
Seattle 33
Guangzhou 32
Des Moines 30
Tokyo 30
Brussels 29
Nanchang 28
Phoenix 28
Hebei 27
Jinan 27
Toronto 27
Warsaw 27
Grafing 26
Tianjin 26
Hefei 25
Kunming 25
Atlanta 24
Jiaxing 23
Nuremberg 22
Chicago 20
Modena 20
Chennai 19
Frankfurt am Main 19
London 19
Abidjan 18
Denver 18
Tashkent 18
Baghdad 17
Bremen 17
Rio de Janeiro 17
Jakarta 16
Redondo Beach 16
San Francisco 16
Stockholm 16
Zhengzhou 15
Amsterdam 14
Belo Horizonte 14
Biên Hòa 14
Orem 14
Montreal 13
Nairobi 13
San Mateo 13
Turku 13
Woodbridge 13
Boston 12
Changsha 12
Jacksonville 12
Norwalk 12
Brasília 11
Brooklyn 11
Guarulhos 11
Mexico City 11
Seongbuk-gu 11
Turin 11
Ankara 10
Can Tho 10
Curitiba 10
Fairfield 10
Hải Dương 10
Madrid 10
Totale 9.177
Salva come PNG Salva come JPEG
Nome #
Combination of ultrasound and molecular testing in malignancy risk estimate of Bethesda category IV thyroid nodules: results from a single-institution prospective study 321
Self-Amputation of the Extra Digit in a Fetus with Polydactyly: First Ultrasound Demonstration. 243
A patient with mosaic USP9X gene variant 226
Neurofibromatosis type I and multiple myeloma coexistence: A possible link? 212
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 209
Monogenic autoinflammatory diseases with mendelian inheritance: Genes, mutations, and genotype/phenotype correlations 206
Alpha-1 antitrypsin deficiency is significantly associated with atopy in asthmatic patients 199
Impact of the rs1024611 polymorphism of ccl2 on the pathophysiology and outcome of primary myelofibrosis 192
Genetics of Darier’s Disease: New Insights into Pathogenic Mechanisms 190
Biological parameters determining the clinical outcome of autologous cultures of limbal stem cells 188
A large-scale genetic analysis reveals an autoimmune origin of idiopathic retroperitoneal fibrosis 180
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I 180
Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing 179
Unmasking selective path integration deficits inAlzheimer’s disease risk carriers 177
Spectrum of X-linked intellectual disabilities and psychiatric symptoms in a family harbouring a Xp22.12 microduplication encompassing the RPS6KA3 gene 170
Amplicon-based next-generation sequencing: An effective approach for the molecular diagnosis of epidermolysis bullosa 166
Discrimination of FCGR2B polymorphism without coamplification of FCGR2A and FCGR2C genes 165
Genetic diagnosis in neonatal-onset epilepsies: Back to the future 163
Cortical malformations and COL4A1 mutation: Three new cases 163
F7 gene variants modulate protein levels in a large cohort of patients with factor VII deficiency: Results from a genotype-phenotype study 163
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 163
Charcot-Marie-Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy 162
Patterns of novel alleles and genotype/phenotype correlations resulting from the analysis of 108 previously undetected mutations in patients affected by neurofibromatosis type I 160
Gain-of-function mutations in DNMT3A in patients with paraganglioma 159
Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1. 153
Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing 153
A case series of non-small cell lung cancer patients with EGFR or HER2 exon 20 insertion in Li Fraumeni syndrome 152
Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer 150
Age-specific risk of fetal loss post second trimester amniocentesis: Analysis of 5043 cases 147
Circadian variations of epithelial cell proliferation in human rectal crypts 144
Survival analysis in families affected by hereditary non-polyposis colorectal cancer 143
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study 134
K-ras and p53 mutations in hereditary non-polyposis colorectal cancers 132
Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory 127
Genomic instability and target gene mutations in colon cancers with different degrees of allelic shifts 127
Pure Parkinsonism as Possible Phenotype Expansion of THAP1-Related Disorders 126
Clinical and genetic findings in a series of eight families with arthrogryposis 126
Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans 124
A new MEFV gene mutation in an Iranian patient with familial Mediterranean fever 123
Cerebral aneurysms and kidney disease in a child with microcephalic osteodysplastic primordial dwarfism type II: novel homozygous mutation in the PCNT gene 122
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa 120
The “cortical invagination sign”: a midtrimester sonographic marker of unilateral cortical focal dysgyria in fetuses with complete agenesis of the corpus callosum 120
Hypomelanosis of Ito with a trisomy 2 mosaicism: a case report 120
A 12.4 Mb direct duplication in 19q12-q13 in a boy with cardiac and CNS malformations and developmental delay 120
Phenotypic Expansion of Autosomal Dominant LZTR1-Related Disorders with Special Emphasis on Adult-Onset Features 119
Clinical and biologic heterogeneity of hereditary nonpolyposis colorectal cancer 119
Severe hypertrophic cardiomyopathy in a patient with a homozygous MYH7 gene variant 118
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 117
A two-locus model for hereditary non-polyposis colorectal cancer in Modena, Italy 115
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders 114
Mutation screening of the Otop1 gene in familial benign positional paroxysmal vertigo 113
MLH1 and MSH2 constitutional mutations in colorectal cancer families not meeting the standard criteria for hereditary nonpolyposis colorectal cancer 111
Genes and translocations involved in POF 111
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 111
SHOX point mutations and deletions in Leri-Weill dyschondrosteosis 109
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 109
ANCA-Associated Vasculitis 109
Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond 108
A syndromic form of pierre robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX 108
The homozygous deletion of the 3′ enhancer of the SHOX gene causes Langer mesomelic dysplasia [3] 108
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis 108
Mismatch repair genes and mononucleotide tracts as mutation targets in colorectal tumors with different degrees of microsatellite instability 102
Methylation pattern of different regions of the MLH1 promoter and silencing of gene expression in hereditary and sporadic colorectal cancer 102
Colorectal carcinoma in different age groups: A population-based investigation 101
Structural chromosomal abnormalities detected during CVS analysis and their role in the prenatal ascertainment of cryptic subtelomeric rearrangements 100
Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review 100
Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease 98
The I1307K polymorphism of the APC gene in colorectal cancer 98
SCN5A mutation is associated with a higher Shanghai Score in patients with type 1 Brugada ECG pattern 96
Muir–Torre syndrome or phenocopy? The value of the immunohistochemical expression of mismatch repair proteins in sebaceous tumors of immunocompromised patients 96
Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination 95
Familial Beckwith-Wiedemann syndrome due to CDKN1C mutation manifesting with recurring omphalocele 95
Prospective assessment of NGS-detectable mutations in CML patients with nonoptimal response: the NEXT-in-CML study 93
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 93
Clinical and molecular diagnosis of hereditary non-polyposis colorectal cancer: Problems and pitfalls in an extended pedigree 92
Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis 92
Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: A multivariate analysis 91
MicroRNA Expression in Malignant Pleural Mesothelioma and Asbestosis: A Pilot Study 91
Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, malik-percin type 90
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 89
Pathogenesis of colorectal cancer 89
Incidence of non-age-dependent chromosomal abnormalities: A population-based study on 88965 amniocenteses 89
Phenotype-genotype correlations in an extended family with adenomatosis coli and an unusual APC gene mutation 88
The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability [3] 88
New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: A genotype/auditory phenotype correlation 87
Facioscapulohumeral muscular dystrophy: New insights from compound heterozygotes and implication for prenatal genetic counselling 85
Clinical features, frequency and prognosis of Dukes' A colorectal carcinoma: A population-based investigation 83
Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations 82
Reverse phenotyping comes of age 82
Clinical and biomolecular identification of hereditary non-polyposis colorectal cancer 82
Pre- and post-natal growth in two sisters with 3-M syndrome 82
Two journeys, one diagnosis: exploring the clinical outcomes of twins with congenital myopathy 82
Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester 81
The effect of carriers’ reproductive choices and pregnancy history on sporadic severe haemophilia: A 20-year retrospective study through a regional registry 81
Exome sequencing in a patient with Catele-Manzke-like syndrome excludes the involvement of the known genes and reveals a possible candidate 80
Frequency and type of colorectal tumors in asymptomatic high-risk individuals in families with hereditary nonpolyposis colorectal cancer 80
Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study 79
Recurrent germline mutation in MSH2 arises frequently de novo 79
Staging and survival of colorectal cancer: Are we making progress? The 14-year experience of a specialized cancer Registry 79
Non-invasive first trimester fetal gender assignment in pregnancies at risk for X-linked recessive diseases 78
Totale 12.576
Salva come PNG Salva come JPEG
Categoria #
all - tutte 58.882
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 58.882
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022435 0 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
2025/20267.082 632 530 822 674 902 377 704 208 868 480 504 381
2026/2027490 242 248 0 0 0 0 0 0 0 0 0 0
Totale 15.486