IRIS
PERCESEPE, Antonio
 Distribuzione geografica
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Continente #
NA - Nord America 5.467
AS - Asia 5.345
EU - Europa 2.882
SA - Sud America 786
AF - Africa 286
Continente sconosciuto - Info sul continente non disponibili 2
OC - Oceania 2
Totale 14.770
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Nazione #
US - Stati Uniti d'America 5.327
SG - Singapore 1.980
CN - Cina 1.270
VN - Vietnam 787
IT - Italia 717
BR - Brasile 615
IE - Irlanda 504
SE - Svezia 419
HK - Hong Kong 396
BD - Bangladesh 330
DE - Germania 278
FR - Francia 209
NL - Olanda 204
ZA - Sudafrica 191
TR - Turchia 173
FI - Finlandia 133
RU - Federazione Russa 101
GB - Regno Unito 89
IN - India 76
AR - Argentina 65
CA - Canada 63
AT - Austria 50
IQ - Iraq 48
JP - Giappone 44
BE - Belgio 39
MX - Messico 36
PL - Polonia 34
KR - Corea 31
ID - Indonesia 29
EC - Ecuador 25
CO - Colombia 23
PH - Filippine 23
PK - Pakistan 23
ES - Italia 22
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
GT - Guatemala 5
RS - Serbia 5
UY - Uruguay 5
ET - Etiopia 4
NI - Nicaragua 4
TT - Trinidad e Tobago 4
AL - Albania 3
BG - Bulgaria 3
CH - Svizzera 3
CR - Costa Rica 3
DO - Repubblica Dominicana 3
HU - Ungheria 3
JM - Giamaica 3
LB - Libano 3
LV - Lettonia 3
PA - Panama 3
RO - Romania 3
SV - El Salvador 3
BH - Bahrain 2
BS - Bahamas 2
BY - Bielorussia 2
CD - Congo 2
CM - Camerun 2
DM - Dominica 2
GA - Gabon 2
HN - Honduras 2
HR - Croazia 2
LY - Libia 2
MK - Macedonia 2
MN - Mongolia 2
MY - Malesia 2
NG - Nigeria 2
NO - Norvegia 2
PR - Porto Rico 2
PT - Portogallo 2
SN - Senegal 2
SY - Repubblica araba siriana 2
AD - Andorra 1
AF - Afghanistan, Repubblica islamica di 1
AU - Australia 1
BB - Barbados 1
Totale 14.748
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Città #
Singapore 916
Ashburn 725
San Jose 642
Dublin 502
Chandler 501
Santa Clara 500
Hong Kong 378
Beijing 344
Dallas 318
Ho Chi Minh City 255
Johannesburg 181
Boardman 178
Hanoi 168
Ann Arbor 159
New York 146
Munich 142
Parma 139
Izmir 137
Dearborn 124
Lauterbourg 120
Princeton 117
Los Angeles 111
Nanjing 108
Helsinki 85
Columbus 69
Moscow 64
Wilmington 64
São Paulo 57
Shanghai 56
Marseille 52
Buffalo 50
Milan 47
Council Bluffs 45
The Dalles 42
Bologna 38
Houston 38
Shenyang 37
Vienna 37
Haiphong 36
Da Nang 34
Seattle 33
Guangzhou 32
Des Moines 30
Tokyo 30
Brussels 29
Rome 29
Nanchang 28
Hebei 27
Jinan 27
Toronto 27
Warsaw 27
Grafing 26
Tianjin 26
Hefei 25
Kunming 25
Jiaxing 23
Nuremberg 22
Phoenix 21
Modena 20
Atlanta 19
Chennai 19
London 19
Abidjan 18
Denver 18
Frankfurt am Main 18
Tashkent 18
Baghdad 17
Bremen 17
Chicago 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
Changsha 12
Jacksonville 12
Norwalk 12
Boston 11
Brasília 11
Brooklyn 11
Guarulhos 11
Seongbuk-gu 11
Can Tho 10
Curitiba 10
Fairfield 10
Hải Dương 10
Madrid 10
Manchester 10
Mexico City 10
Mumbai 10
Totale 8.837
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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 313
Self-Amputation of the Extra Digit in a Fetus with Polydactyly: First Ultrasound Demonstration. 241
A patient with mosaic USP9X gene variant 220
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 208
Monogenic autoinflammatory diseases with mendelian inheritance: Genes, mutations, and genotype/phenotype correlations 204
Neurofibromatosis type I and multiple myeloma coexistence: A possible link? 203
Alpha-1 antitrypsin deficiency is significantly associated with atopy in asthmatic patients 196
Impact of the rs1024611 polymorphism of ccl2 on the pathophysiology and outcome of primary myelofibrosis 187
Biological parameters determining the clinical outcome of autologous cultures of limbal stem cells 186
A large-scale genetic analysis reveals an autoimmune origin of idiopathic retroperitoneal fibrosis 178
Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing 178
Unmasking selective path integration deficits inAlzheimer’s disease risk carriers 175
Spectrum of X-linked intellectual disabilities and psychiatric symptoms in a family harbouring a Xp22.12 microduplication encompassing the RPS6KA3 gene 169
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I 169
Amplicon-based next-generation sequencing: An effective approach for the molecular diagnosis of epidermolysis bullosa 165
Discrimination of FCGR2B polymorphism without coamplification of FCGR2A and FCGR2C genes 164
Genetics of Darier’s Disease: New Insights into Pathogenic Mechanisms 162
Genetic diagnosis in neonatal-onset epilepsies: Back to the future 162
F7 gene variants modulate protein levels in a large cohort of patients with factor VII deficiency: Results from a genotype-phenotype study 162
Charcot-Marie-Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy 161
Cortical malformations and COL4A1 mutation: Three new cases 161
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
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 159
Gain-of-function mutations in DNMT3A in patients with paraganglioma 157
Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1. 152
Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing 150
Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer 148
Age-specific risk of fetal loss post second trimester amniocentesis: Analysis of 5043 cases 144
Circadian variations of epithelial cell proliferation in human rectal crypts 143
Survival analysis in families affected by hereditary non-polyposis colorectal cancer 141
A case series of non-small cell lung cancer patients with EGFR or HER2 exon 20 insertion in Li Fraumeni syndrome 134
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study 132
K-ras and p53 mutations in hereditary non-polyposis colorectal cancers 130
Genomic instability and target gene mutations in colon cancers with different degrees of allelic shifts 125
Clinical and genetic findings in a series of eight families with arthrogryposis 125
Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory 124
A new MEFV gene mutation in an Iranian patient with familial Mediterranean fever 122
Pure Parkinsonism as Possible Phenotype Expansion of THAP1-Related Disorders 120
Hypomelanosis of Ito with a trisomy 2 mosaicism: a case report 118
Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans 118
Clinical and biologic heterogeneity of hereditary nonpolyposis colorectal cancer 117
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa 116
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 116
Severe hypertrophic cardiomyopathy in a patient with a homozygous MYH7 gene variant 115
Phenotypic Expansion of Autosomal Dominant LZTR1-Related Disorders with Special Emphasis on Adult-Onset Features 115
A 12.4 Mb direct duplication in 19q12-q13 in a boy with cardiac and CNS malformations and developmental delay 115
Cerebral aneurysms and kidney disease in a child with microcephalic osteodysplastic primordial dwarfism type II: novel homozygous mutation in the PCNT gene 114
The “cortical invagination sign”: a midtrimester sonographic marker of unilateral cortical focal dysgyria in fetuses with complete agenesis of the corpus callosum 113
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders 113
Mutation screening of the Otop1 gene in familial benign positional paroxysmal vertigo 111
A two-locus model for hereditary non-polyposis colorectal cancer in Modena, Italy 110
MLH1 and MSH2 constitutional mutations in colorectal cancer families not meeting the standard criteria for hereditary nonpolyposis colorectal cancer 109
Genes and translocations involved in POF 108
Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond 107
A syndromic form of pierre robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX 107
SHOX point mutations and deletions in Leri-Weill dyschondrosteosis 107
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis 107
ANCA-Associated Vasculitis 107
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 107
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 106
The homozygous deletion of the 3′ enhancer of the SHOX gene causes Langer mesomelic dysplasia [3] 104
Mismatch repair genes and mononucleotide tracts as mutation targets in colorectal tumors with different degrees of microsatellite instability 100
Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review 99
Structural chromosomal abnormalities detected during CVS analysis and their role in the prenatal ascertainment of cryptic subtelomeric rearrangements 98
Colorectal carcinoma in different age groups: A population-based investigation 98
Methylation pattern of different regions of the MLH1 promoter and silencing of gene expression in hereditary and sporadic colorectal cancer 98
The I1307K polymorphism of the APC gene in colorectal cancer 97
Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease 96
SCN5A mutation is associated with a higher Shanghai Score in patients with type 1 Brugada ECG pattern 94
Muir–Torre syndrome or phenocopy? The value of the immunohistochemical expression of mismatch repair proteins in sebaceous tumors of immunocompromised patients 94
Prospective assessment of NGS-detectable mutations in CML patients with nonoptimal response: the NEXT-in-CML study 91
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 91
Familial Beckwith-Wiedemann syndrome due to CDKN1C mutation manifesting with recurring omphalocele 91
Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: A multivariate analysis 91
Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis 91
MicroRNA Expression in Malignant Pleural Mesothelioma and Asbestosis: A Pilot Study 91
Clinical and molecular diagnosis of hereditary non-polyposis colorectal cancer: Problems and pitfalls in an extended pedigree 90
Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination 89
Incidence of non-age-dependent chromosomal abnormalities: A population-based study on 88965 amniocenteses 87
Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, malik-percin type 87
Pathogenesis of colorectal cancer 86
New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: A genotype/auditory phenotype correlation 85
Phenotype-genotype correlations in an extended family with adenomatosis coli and an unusual APC gene mutation 85
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 84
Facioscapulohumeral muscular dystrophy: New insights from compound heterozygotes and implication for prenatal genetic counselling 84
The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability [3] 83
Clinical features, frequency and prognosis of Dukes' A colorectal carcinoma: A population-based investigation 81
Clinical and biomolecular identification of hereditary non-polyposis colorectal cancer 81
Reverse phenotyping comes of age 79
Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester 78
Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations 78
Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome 77
Pure segmental trisomy 1q42-qter in a boy with a severe phenotype [1] 77
Frequency and type of colorectal tumors in asymptomatic high-risk individuals in families with hereditary nonpolyposis colorectal cancer 77
Pre- and post-natal growth in two sisters with 3-M syndrome 77
Prenatal diagnosis and postnatal follow-up of a child with mosaic trisomy 22 with several levels of mosaicism in different tissues 76
OrphanAnesthesia - A common project of the Scientific Working Group of Paediatric Anaesthesia of the German Society of Anaesthesiology and Intensive Care Medicine 76
Two journeys, one diagnosis: exploring the clinical outcomes of twins with congenital myopathy 76
Recurrent germline mutation in MSH2 arises frequently de novo 75
The effect of family size on estimates of the frequency of hereditary non-polyposis colorectal cancer 75
Totale 12.253
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Categoria #
all - tutte 55.546
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 55.546
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202125 0 0 0 0 0 0 0 0 0 0 0 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
2025/20267.063 632 530 822 674 902 377 704 208 868 480 504 362
Totale 14.977