IRIS
PERCESEPE, Antonio
 Distribuzione geografica
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Continente #
NA - Nord America 2.283
EU - Europa 1.700
AS - Asia 1.291
AF - Africa 16
SA - Sud America 7
Continente sconosciuto - Info sul continente non disponibili 1
Totale 5.298
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Nazione #
US - Stati Uniti d'America 2.272
CN - Cina 666
IE - Irlanda 501
SG - Singapore 447
SE - Svezia 403
IT - Italia 372
TR - Turchia 139
DE - Germania 98
FR - Francia 69
FI - Finlandia 66
NL - Olanda 41
BE - Belgio 35
AT - Austria 27
GB - Regno Unito 25
CI - Costa d'Avorio 15
CZ - Repubblica Ceca 15
KR - Corea 13
UA - Ucraina 12
CA - Canada 8
PL - Polonia 8
BR - Brasile 6
IN - India 6
JP - Giappone 5
ES - Italia 4
CH - Svizzera 3
HK - Hong Kong 3
RO - Romania 3
RS - Serbia 3
RU - Federazione Russa 3
HU - Ungheria 2
IL - Israele 2
KZ - Kazakistan 2
LT - Lituania 2
MK - Macedonia 2
MX - Messico 2
SA - Arabia Saudita 2
VN - Vietnam 2
AR - Argentina 1
BG - Bulgaria 1
BS - Bahamas 1
EG - Egitto 1
EU - Europa 1
GR - Grecia 1
ID - Indonesia 1
KH - Cambogia 1
LV - Lettonia 1
MO - Macao, regione amministrativa speciale della Cina 1
MT - Malta 1
NO - Norvegia 1
PT - Portogallo 1
UZ - Uzbekistan 1
Totale 5.298
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Città #
Chandler 501
Dublin 499
Singapore 331
Beijing 171
Ashburn 168
Ann Arbor 159
Boardman 155
Izmir 136
Dearborn 124
Princeton 117
Parma 110
Nanjing 107
Wilmington 64
New York 61
Marseille 52
Shanghai 45
Helsinki 36
Shenyang 35
Des Moines 29
Bologna 28
Nanchang 28
Brussels 27
Hebei 27
Grafing 26
Houston 25
Jinan 25
Santa Clara 25
Guangzhou 24
Kunming 24
Seattle 24
Vienna 24
Jiaxing 23
Bremen 17
Milan 17
Tianjin 16
Abidjan 15
Los Angeles 15
Munich 15
San Mateo 13
Woodbridge 13
Zhengzhou 13
Modena 12
Norwalk 12
Changsha 11
Hefei 11
Jacksonville 11
Seongbuk-gu 11
Fairfield 10
Fremont 9
Redwood City 8
Verona 8
Waanrode 8
Dallas 7
Köln 7
Ravenna 7
Arzignano 6
Fuzhou 6
Rome 6
Washington 6
Amsterdam 5
Borås 5
Brescia 5
Cornaredo 5
Falls Church 5
La Spezia 5
London 5
Pune 5
Saint Louis 5
Simi Valley 5
Taiyuan 5
Ansbach 4
Ardea 4
Bergamo 4
Brno 4
Capo di Ponte 4
Cascina 4
Chengdu 4
Chicago 4
Dronten 4
Frankfurt am Main 4
Haikou 4
Hangzhou 4
Madrid 4
Ningbo 4
Reggio Emilia 4
Reggio Nell'emilia 4
Toronto 4
Warsaw 4
Belgrade 3
Capannori 3
Cologno al Serio 3
Düsseldorf 3
Formigine 3
Groningen 3
Huizen 3
Manchester 3
Neviano degli Arduini 3
Paris 3
Prineville 3
Rio Saliceto 3
Totale 3.683
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Nome #
Self-Amputation of the Extra Digit in a Fetus with Polydactyly: First Ultrasound Demonstration. 140
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 114
Monogenic autoinflammatory diseases with mendelian inheritance: Genes, mutations, and genotype/phenotype correlations 104
Neurofibromatosis type I and multiple myeloma coexistence: A possible link? 102
Alpha-1 antitrypsin deficiency is significantly associated with atopy in asthmatic patients 89
Spectrum of X-linked intellectual disabilities and psychiatric symptoms in a family harbouring a Xp22.12 microduplication encompassing the RPS6KA3 gene 87
Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing 84
Combination of ultrasound and molecular testing in malignancy risk estimate of Bethesda category IV thyroid nodules: results from a single-institution prospective study 84
Unmasking selective path integration deficits inAlzheimer’s disease risk carriers 81
Impact of the rs1024611 polymorphism of ccl2 on the pathophysiology and outcome of primary myelofibrosis 81
Discrimination of FCGR2B polymorphism without coamplification of FCGR2A and FCGR2C genes 78
Cortical malformations and COL4A1 mutation: Three new cases 77
F7 gene variants modulate protein levels in a large cohort of patients with factor VII deficiency: Results from a genotype-phenotype study 73
Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans 68
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I 68
Genetic diagnosis in neonatal-onset epilepsies: Back to the future 66
The homozygous deletion of the 3′ enhancer of the SHOX gene causes Langer mesomelic dysplasia [3] 65
A large-scale genetic analysis reveals an autoimmune origin of idiopathic retroperitoneal fibrosis 64
Age-specific risk of fetal loss post second trimester amniocentesis: Analysis of 5043 cases 64
Patterns of novel alleles and genotype/phenotype correlations resulting from the analysis of 108 previously undetected mutations in patients affected by neurofibromatosis type I 64
Amplicon-based next-generation sequencing: An effective approach for the molecular diagnosis of epidermolysis bullosa 63
SHOX point mutations and deletions in Leri-Weill dyschondrosteosis 61
Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer 61
Biological parameters determining the clinical outcome of autologous cultures of limbal stem cells 59
Survival analysis in families affected by hereditary non-polyposis colorectal cancer 55
Structural chromosomal abnormalities detected during CVS analysis and their role in the prenatal ascertainment of cryptic subtelomeric rearrangements 54
Clinical and biologic heterogeneity of hereditary nonpolyposis colorectal cancer 54
Hypomelanosis of Ito with a trisomy 2 mosaicism: a case report 53
A syndromic form of pierre robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX 53
Genomic instability and target gene mutations in colon cancers with different degrees of allelic shifts 53
K-ras and p53 mutations in hereditary non-polyposis colorectal cancers 52
Mutation screening of the Otop1 gene in familial benign positional paroxysmal vertigo 51
Gain-of-function mutations in DNMT3A in patients with paraganglioma 51
A new MEFV gene mutation in an Iranian patient with familial Mediterranean fever 49
Muir–Torre syndrome or phenocopy? The value of the immunohistochemical expression of mismatch repair proteins in sebaceous tumors of immunocompromised patients 48
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 48
A 12.4 Mb direct duplication in 19q12-q13 in a boy with cardiac and CNS malformations and developmental delay 47
The I1307K polymorphism of the APC gene in colorectal cancer 47
Circadian variations of epithelial cell proliferation in human rectal crypts 46
Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome 46
Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, malik-percin type 46
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis 46
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 45
Colorectal carcinoma in different age groups: A population-based investigation 45
A patient with mosaic USP9X gene variant 43
Facioscapulohumeral muscular dystrophy: New insights from compound heterozygotes and implication for prenatal genetic counselling 43
Pure segmental trisomy 1q42-qter in a boy with a severe phenotype [1] 43
Clinical and molecular diagnosis of hereditary non-polyposis colorectal cancer: Problems and pitfalls in an extended pedigree 42
Holoprosencephaly: Report of four cases and genotype-phenotype correlations 42
The effect of family size on estimates of the frequency of hereditary non-polyposis colorectal cancer 42
Reverse phenotyping comes of age 42
Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: A multivariate analysis 42
Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis 42
MLH1 and MSH2 constitutional mutations in colorectal cancer families not meeting the standard criteria for hereditary nonpolyposis colorectal cancer 41
Incidence of non-age-dependent chromosomal abnormalities: A population-based study on 88965 amniocenteses 40
Clinical and biomolecular identification of hereditary non-polyposis colorectal cancer 40
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders 40
Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing 40
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 39
Early diagnosis of branchio-oculo-facial syndrome in a patient with inner ear malformation and mild ocular involvement 38
Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review 38
Clinical and genetic findings in a series of eight families with arthrogryposis 38
The effect of carriers’ reproductive choices and pregnancy history on sporadic severe haemophilia: A 20-year retrospective study through a regional registry 38
Severe hypertrophic cardiomyopathy in a patient with a homozygous MYH7 gene variant 37
Frequency and clinical features of multiple tumors of the large bowel in the general population and in patients with hereditary colorectal carcinoma 37
Prospective assessment of NGS-detectable mutations in CML patients with nonoptimal response: the NEXT-in-CML study 37
Mismatch repair genes and mononucleotide tracts as mutation targets in colorectal tumors with different degrees of microsatellite instability 37
MicroRNA Expression in Malignant Pleural Mesothelioma and Asbestosis: A Pilot Study 37
Non-invasive first trimester fetal gender assignment in pregnancies at risk for X-linked recessive diseases 36
Exome sequencing in a patient with Catele-Manzke-like syndrome excludes the involvement of the known genes and reveals a possible candidate 36
Familial Beckwith-Wiedemann syndrome due to CDKN1C mutation manifesting with recurring omphalocele 36
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 36
New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: A genotype/auditory phenotype correlation 35
Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination 35
Prenatal diagnosis and postnatal follow-up of a child with mosaic trisomy 22 with several levels of mosaicism in different tissues 35
Methylation pattern of different regions of the MLH1 promoter and silencing of gene expression in hereditary and sporadic colorectal cancer 35
OrphanAnesthesia - A common project of the Scientific Working Group of Paediatric Anaesthesia of the German Society of Anaesthesiology and Intensive Care Medicine 35
Pathogenesis of colorectal cancer 34
Recurrent germline mutation in MSH2 arises frequently de novo 34
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 34
Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester 33
Phenotype-genotype correlations in an extended family with adenomatosis coli and an unusual APC gene mutation 33
Genes and translocations involved in POF 32
Fenotipo lieve di sordità neurosensoriale e cheratoderma palmo-plantare causato da una nuova mutazione dominante di GJB2 31
Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations 31
First-trimester ultrasonographic diagnosis of Langer mesomelic dysplasia in a previously affected family 31
A two-locus model for hereditary non-polyposis colorectal cancer in Modena, Italy 31
The role of hPMS1 and hPMS2 in predisposing to colorectal cancer 31
Clinical features, frequency and prognosis of Dukes' A colorectal carcinoma: A population-based investigation 31
Multimodal molecular screening is required to improve the sensitivity of MLH1 and MSH2 mutation analysis [2] (multiple letters) 30
Collection of Italian hereditary non-polyposis colorectal cancer (HNPCC) pedigrees 30
Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease 30
Charcot-Marie-Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy 29
Cowden’s disease with extensive gastrointestinal polyposis 29
FCGR3B polymorphism predicts relapse risk in eosinophilic granulomatosis with polyangiitis 29
The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability [3] 29
ANCA-Associated Vasculitis 29
Fattori ereditari nei tumori dell'apparato digerente 28
Molecular screening for hereditary nonpolyposis colorectal cancer: A prospective, population-based study 27
Clinical features and genotype-phenotype correlations in 41 Italian families with adenomatosis coli 26
Totale 4.865
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Categoria #
all - tutte 27.349
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 27.349
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020506 0 0 0 0 50 139 53 28 107 73 46 10
2020/2021287 11 5 15 21 66 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
2024/2025838 40 213 201 234 150 0 0 0 0 0 0 0
Totale 5.487