IRIS
PERCESEPE, Antonio
 Distribuzione geografica
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Continente #
NA - Nord America 2.054
EU - Europa 1.553
AS - Asia 941
AF - Africa 15
Continente sconosciuto - Info sul continente non disponibili 1
Totale 4.564
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Nazione #
US - Stati Uniti d'America 2.046
CN - Cina 640
IE - Irlanda 500
SE - Svezia 403
IT - Italia 316
TR - Turchia 138
SG - Singapore 129
DE - Germania 83
FI - Finlandia 65
NL - Olanda 40
BE - Belgio 34
AT - Austria 26
FR - Francia 17
CI - Costa d'Avorio 15
CZ - Repubblica Ceca 15
GB - Regno Unito 14
KR - Corea 13
UA - Ucraina 12
PL - Polonia 7
IN - India 6
CA - Canada 5
JP - Giappone 5
ES - Italia 3
RO - Romania 3
RS - Serbia 3
RU - Federazione Russa 3
HK - Hong Kong 2
HU - Ungheria 2
IL - Israele 2
MK - Macedonia 2
MX - Messico 2
VN - Vietnam 2
BG - Bulgaria 1
BS - Bahamas 1
EU - Europa 1
GR - Grecia 1
ID - Indonesia 1
KH - Cambogia 1
KZ - Kazakistan 1
MO - Macao, regione amministrativa speciale della Cina 1
MT - Malta 1
NO - Norvegia 1
PT - Portogallo 1
Totale 4.564
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Città #
Chandler 501
Dublin 498
Ashburn 167
Beijing 167
Ann Arbor 159
Izmir 136
Dearborn 124
Princeton 117
Nanjing 107
Parma 99
Singapore 70
Wilmington 64
New York 61
Shanghai 45
Helsinki 35
Shenyang 34
Des Moines 29
Nanchang 28
Hebei 27
Brussels 26
Grafing 26
Houston 25
Jinan 25
Guangzhou 24
Kunming 24
Seattle 24
Boardman 23
Jiaxing 23
Vienna 23
Bremen 17
Tianjin 16
Abidjan 15
Bologna 14
San Mateo 13
Woodbridge 13
Los Angeles 12
Norwalk 12
Zhengzhou 12
Changsha 11
Hefei 11
Jacksonville 11
Milan 11
Seongbuk-gu 11
Fairfield 10
Modena 10
Fremont 9
Redwood City 8
Waanrode 8
Dallas 7
Köln 7
Ravenna 7
Arzignano 6
Fuzhou 6
Rome 6
Washington 6
Borås 5
Brescia 5
Cornaredo 5
Falls Church 5
La Spezia 5
Pune 5
Saint Louis 5
Simi Valley 5
Taiyuan 5
Verona 5
Amsterdam 4
Ansbach 4
Ardea 4
Bergamo 4
Brno 4
Capo di Ponte 4
Cascina 4
Chicago 4
Dronten 4
Haikou 4
Hangzhou 4
Munich 4
Reggio Emilia 4
Reggio Nell'emilia 4
Belgrade 3
Capannori 3
Chengdu 3
Düsseldorf 3
Formigine 3
Groningen 3
Huizen 3
Madrid 3
Manchester 3
Neviano degli Arduini 3
Ningbo 3
Paris 3
Rio Saliceto 3
Tappahannock 3
Vigevano 3
Warsaw 3
Altamura 2
Baotou 2
Bizzarone 2
Budapest 2
Casalmaggiore 2
Totale 3.144
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Nome #
Self-Amputation of the Extra Digit in a Fetus with Polydactyly: First Ultrasound Demonstration. 131
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 106
Neurofibromatosis type I and multiple myeloma coexistence: A possible link? 91
Alpha-1 antitrypsin deficiency is significantly associated with atopy in asthmatic patients 82
Monogenic autoinflammatory diseases with mendelian inheritance: Genes, mutations, and genotype/phenotype correlations 81
Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing 80
Spectrum of X-linked intellectual disabilities and psychiatric symptoms in a family harbouring a Xp22.12 microduplication encompassing the RPS6KA3 gene 79
Impact of the rs1024611 polymorphism of ccl2 on the pathophysiology and outcome of primary myelofibrosis 76
Combination of ultrasound and molecular testing in malignancy risk estimate of Bethesda category IV thyroid nodules: results from a single-institution prospective study 74
Cortical malformations and COL4A1 mutation: Three new cases 73
Discrimination of FCGR2B polymorphism without coamplification of FCGR2A and FCGR2C genes 73
Unmasking selective path integration deficits inAlzheimer’s disease risk carriers 72
Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans 60
Age-specific risk of fetal loss post second trimester amniocentesis: Analysis of 5043 cases 60
Genetic diagnosis in neonatal-onset epilepsies: Back to the future 59
SHOX point mutations and deletions in Leri-Weill dyschondrosteosis 58
The homozygous deletion of the 3′ enhancer of the SHOX gene causes Langer mesomelic dysplasia [3] 57
A large-scale genetic analysis reveals an autoimmune origin of idiopathic retroperitoneal fibrosis 57
Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer 55
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I 54
Amplicon-based next-generation sequencing: An effective approach for the molecular diagnosis of epidermolysis bullosa 53
Patterns of novel alleles and genotype/phenotype correlations resulting from the analysis of 108 previously undetected mutations in patients affected by neurofibromatosis type I 53
Biological parameters determining the clinical outcome of autologous cultures of limbal stem cells 51
A syndromic form of pierre robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX 50
Structural chromosomal abnormalities detected during CVS analysis and their role in the prenatal ascertainment of cryptic subtelomeric rearrangements 49
Hypomelanosis of Ito with a trisomy 2 mosaicism: a case report 48
Mutation screening of the Otop1 gene in familial benign positional paroxysmal vertigo 48
Survival analysis in families affected by hereditary non-polyposis colorectal cancer 47
Clinical and biologic heterogeneity of hereditary nonpolyposis colorectal cancer 47
K-ras and p53 mutations in hereditary non-polyposis colorectal cancers 46
F7 gene variants modulate protein levels in a large cohort of patients with factor VII deficiency: Results from a genotype-phenotype study 46
Muir–Torre syndrome or phenocopy? The value of the immunohistochemical expression of mismatch repair proteins in sebaceous tumors of immunocompromised patients 45
Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome 44
Genomic instability and target gene mutations in colon cancers with different degrees of allelic shifts 44
A new MEFV gene mutation in an Iranian patient with familial Mediterranean fever 44
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 44
Gain-of-function mutations in DNMT3A in patients with paraganglioma 44
A 12.4 Mb direct duplication in 19q12-q13 in a boy with cardiac and CNS malformations and developmental delay 43
Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, malik-percin type 43
The I1307K polymorphism of the APC gene in colorectal cancer 43
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis 42
Colorectal carcinoma in different age groups: A population-based investigation 41
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 40
Holoprosencephaly: Report of four cases and genotype-phenotype correlations 40
Pure segmental trisomy 1q42-qter in a boy with a severe phenotype [1] 40
Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis 40
Circadian variations of epithelial cell proliferation in human rectal crypts 39
Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: A multivariate analysis 39
A patient with mosaic USP9X gene variant 38
Clinical and molecular diagnosis of hereditary non-polyposis colorectal cancer: Problems and pitfalls in an extended pedigree 38
Facioscapulohumeral muscular dystrophy: New insights from compound heterozygotes and implication for prenatal genetic counselling 38
Reverse phenotyping comes of age 38
The effect of family size on estimates of the frequency of hereditary non-polyposis colorectal cancer 37
Clinical and biomolecular identification of hereditary non-polyposis colorectal cancer 37
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders 37
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 36
The effect of carriers’ reproductive choices and pregnancy history on sporadic severe haemophilia: A 20-year retrospective study through a regional registry 36
Early diagnosis of branchio-oculo-facial syndrome in a patient with inner ear malformation and mild ocular involvement 35
Prospective assessment of NGS-detectable mutations in CML patients with nonoptimal response: the NEXT-in-CML study 35
MicroRNA Expression in Malignant Pleural Mesothelioma and Asbestosis: A Pilot Study 35
Incidence of non-age-dependent chromosomal abnormalities: A population-based study on 88965 amniocenteses 34
MLH1 and MSH2 constitutional mutations in colorectal cancer families not meeting the standard criteria for hereditary nonpolyposis colorectal cancer 34
Frequency and clinical features of multiple tumors of the large bowel in the general population and in patients with hereditary colorectal carcinoma 34
Familial Beckwith-Wiedemann syndrome due to CDKN1C mutation manifesting with recurring omphalocele 34
Mismatch repair genes and mononucleotide tracts as mutation targets in colorectal tumors with different degrees of microsatellite instability 34
Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review 34
Clinical and genetic findings in a series of eight families with arthrogryposis 34
Exome sequencing in a patient with Catele-Manzke-like syndrome excludes the involvement of the known genes and reveals a possible candidate 33
New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: A genotype/auditory phenotype correlation 31
Non-invasive first trimester fetal gender assignment in pregnancies at risk for X-linked recessive diseases 31
Prenatal diagnosis and postnatal follow-up of a child with mosaic trisomy 22 with several levels of mosaicism in different tissues 31
Pathogenesis of colorectal cancer 30
Recurrent germline mutation in MSH2 arises frequently de novo 30
Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester 30
Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination 30
Phenotype-genotype correlations in an extended family with adenomatosis coli and an unusual APC gene mutation 30
Methylation pattern of different regions of the MLH1 promoter and silencing of gene expression in hereditary and sporadic colorectal cancer 30
Genes and translocations involved in POF 30
OrphanAnesthesia - A common project of the Scientific Working Group of Paediatric Anaesthesia of the German Society of Anaesthesiology and Intensive Care Medicine 30
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 30
First-trimester ultrasonographic diagnosis of Langer mesomelic dysplasia in a previously affected family 29
Severe hypertrophic cardiomyopathy in a patient with a homozygous MYH7 gene variant 28
Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations 28
Clinical features, frequency and prognosis of Dukes' A colorectal carcinoma: A population-based investigation 28
Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing 28
Multimodal molecular screening is required to improve the sensitivity of MLH1 and MSH2 mutation analysis [2] (multiple letters) 27
Collection of Italian hereditary non-polyposis colorectal cancer (HNPCC) pedigrees 26
Fenotipo lieve di sordità neurosensoriale e cheratoderma palmo-plantare causato da una nuova mutazione dominante di GJB2 26
FCGR3B polymorphism predicts relapse risk in eosinophilic granulomatosis with polyangiitis 26
The role of hPMS1 and hPMS2 in predisposing to colorectal cancer 26
The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability [3] 26
Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease 26
Cowden’s disease with extensive gastrointestinal polyposis 25
A two-locus model for hereditary non-polyposis colorectal cancer in Modena, Italy 25
Molecular screening for hereditary nonpolyposis colorectal cancer: A prospective, population-based study 25
Fattori ereditari nei tumori dell'apparato digerente 24
Pre- and post-natal growth in two sisters with 3-M syndrome 24
ANCA-Associated Vasculitis 23
Clinical features and genotype-phenotype correlations in 41 Italian families with adenomatosis coli 22
Quantitation of fetal DNA in maternal serum during the first trimester of pregnancy by the use of a DAZ repetitive probe 22
Totale 4.319
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Categoria #
all - tutte 22.539
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 22.539
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020645 0 125 6 8 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
2024/2025100 40 60 0 0 0 0 0 0 0 0 0 0
Totale 4.749