IRIS PubliCatt

Chiurazzi, Pietro
 Distribuzione geografica
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Continente #
NA - Nord America 1.707
EU - Europa 1.653
AS - Asia 581
AF - Africa 8
OC - Oceania 3
SA - Sud America 3
Totale 3.955
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Nazione #
US - Stati Uniti d'America 1.696
SE - Svezia 378
DE - Germania 276
CN - Cina 272
PL - Polonia 241
IT - Italia 237
SG - Singapore 153
UA - Ucraina 140
IE - Irlanda 101
FR - Francia 70
GB - Regno Unito 65
ID - Indonesia 62
FI - Finlandia 47
RU - Federazione Russa 39
IN - India 32
HK - Hong Kong 16
TR - Turchia 16
NL - Olanda 13
CZ - Repubblica Ceca 11
CA - Canada 10
BE - Belgio 8
ES - Italia 8
IR - Iran 8
JP - Giappone 8
CH - Svizzera 7
CI - Costa d'Avorio 4
LT - Lituania 4
KR - Corea 3
MA - Marocco 3
RO - Romania 3
VN - Vietnam 3
AT - Austria 2
AU - Australia 2
TW - Taiwan 2
AE - Emirati Arabi Uniti 1
AR - Argentina 1
BD - Bangladesh 1
BR - Brasile 1
CL - Cile 1
CM - Camerun 1
CY - Cipro 1
IQ - Iraq 1
KZ - Kazakistan 1
LU - Lussemburgo 1
MX - Messico 1
NZ - Nuova Zelanda 1
PH - Filippine 1
PT - Portogallo 1
RS - Serbia 1
Totale 3.955
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Città #
Chandler 347
Warsaw 234
Ashburn 215
Singapore 113
Dublin 97
Fairfield 82
Jacksonville 75
Woodbridge 75
Wilmington 72
Nanjing 66
Jakarta 62
San Mateo 60
Seattle 51
Rome 46
Ann Arbor 41
Milan 40
Boston 39
Cattolica 39
New York 35
Houston 33
Cambridge 32
Marseille 31
Moscow 28
Chicago 22
Princeton 22
Beijing 21
Lawrence 21
Los Angeles 20
Nanchang 20
Nürnberg 19
Munich 18
Helsinki 17
Kunming 17
Redwood City 17
Hong Kong 16
Izmir 13
London 13
Bremen 12
Pune 12
Dearborn 11
Guangzhou 11
Hangzhou 11
Falls Church 10
Brno 9
Tianjin 9
Brussels 8
Changsha 8
Zhengzhou 8
Boardman 7
Bologna 7
Fremont 7
Hebei 7
Kraków 7
Mountain View 7
Naaldwijk 7
Santa Clara 7
Toronto 7
Washington 7
Busto Arsizio 6
Leawood 6
Shenyang 6
Hefei 5
Lancaster 5
Lappeenranta 5
Norwalk 5
Abidjan 4
Augusta 4
Boydton 4
Frankfurt am Main 4
Kish 4
Phoenix 4
San Diego 4
Shanghai 4
Sovizzo 4
Ürümqi 4
Bari 3
Bern 3
Changchun 3
Cologne 3
Dong Ket 3
Edinburgh 3
Indiana 3
Jiaxing 3
Jinan 3
L’Aquila 3
Monmouth Junction 3
Ottawa 3
Philadelphia 3
Seoul 3
Taiyuan 3
Tokyo 3
University Park 3
Amsterdam 2
Atlanta 2
Auburn Hills 2
Battipaglia 2
Berlin 2
Cicciano 2
Fes 2
Guidonia Montecelio 2
Totale 2.493
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Nome #
Advances in understanding - genetic basis of intellectual disability 330
CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations 276
A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report 151
A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys 137
Role of CTCF protein in regulating FMR1 locus transcription. 131
A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy 124
Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene 114
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 111
Modest reactivation of the mutatnt FMR1 gene by valproic acid is accompanied by histone modifications but not DNA demethylation. 106
Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family 99
Bradeion (SEPT4) as a Urinary Marker of Transitional Cell Bladder Cancer: A Real-Time Polymerase Chain Reaction Study of Gene Expression 96
Defining the role of the CGGBP1 protein in FMR1 gene expression 94
Assisted reproductive technology and congenital overgrowth:some speculations on a case of Pallister-Killian syndrome 93
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria 89
West syndrome associated with 14q12 duplications harboring FOXG1 89
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alstrom Syndromes. 85
Epigenetics, fragile X syndrome and transcriptional therapy. 85
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 82
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation 80
Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families 75
Unexpected finding of paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother 72
Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1gene in fragile X cells treated with 5-aza-deoxycitidine 72
Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement 68
USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies 63
Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations. 62
Validating clinical characteristics of primary failure of eruption (PFE) associated with PTH1R variants 60
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons 59
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 58
Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy 55
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 53
Mental retardation: is naming the real issue? 52
XLMR genes: update 2007 52
Myotonic dystrophy type 1 cosegregating with autosomal dominant polycystic kidney disease type 2 47
Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1 47
NLRP12 gene mutations and auto-inflammatory diseases: Ever-changing evidence 47
Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype 46
MRX87 family with Aristales Xdup24bp mutation and implication for polyAlanine expansions. 46
Study of the effects of Lemna minor extracts on human immune cell populations 46
Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients. 44
Bioinformatic analysis indicates that SARS-CoV-2 is unrelated to known artificial coronaviruses 44
Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia 43
PipeMAGI: an integrated and validated workflow for analysis of NGS data for clinical diagnostics 38
Exfoliative Cytology and Genetic Analysis for a Non-Invasive Approach to the Diagnosis of White Sponge Nevus: Case Series 34
Clinical Reasoning: A Young Man With Subacute Onset of Spastic Paraparesis 33
DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome 33
Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand? 32
Rho kinase inhibition is essential during in vitro neurogenesis and promotes phenotypic rescue of human induced pluripotent stem cell-derived neurons with oligophrenin-1 loss of function 29
Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy 27
Genetics of lipedema: new perspectives on genetic research and molecular diagnoses 26
X-linked mental retardation (XLMR): from clinical conditions to cloned genes 25
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 19
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype 16
Molecular dissection of the events leading to inactivation of the FMR1 gene 15
New Insight into the genotype-phenotype correlation of PTH1R variants and primary failure of tooth eruption on an Italian Cohort 14
Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments 12
A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family 12
Retinal Pigment Epithelium and Outer Retinal Atrophy (RORA) in Retinitis Pigmentosa: Functional, Structural, and Genetic Evaluation 12
A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability 11
FRAGILE-X SYNDROME - ROUNDER CHROMOSOMES IN ITALY 11
Mitochondrial Dysfunction Causes Cell Death in Patients Affected by Fragile-X-Associated Disorders 10
DICENTRIC CHROMOSOME-Y ASSOCIATED WITH LEYDIG-CELL AGENESIS AND SEX REVERSAL 10
MAPPING OF A GENE FOR NONSPECIFIC X-LINKED MENTAL-RETARDATION - EVIDENCE FOR LINKAGE TO CHROMOSOMAL REGION XP21.1-XP22.3 9
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability 9
Totale 4.020
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Categoria #
all - tutte 19.014
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 19.014
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020337 0 0 0 0 36 59 36 19 49 30 75 33
2020/2021372 34 37 11 30 51 22 56 3 39 21 58 10
2021/2022472 39 27 12 47 30 26 13 60 20 19 100 79
2022/20231.025 144 155 62 144 63 116 53 92 110 18 34 34
2023/2024649 35 135 27 82 28 89 53 12 10 33 68 77
2024/2025303 25 29 88 81 80 0 0 0 0 0 0 0
Totale 4.020