IRIS UniCatt

Chiurazzi, Pietro
 Distribuzione geografica
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Continente #
EU - Europa 1.917
NA - Nord America 1.822
AS - Asia 787
SA - Sud America 46
AF - Africa 16
OC - Oceania 7
Totale 4.595
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Nazione #
US - Stati Uniti d'America 1.803
SE - Svezia 381
DE - Germania 358
SG - Singapore 294
CN - Cina 293
IT - Italia 284
PL - Polonia 241
UA - Ucraina 140
FI - Finlandia 109
IE - Irlanda 101
FR - Francia 79
GB - Regno Unito 67
ID - Indonesia 62
IN - India 42
RU - Federazione Russa 41
BR - Brasile 36
NL - Olanda 28
HK - Hong Kong 24
AT - Austria 18
TR - Turchia 17
CA - Canada 12
CZ - Repubblica Ceca 12
JP - Giappone 12
IR - Iran 11
BE - Belgio 10
ES - Italia 9
CH - Svizzera 8
MA - Marocco 7
AE - Emirati Arabi Uniti 5
LT - Lituania 5
RO - Romania 5
AL - Albania 4
AR - Argentina 4
CI - Costa d'Avorio 4
NZ - Nuova Zelanda 4
AU - Australia 3
KR - Corea 3
LI - Liechtenstein 3
LY - Libia 3
PT - Portogallo 3
VN - Vietnam 3
AM - Armenia 2
BD - Bangladesh 2
BO - Bolivia 2
CO - Colombia 2
GR - Grecia 2
JM - Giamaica 2
KH - Cambogia 2
LV - Lettonia 2
MX - Messico 2
PA - Panama 2
PH - Filippine 2
PK - Pakistan 2
TW - Taiwan 2
AZ - Azerbaigian 1
BN - Brunei Darussalam 1
CL - Cile 1
CM - Camerun 1
CR - Costa Rica 1
CY - Cipro 1
EC - Ecuador 1
EG - Egitto 1
GE - Georgia 1
HU - Ungheria 1
IL - Israele 1
IQ - Iraq 1
KZ - Kazakistan 1
LA - Repubblica Popolare Democratica del Laos 1
LU - Lussemburgo 1
ME - Montenegro 1
MK - Macedonia 1
MT - Malta 1
NO - Norvegia 1
RS - Serbia 1
UZ - Uzbekistan 1
Totale 4.595
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Città #
Chandler 347
Warsaw 234
Ashburn 222
Singapore 172
Dublin 97
Fairfield 82
Munich 78
Jacksonville 75
Woodbridge 75
Wilmington 72
Helsinki 70
Nanjing 66
Jakarta 62
San Mateo 60
Milan 57
Rome 52
Seattle 51
Ann Arbor 41
Boston 39
Cattolica 39
New York 38
Houston 34
Cambridge 32
Marseille 31
Los Angeles 28
Moscow 28
Chicago 26
Hong Kong 24
North Bergen 24
Princeton 22
Beijing 21
Lawrence 21
Nanchang 21
Nürnberg 19
Kunming 18
Redwood City 17
London 14
Nuremberg 14
Izmir 13
Bremen 12
Pune 12
Dearborn 11
Guangzhou 11
Hangzhou 11
Brussels 10
Falls Church 10
Vienna 10
Brno 9
Tianjin 9
Toronto 9
Zhengzhou 9
Changsha 8
Frankfurt am Main 8
Santa Clara 8
Boardman 7
Bologna 7
Fremont 7
Hebei 7
Hyderabad 7
Kraków 7
Mountain View 7
Naaldwijk 7
Tokyo 7
Washington 7
Amsterdam 6
Busto Arsizio 6
Lappeenranta 6
Leawood 6
Naples 6
Shenyang 6
Boydton 5
Council Bluffs 5
Hefei 5
Lancaster 5
Norwalk 5
The Dalles 5
Abidjan 4
Auckland 4
Augusta 4
Bari 4
Kish 4
Phoenix 4
Rabat 4
San Diego 4
Shanghai 4
Sovizzo 4
Ürümqi 4
Bern 3
Changchun 3
Cologne 3
Dong Ket 3
Dubai 3
Düsseldorf 3
Edinburgh 3
Indiana 3
Jiaxing 3
Jinan 3
Jyväskylä 3
L’Aquila 3
Monmouth Junction 3
Totale 2.802
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Nome #
Advances in understanding - genetic basis of intellectual disability 334
CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations 283
A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report 156
Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy 153
A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys 148
Role of CTCF protein in regulating FMR1 locus transcription. 139
A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy 131
Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene 129
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alstrom Syndromes. 124
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 114
Modest reactivation of the mutatnt FMR1 gene by valproic acid is accompanied by histone modifications but not DNA demethylation. 111
Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family 104
Assisted reproductive technology and congenital overgrowth:some speculations on a case of Pallister-Killian syndrome 101
Defining the role of the CGGBP1 protein in FMR1 gene expression 99
Bradeion (SEPT4) as a Urinary Marker of Transitional Cell Bladder Cancer: A Real-Time Polymerase Chain Reaction Study of Gene Expression 99
West syndrome associated with 14q12 duplications harboring FOXG1 97
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation 96
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria 94
Epigenetics, fragile X syndrome and transcriptional therapy. 88
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 86
Unexpected finding of paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother 83
Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1gene in fragile X cells treated with 5-aza-deoxycitidine 78
Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families 77
Validating clinical characteristics of primary failure of eruption (PFE) associated with PTH1R variants 76
Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement 74
USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies 67
Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations. 65
Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy 65
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 65
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 64
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons 61
Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype 57
Mental retardation: is naming the real issue? 55
XLMR genes: update 2007 55
Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1 53
Study of the effects of Lemna minor extracts on human immune cell populations 52
Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients. 50
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 50
Myotonic dystrophy type 1 cosegregating with autosomal dominant polycystic kidney disease type 2 50
NLRP12 gene mutations and auto-inflammatory diseases: Ever-changing evidence 50
DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome 50
MRX87 family with Aristales Xdup24bp mutation and implication for polyAlanine expansions. 48
Bioinformatic analysis indicates that SARS-CoV-2 is unrelated to known artificial coronaviruses 46
Clinical Reasoning: A Young Man With Subacute Onset of Spastic Paraparesis 45
Exfoliative Cytology and Genetic Analysis for a Non-Invasive Approach to the Diagnosis of White Sponge Nevus: Case Series 44
PipeMAGI: an integrated and validated workflow for analysis of NGS data for clinical diagnostics 43
Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand? 42
Syndromic and Non-Syndromic Primary Failure of Tooth Eruption: A Genetic Overview 41
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 36
X-linked mental retardation (XLMR): from clinical conditions to cloned genes 33
Genetics of lipedema: new perspectives on genetic research and molecular diagnoses 32
New Insight into the genotype-phenotype correlation of PTH1R variants and primary failure of tooth eruption on an Italian Cohort 31
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype 27
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 25
Retinal Pigment Epithelium and Outer Retinal Atrophy (RORA) in Retinitis Pigmentosa: Functional, Structural, and Genetic Evaluation 23
Molecular dissection of the events leading to inactivation of the FMR1 gene 19
Mitochondrial Dysfunction Causes Cell Death in Patients Affected by Fragile-X-Associated Disorders 19
Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments 16
A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family 15
A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability 15
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability 15
FRAGILE-X SYNDROME - ROUNDER CHROMOSOMES IN ITALY 13
Assessing the efficacy of an innovative diagnostic method for identifying 5 % variants in somatic ctDNA 13
DICENTRIC CHROMOSOME-Y ASSOCIATED WITH LEYDIG-CELL AGENESIS AND SEX REVERSAL 12
Aldo-Keto Reductase 1C1 (AKR1C1) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema 10
MAPPING OF A GENE FOR NONSPECIFIC X-LINKED MENTAL-RETARDATION - EVIDENCE FOR LINKAGE TO CHROMOSOMAL REGION XP21.1-XP22.3 10
Inherited retinal diseases due to rpe65 variants: From genetic diagnostic management to therapy 6
Identification of ultra-rare genetic variants in pediatric acute onset neuropsychiatric syndrome (PANS) by exome and whole genome sequencing 6
Totale 4.668
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Categoria #
all - tutte 22.592
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 22.592
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020138 0 0 0 0 0 0 0 0 0 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
2024/2025951 25 29 88 81 95 88 112 117 262 54 0 0
Totale 4.668