IRIS UniCatt

Chiurazzi, Pietro
 Distribuzione geografica
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Continente #
NA - Nord America 3.326
AS - Asia 2.854
EU - Europa 2.508
SA - Sud America 512
AF - Africa 74
OC - Oceania 11
Continente sconosciuto - Info sul continente non disponibili 1
Totale 9.286
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Nazione #
US - Stati Uniti d'America 3.204
SG - Singapore 1.306
CN - Cina 606
DE - Germania 439
IT - Italia 415
BR - Brasile 414
SE - Svezia 404
VN - Vietnam 327
PL - Polonia 268
FR - Francia 212
FI - Finlandia 166
UA - Ucraina 143
GB - Regno Unito 124
IE - Irlanda 102
HK - Hong Kong 97
IN - India 94
JP - Giappone 83
ID - Indonesia 69
CA - Canada 53
RU - Federazione Russa 51
BD - Bangladesh 50
NL - Olanda 46
AR - Argentina 45
IQ - Iraq 40
MX - Messico 39
TR - Turchia 34
ES - Italia 27
AT - Austria 26
KR - Corea 24
PK - Pakistan 18
EC - Ecuador 14
UZ - Uzbekistan 14
ZA - Sudafrica 14
MA - Marocco 13
CZ - Repubblica Ceca 12
IR - Iran 12
LT - Lituania 12
VE - Venezuela 12
AE - Emirati Arabi Uniti 11
JM - Giamaica 11
BE - Belgio 10
PH - Filippine 10
CH - Svizzera 9
KE - Kenya 9
SA - Arabia Saudita 9
EG - Egitto 8
RO - Romania 8
AL - Albania 7
JO - Giordania 7
UY - Uruguay 7
AU - Australia 6
CO - Colombia 6
CI - Costa d'Avorio 5
IL - Israele 5
MY - Malesia 5
PY - Paraguay 5
DO - Repubblica Dominicana 4
DZ - Algeria 4
KZ - Kazakistan 4
NZ - Nuova Zelanda 4
TN - Tunisia 4
AO - Angola 3
BO - Bolivia 3
CL - Cile 3
GR - Grecia 3
LI - Liechtenstein 3
LY - Libia 3
NP - Nepal 3
PT - Portogallo 3
RS - Serbia 3
TH - Thailandia 3
AM - Armenia 2
AZ - Azerbaigian 2
BA - Bosnia-Erzegovina 2
BB - Barbados 2
CR - Costa Rica 2
DM - Dominica 2
GA - Gabon 2
KH - Cambogia 2
LV - Lettonia 2
MM - Myanmar 2
MN - Mongolia 2
NI - Nicaragua 2
NO - Norvegia 2
OM - Oman 2
PA - Panama 2
PE - Perù 2
TG - Togo 2
TT - Trinidad e Tobago 2
TW - Taiwan 2
BH - Bahrain 1
BN - Brunei Darussalam 1
BY - Bielorussia 1
CG - Congo 1
CM - Camerun 1
CW - ???statistics.table.value.countryCode.CW??? 1
CY - Cipro 1
DK - Danimarca 1
ET - Etiopia 1
GE - Georgia 1
Totale 9.265
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Città #
Singapore 771
Ashburn 441
Chandler 347
San Jose 327
Warsaw 253
Ho Chi Minh City 113
Munich 113
Beijing 106
Rome 106
Dublin 98
Helsinki 94
The Dalles 94
Los Angeles 92
Hong Kong 91
Hanoi 84
New York 84
Fairfield 82
Jacksonville 77
Tokyo 77
Woodbridge 75
Hefei 73
Wilmington 72
Lauterbourg 69
Milan 68
Nanjing 66
Jakarta 64
San Mateo 61
Council Bluffs 60
Seattle 55
São Paulo 52
Chicago 45
Houston 45
Ann Arbor 42
Boston 42
Frankfurt am Main 42
Santa Clara 41
Cattolica 39
Marseille 33
Cambridge 32
Moscow 29
North Bergen 27
Kent 26
London 24
Da Nang 23
Princeton 22
Seoul 22
Baghdad 21
Buffalo 21
Lappeenranta 21
Lawrence 21
Nanchang 21
Nürnberg 19
Atlanta 18
Kunming 18
Mexico City 18
Nuremberg 18
Turku 18
Montreal 17
Redwood City 17
Amsterdam 16
Brooklyn 16
Chennai 16
Dallas 16
Orem 15
Phoenix 15
Rio de Janeiro 15
Stockholm 14
Vienna 14
Haiphong 13
Izmir 13
Bremen 12
Denver 12
Paris 12
Pune 12
Shanghai 12
Toronto 12
Dearborn 11
Guangzhou 11
Hangzhou 11
New Delhi 11
Poplar 11
Tashkent 11
Bexley 10
Brussels 10
Falls Church 10
Hyderabad 10
Johannesburg 10
San Francisco 10
Tianjin 10
Brno 9
Curitiba 9
Manchester 9
Roubaix 9
St Louis 9
Zhengzhou 9
Ankara 8
Changsha 8
Charlotte 8
Guayaquil 8
Salvador 8
Totale 5.412
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Nome #
Advances in understanding - genetic basis of intellectual disability 404
CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations 332
Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene 251
Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy 237
A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report 204
Exfoliative Cytology and Genetic Analysis for a Non-Invasive Approach to the Diagnosis of White Sponge Nevus: Case Series 200
A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys 200
Role of CTCF protein in regulating FMR1 locus transcription. 200
A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy 192
Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement 183
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 181
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alstrom Syndromes. 172
Defining the role of the CGGBP1 protein in FMR1 gene expression 171
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation 169
Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype 166
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 159
Validating clinical characteristics of primary failure of eruption (PFE) associated with PTH1R variants 158
Assisted reproductive technology and congenital overgrowth:some speculations on a case of Pallister-Killian syndrome 154
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria 153
Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family 149
Bradeion (SEPT4) as a Urinary Marker of Transitional Cell Bladder Cancer: A Real-Time Polymerase Chain Reaction Study of Gene Expression 148
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 147
Unexpected finding of paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother 143
Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand? 141
Syndromic and Non-Syndromic Primary Failure of Tooth Eruption: A Genetic Overview 141
West syndrome associated with 14q12 duplications harboring FOXG1 141
Modest reactivation of the mutatnt FMR1 gene by valproic acid is accompanied by histone modifications but not DNA demethylation. 140
Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy 139
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons 138
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype 137
New Insight into the genotype-phenotype correlation of PTH1R variants and primary failure of tooth eruption on an Italian Cohort 136
DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome 135
Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1 132
Clinical Reasoning: A Young Man With Subacute Onset of Spastic Paraparesis 129
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 127
Epigenetics, fragile X syndrome and transcriptional therapy. 127
Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families 126
USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies 125
Mitochondrial Dysfunction Causes Cell Death in Patients Affected by Fragile-X-Associated Disorders 121
Assessing the efficacy of an innovative diagnostic method for identifying 5 % variants in somatic ctDNA 120
Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1gene in fragile X cells treated with 5-aza-deoxycitidine 116
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 115
Genetic Aspects of Tooth Agenesis 115
XLMR genes: update 2007 112
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability 107
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 105
Bioinformatic analysis indicates that SARS-CoV-2 is unrelated to known artificial coronaviruses 103
Permanent first molar eruption failure in children: leading signs for early diagnosis 101
Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations. 99
Mental retardation: is naming the real issue? 99
Identification of ultra-rare genetic variants in pediatric acute onset neuropsychiatric syndrome (PANS) by exome and whole genome sequencing 93
Myotonic dystrophy type 1 cosegregating with autosomal dominant polycystic kidney disease type 2 89
Study of the effects of Lemna minor extracts on human immune cell populations 87
Retinal Pigment Epithelium and Outer Retinal Atrophy (RORA) in Retinitis Pigmentosa: Functional, Structural, and Genetic Evaluation 87
Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients. 83
PipeMAGI: an integrated and validated workflow for analysis of NGS data for clinical diagnostics 83
NLRP12 gene mutations and auto-inflammatory diseases: Ever-changing evidence 81
Aldo-Keto Reductase 1C1 (AKR1C1) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema 78
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 78
MRX87 family with Aristales Xdup24bp mutation and implication for polyAlanine expansions. 77
X-linked mental retardation (XLMR): from clinical conditions to cloned genes 76
A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family 70
Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments 59
Inherited retinal diseases due to rpe65 variants: From genetic diagnostic management to therapy 57
Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy 55
Genetics of lipedema: new perspectives on genetic research and molecular diagnoses 54
Molecular dissection of the events leading to inactivation of the FMR1 gene 52
A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability 51
Deep brain stimulation in Fragile X syndrome with tardive dystonia 50
FRAGILE-X SYNDROME - ROUNDER CHROMOSOMES IN ITALY 50
DICENTRIC CHROMOSOME-Y ASSOCIATED WITH LEYDIG-CELL AGENESIS AND SEX REVERSAL 47
MAPPING OF A GENE FOR NONSPECIFIC X-LINKED MENTAL-RETARDATION - EVIDENCE FOR LINKAGE TO CHROMOSOMAL REGION XP21.1-XP22.3 44
GAPO syndrome: a comprehensive examination and review of 105 clinical cases 42
Genetic Determinants of Primary Failure of Eruption: A Comprehensive Review of PTH1R Variants 30
Challenges and Pitfalls in Diagnosing Twins With Discordant BWS Phenotype. 24
NLRP12 as a regulator of inflammation: insights into the correlation with autoinflammatory disorders 1
Totale 9.398
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Categoria #
all - tutte 35.942
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 35.942
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202168 0 0 0 0 0 0 0 0 0 0 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
2024/20251.668 25 29 88 81 95 88 112 117 262 124 378 269
2025/20264.013 504 117 247 485 730 251 838 221 302 268 50 0
Totale 9.398