IRIS UniCatt

Chiurazzi, Pietro
 Distribuzione geografica
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Continente #
NA - Nord America 3.651
AS - Asia 2.897
EU - Europa 2.569
SA - Sud America 517
AF - Africa 74
OC - Oceania 11
Continente sconosciuto - Info sul continente non disponibili 1
Totale 9.720
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Nazione #
US - Stati Uniti d'America 3.513
SG - Singapore 1.311
CN - Cina 615
IT - Italia 462
DE - Germania 443
BR - Brasile 417
SE - Svezia 404
VN - Vietnam 329
PL - Polonia 268
FR - Francia 214
FI - Finlandia 166
UA - Ucraina 143
GB - Regno Unito 125
IE - Irlanda 102
HK - Hong Kong 99
IN - India 95
JP - Giappone 83
BD - Bangladesh 71
ID - Indonesia 69
CA - Canada 65
RU - Federazione Russa 52
NL - Olanda 49
AR - Argentina 45
IQ - Iraq 40
MX - Messico 39
TR - Turchia 35
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
JM - Giamaica 12
LT - Lituania 12
VE - Venezuela 12
AE - Emirati Arabi Uniti 11
CH - Svizzera 11
BE - Belgio 10
PH - Filippine 10
KE - Kenya 9
SA - Arabia Saudita 9
CO - Colombia 8
EG - Egitto 8
RO - Romania 8
AL - Albania 7
JO - Giordania 7
MY - Malesia 7
UY - Uruguay 7
AU - Australia 6
CI - Costa d'Avorio 5
IL - Israele 5
PY - Paraguay 5
DO - Repubblica Dominicana 4
DZ - Algeria 4
KZ - Kazakistan 4
NZ - Nuova Zelanda 4
TN - Tunisia 4
AO - Angola 3
BA - Bosnia-Erzegovina 3
BO - Bolivia 3
CL - Cile 3
GR - Grecia 3
LI - Liechtenstein 3
LY - Libia 3
NI - Nicaragua 3
NP - Nepal 3
PT - Portogallo 3
RS - Serbia 3
TH - Thailandia 3
TT - Trinidad e Tobago 3
AM - Armenia 2
AZ - Azerbaigian 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
NO - Norvegia 2
OM - Oman 2
PA - Panama 2
PE - Perù 2
TG - Togo 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 9.698
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Città #
Singapore 773
Ashburn 482
Chandler 347
San Jose 344
Warsaw 253
Los Angeles 123
New York 121
Rome 115
Ho Chi Minh City 114
Munich 113
Beijing 107
Dublin 98
Helsinki 94
The Dalles 94
Hong Kong 93
Hanoi 84
Fairfield 82
Wilmington 78
Jacksonville 77
Tokyo 77
Woodbridge 75
Hefei 73
Milan 71
Lauterbourg 69
Nanjing 66
Jakarta 64
San Mateo 61
Council Bluffs 60
Santa Clara 60
Seattle 56
São Paulo 53
Chicago 51
Buffalo 50
Houston 46
Ann Arbor 42
Boston 42
Frankfurt am Main 42
Cattolica 39
Marseille 33
Cambridge 32
Dallas 30
Moscow 29
North Bergen 27
Kent 26
London 24
Da Nang 23
Princeton 22
Seoul 22
Baghdad 21
Lappeenranta 21
Lawrence 21
Nanchang 21
Nürnberg 19
Toronto 19
Atlanta 18
Kunming 18
Mexico City 18
Nuremberg 18
Turku 18
Brooklyn 17
Montreal 17
Redwood City 17
Amsterdam 16
Chennai 16
Phoenix 16
Orem 15
Rio de Janeiro 15
Shanghai 14
Stockholm 14
Vienna 14
Boardman 13
Haiphong 13
Izmir 13
Bremen 12
Denver 12
Hangzhou 12
Paris 12
Pune 12
San Francisco 12
Charlotte 11
Dearborn 11
Guangzhou 11
New Delhi 11
Poplar 11
Tashkent 11
Tukwila 11
Bexley 10
Brussels 10
Falls Church 10
Hyderabad 10
Johannesburg 10
Tianjin 10
Brno 9
Curitiba 9
Manchester 9
Roubaix 9
St Louis 9
Zhengzhou 9
Ankara 8
Changsha 8
Totale 5.658
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Nome #
Advances in understanding - genetic basis of intellectual disability 406
CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations 335
Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments 257
Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene 252
Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy 240
Exfoliative Cytology and Genetic Analysis for a Non-Invasive Approach to the Diagnosis of White Sponge Nevus: Case Series 207
A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report 205
Role of CTCF protein in regulating FMR1 locus transcription. 201
A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys 200
A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy 193
Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement 189
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 184
Defining the role of the CGGBP1 protein in FMR1 gene expression 174
Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype 172
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alstrom Syndromes. 172
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation 169
Validating clinical characteristics of primary failure of eruption (PFE) associated with PTH1R variants 161
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 159
Assisted reproductive technology and congenital overgrowth:some speculations on a case of Pallister-Killian syndrome 158
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 155
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria 154
Bradeion (SEPT4) as a Urinary Marker of Transitional Cell Bladder Cancer: A Real-Time Polymerase Chain Reaction Study of Gene Expression 151
Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family 150
Syndromic and Non-Syndromic Primary Failure of Tooth Eruption: A Genetic Overview 146
Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand? 145
Unexpected finding of paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother 144
West syndrome associated with 14q12 duplications harboring FOXG1 142
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons 142
DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome 142
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 140
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype 138
New Insight into the genotype-phenotype correlation of PTH1R variants and primary failure of tooth eruption on an Italian Cohort 137
Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1 133
Clinical Reasoning: A Young Man With Subacute Onset of Spastic Paraparesis 131
Mitochondrial Dysfunction Causes Cell Death in Patients Affected by Fragile-X-Associated Disorders 131
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 129
USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies 129
Epigenetics, fragile X syndrome and transcriptional therapy. 128
Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families 127
Genetic Aspects of Tooth Agenesis 124
Assessing the efficacy of an innovative diagnostic method for identifying 5 % variants in somatic ctDNA 121
Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1gene in fragile X cells treated with 5-aza-deoxycitidine 118
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
XLMR genes: update 2007 114
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability 110
Bioinformatic analysis indicates that SARS-CoV-2 is unrelated to known artificial coronaviruses 107
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 106
Permanent first molar eruption failure in children: leading signs for early diagnosis 104
Aldo-Keto Reductase 1C1 (AKR1C1) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema 99
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 94
Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients. 90
Myotonic dystrophy type 1 cosegregating with autosomal dominant polycystic kidney disease type 2 90
Retinal Pigment Epithelium and Outer Retinal Atrophy (RORA) in Retinitis Pigmentosa: Functional, Structural, and Genetic Evaluation 90
Study of the effects of Lemna minor extracts on human immune cell populations 87
PipeMAGI: an integrated and validated workflow for analysis of NGS data for clinical diagnostics 84
NLRP12 gene mutations and auto-inflammatory diseases: Ever-changing evidence 83
X-linked mental retardation (XLMR): from clinical conditions to cloned genes 78
MRX87 family with Aristales Xdup24bp mutation and implication for polyAlanine expansions. 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
A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family 70
Inherited retinal diseases due to rpe65 variants: From genetic diagnostic management to therapy 67
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 60
FRAGILE-X SYNDROME - ROUNDER CHROMOSOMES IN ITALY 58
Genetics of lipedema: new perspectives on genetic research and molecular diagnoses 54
Molecular dissection of the events leading to inactivation of the FMR1 gene 53
A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability 53
Deep brain stimulation in Fragile X syndrome with tardive dystonia 51
DICENTRIC CHROMOSOME-Y ASSOCIATED WITH LEYDIG-CELL AGENESIS AND SEX REVERSAL 51
GAPO syndrome: a comprehensive examination and review of 105 clinical cases 49
MAPPING OF A GENE FOR NONSPECIFIC X-LINKED MENTAL-RETARDATION - EVIDENCE FOR LINKAGE TO CHROMOSOMAL REGION XP21.1-XP22.3 48
Genetic Determinants of Primary Failure of Eruption: A Comprehensive Review of PTH1R Variants 41
Challenges and Pitfalls in Diagnosing Twins With Discordant BWS Phenotype. 25
FMR1 RNA int er action with DNMT1 blocks DNA methylation at the FMR1 locus 10
NLRP12 as a regulator of inflammation: insights into the correlation with autoinflammatory disorders 7
Totale 9.833
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Categoria #
all - tutte 38.376
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 38.376
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2025/20264.386 504 117 247 485 730 251 838 221 302 268 186 237
2026/202762 62 0 0 0 0 0 0 0 0 0 0 0
Totale 9.833