IRIS UniCatt

Chiurazzi, Pietro
 Distribuzione geografica
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Continente #
NA - Nord America 4.121
AS - Asia 2.935
EU - Europa 2.631
SA - Sud America 525
Continente sconosciuto - Info sul continente non disponibili 116
AF - Africa 74
OC - Oceania 11
Totale 10.413
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Nazione #
US - Stati Uniti d'America 3.963
SG - Singapore 1.318
CN - Cina 620
IT - Italia 509
DE - Germania 443
BR - Brasile 420
SE - Svezia 404
VN - Vietnam 331
PL - Polonia 268
FR - Francia 214
FI - Finlandia 169
UA - Ucraina 143
GB - Regno Unito 127
IE - Irlanda 102
HK - Hong Kong 100
IN - India 96
JP - Giappone 83
BD - Bangladesh 82
CA - Canada 72
ID - Indonesia 70
NL - Olanda 52
RU - Federazione Russa 52
AR - Argentina 45
IQ - Iraq 40
MX - Messico 39
TR - Turchia 37
ES - Italia 29
AT - Austria 26
KR - Corea 24
PK - Pakistan 18
EC - Ecuador 14
UZ - Uzbekistan 14
ZA - Sudafrica 14
CO - Colombia 13
JM - Giamaica 13
MA - Marocco 13
CH - Svizzera 12
CZ - Repubblica Ceca 12
IR - Iran 12
LT - Lituania 12
VE - Venezuela 12
AE - Emirati Arabi Uniti 11
BE - Belgio 11
PH - Filippine 11
MY - Malesia 10
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
CR - Costa Rica 6
CI - Costa d'Avorio 5
DO - Repubblica Dominicana 5
IL - Israele 5
KZ - Kazakistan 5
PY - Paraguay 5
TT - Trinidad e Tobago 5
DZ - Algeria 4
NP - Nepal 4
NZ - Nuova Zelanda 4
PT - Portogallo 4
TH - Thailandia 4
TN - Tunisia 4
AO - Angola 3
BA - Bosnia-Erzegovina 3
BB - Barbados 3
BO - Bolivia 3
CL - Cile 3
GR - Grecia 3
LI - Liechtenstein 3
LY - Libia 3
NI - Nicaragua 3
RS - Serbia 3
AM - Armenia 2
AZ - Azerbaigian 2
DM - Dominica 2
GA - Gabon 2
HN - Honduras 2
HR - Croazia 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
PR - Porto Rico 2
SX - ???statistics.table.value.countryCode.SX??? 2
TG - Togo 2
TW - Taiwan 2
BH - Bahrain 1
BN - Brunei Darussalam 1
BY - Bielorussia 1
CG - Congo 1
CM - Camerun 1
CU - Cuba 1
Totale 10.273
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Città #
Singapore 778
Ashburn 527
San Jose 356
Chandler 347
Warsaw 253
Los Angeles 134
New York 129
Rome 121
Ho Chi Minh City 114
Munich 113
Beijing 109
Dublin 98
Helsinki 94
Hong Kong 94
The Dalles 94
Hanoi 86
Fairfield 82
Wilmington 81
Milan 80
Jacksonville 78
Tokyo 77
Woodbridge 75
Hefei 73
Lauterbourg 69
Nanjing 66
Jakarta 64
Santa Clara 63
Council Bluffs 61
San Mateo 61
Buffalo 58
Seattle 56
Chicago 53
São Paulo 53
Houston 48
Ann Arbor 42
Boston 42
Frankfurt am Main 42
Cattolica 39
Dallas 34
Marseille 33
Cambridge 32
Moscow 29
North Bergen 27
Kent 26
Atlanta 25
London 24
Phoenix 24
Da Nang 23
Princeton 22
Seoul 22
Baghdad 21
Lappeenranta 21
Lawrence 21
Nanchang 21
Toronto 20
Brooklyn 19
Nürnberg 19
Kunming 18
Mexico City 18
Montreal 18
Nuremberg 18
Turku 18
Redwood City 17
Amsterdam 16
Chennai 16
Orem 16
Rio de Janeiro 15
Izmir 14
San Francisco 14
Shanghai 14
Stockholm 14
Vienna 14
Boardman 13
Denver 13
Haiphong 13
Bremen 12
Hangzhou 12
Paris 12
Pune 12
Brussels 11
Charlotte 11
Dearborn 11
Falls Church 11
Guangzhou 11
New Delhi 11
Poplar 11
St Louis 11
Tashkent 11
Tukwila 11
Bexley 10
Hyderabad 10
Johannesburg 10
Tianjin 10
Brno 9
Curitiba 9
Manchester 9
Naples 9
Philadelphia 9
Roubaix 9
Washington 9
Totale 5.813
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Nome #
Advances in understanding - genetic basis of intellectual disability 415
Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype 354
CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations 344
Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments 299
Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene 254
Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy 247
A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys 216
Exfoliative Cytology and Genetic Analysis for a Non-Invasive Approach to the Diagnosis of White Sponge Nevus: Case Series 210
A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report 208
Role of CTCF protein in regulating FMR1 locus transcription. 202
A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy 199
Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement 195
Syndromic and Non-Syndromic Primary Failure of Tooth Eruption: A Genetic Overview 188
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 187
Defining the role of the CGGBP1 protein in FMR1 gene expression 182
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alstrom Syndromes. 176
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation 170
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 167
Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand? 166
Validating clinical characteristics of primary failure of eruption (PFE) associated with PTH1R variants 165
Assisted reproductive technology and congenital overgrowth:some speculations on a case of Pallister-Killian syndrome 164
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 158
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria 155
Bradeion (SEPT4) as a Urinary Marker of Transitional Cell Bladder Cancer: A Real-Time Polymerase Chain Reaction Study of Gene Expression 155
Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family 152
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype 149
Unexpected finding of paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother 146
West syndrome associated with 14q12 duplications harboring FOXG1 145
DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome 145
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons 144
Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy 144
New Insight into the genotype-phenotype correlation of PTH1R variants and primary failure of tooth eruption on an Italian Cohort 142
Modest reactivation of the mutatnt FMR1 gene by valproic acid is accompanied by histone modifications but not DNA demethylation. 141
Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1 135
Mitochondrial Dysfunction Causes Cell Death in Patients Affected by Fragile-X-Associated Disorders 133
Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families 132
USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies 132
Clinical Reasoning: A Young Man With Subacute Onset of Spastic Paraparesis 131
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 130
Epigenetics, fragile X syndrome and transcriptional therapy. 129
Genetic Aspects of Tooth Agenesis 129
Assessing the efficacy of an innovative diagnostic method for identifying 5 % variants in somatic ctDNA 128
Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1gene in fragile X cells treated with 5-aza-deoxycitidine 121
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 120
XLMR genes: update 2007 115
Bioinformatic analysis indicates that SARS-CoV-2 is unrelated to known artificial coronaviruses 112
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 110
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability 110
Permanent first molar eruption failure in children: leading signs for early diagnosis 108
Mental retardation: is naming the real issue? 104
Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations. 101
Aldo-Keto Reductase 1C1 (AKR1C1) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema 100
Identification of ultra-rare genetic variants in pediatric acute onset neuropsychiatric syndrome (PANS) by exome and whole genome sequencing 97
Retinal Pigment Epithelium and Outer Retinal Atrophy (RORA) in Retinitis Pigmentosa: Functional, Structural, and Genetic Evaluation 95
Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients. 94
Myotonic dystrophy type 1 cosegregating with autosomal dominant polycystic kidney disease type 2 93
Study of the effects of Lemna minor extracts on human immune cell populations 90
NLRP12 gene mutations and auto-inflammatory diseases: Ever-changing evidence 89
PipeMAGI: an integrated and validated workflow for analysis of NGS data for clinical diagnostics 87
X-linked mental retardation (XLMR): from clinical conditions to cloned genes 81
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 80
MRX87 family with Aristales Xdup24bp mutation and implication for polyAlanine expansions. 79
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 72
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 68
FRAGILE-X SYNDROME - ROUNDER CHROMOSOMES IN ITALY 61
A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability 57
Genetics of lipedema: new perspectives on genetic research and molecular diagnoses 57
Molecular dissection of the events leading to inactivation of the FMR1 gene 56
GAPO syndrome: a comprehensive examination and review of 105 clinical cases 54
DICENTRIC CHROMOSOME-Y ASSOCIATED WITH LEYDIG-CELL AGENESIS AND SEX REVERSAL 54
Genetic Determinants of Primary Failure of Eruption: A Comprehensive Review of PTH1R Variants 54
Deep brain stimulation in Fragile X syndrome with tardive dystonia 51
MAPPING OF A GENE FOR NONSPECIFIC X-LINKED MENTAL-RETARDATION - EVIDENCE FOR LINKAGE TO CHROMOSOMAL REGION XP21.1-XP22.3 49
Challenges and Pitfalls in Diagnosing Twins With Discordant BWS Phenotype. 27
FMR1 RNA int er action with DNMT1 blocks DNA methylation at the FMR1 locus 18
NLRP12 as a regulator of inflammation: insights into the correlation with autoinflammatory disorders 16
Totale 10.413
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Categoria #
all - tutte 41.012
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 41.012
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022406 0 0 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
2026/2027642 264 324 54 0 0 0 0 0 0 0 0 0
Totale 10.413