IRIS PubliCatt

Chiurazzi, Pietro
 Distribuzione geografica
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Continente #
NA - Nord America 1.664
EU - Europa 1.518
AS - Asia 317
AF - Africa 5
SA - Sud America 3
OC - Oceania 2
Totale 3.509
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Nazione #
US - Stati Uniti d'America 1.662
SE - Svezia 378
DE - Germania 257
PL - Polonia 241
CN - Cina 218
IT - Italia 184
UA - Ucraina 140
IE - Irlanda 101
FR - Francia 69
GB - Regno Unito 52
FI - Finlandia 40
IN - India 32
HK - Hong Kong 16
TR - Turchia 14
NL - Olanda 12
RU - Federazione Russa 9
BE - Belgio 8
IR - Iran 8
JP - Giappone 8
SG - Singapore 8
CH - Svizzera 7
ES - Italia 7
CZ - Repubblica Ceca 5
CI - Costa d'Avorio 4
RO - Romania 3
VN - Vietnam 3
AT - Austria 2
KR - Corea 2
TW - Taiwan 2
AE - Emirati Arabi Uniti 1
AR - Argentina 1
AU - Australia 1
BD - Bangladesh 1
BR - Brasile 1
CA - Canada 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 3.509
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Città #
Chandler 347
Warsaw 234
Ashburn 213
Dublin 97
Fairfield 82
Jacksonville 75
Woodbridge 75
Wilmington 72
Nanjing 66
San Mateo 60
Seattle 51
Ann Arbor 41
Boston 39
Cattolica 39
Milan 35
New York 35
Houston 33
Cambridge 32
Marseille 31
Rome 26
Princeton 22
Beijing 21
Chicago 21
Lawrence 21
Nanchang 20
Nürnberg 19
Kunming 17
Redwood City 17
Hong Kong 16
Izmir 13
Bremen 12
Los Angeles 12
Pune 12
Dearborn 11
Hangzhou 11
Helsinki 11
Falls Church 10
Guangzhou 9
Tianjin 9
Brussels 8
Changsha 8
London 8
Zhengzhou 8
Fremont 7
Hebei 7
Kraków 7
Mountain View 7
Naaldwijk 7
Washington 7
Bologna 6
Busto Arsizio 6
Leawood 6
Munich 6
Shenyang 6
Hefei 5
Lancaster 5
Lappeenranta 5
Norwalk 5
Abidjan 4
Augusta 4
Boardman 4
Boydton 4
Kish 4
Phoenix 4
San Diego 4
Sovizzo 4
Ürümqi 4
Bern 3
Brno 3
Changchun 3
Cologne 3
Dong Ket 3
Edinburgh 3
Indiana 3
Jiaxing 3
Jinan 3
Monmouth Junction 3
Philadelphia 3
Shanghai 3
Singapore 3
Tokyo 3
University Park 3
Atlanta 2
Auburn Hills 2
Bari 2
Berlin 2
Frankfurt am Main 2
Guidonia Montecelio 2
Ningbo 2
Port de Sagunt 2
Prague 2
Racale 2
Redmond 2
San Francisco 2
San Jose 2
Santu Lussurgiu 2
Seoul 2
Taiyuan 2
Vienna 2
Zurich 2
Totale 2.208
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Nome #
Advances in understanding - genetic basis of intellectual disability 322
CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations 267
A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report 140
A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys 126
Role of CTCF protein in regulating FMR1 locus transcription. 122
A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy 116
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 105
Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene 103
Modest reactivation of the mutatnt FMR1 gene by valproic acid is accompanied by histone modifications but not DNA demethylation. 97
Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family 94
Bradeion (SEPT4) as a Urinary Marker of Transitional Cell Bladder Cancer: A Real-Time Polymerase Chain Reaction Study of Gene Expression 90
Assisted reproductive technology and congenital overgrowth:some speculations on a case of Pallister-Killian syndrome 89
Defining the role of the CGGBP1 protein in FMR1 gene expression 84
West syndrome associated with 14q12 duplications harboring FOXG1 84
Epigenetics, fragile X syndrome and transcriptional therapy. 83
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria 80
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype 77
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alstrom Syndromes. 76
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation 73
Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families 69
Unexpected finding of paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother 66
Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1gene in fragile X cells treated with 5-aza-deoxycitidine 66
Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations. 58
Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement 58
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons 56
USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies 55
XLMR genes: update 2007 51
Mental retardation: is naming the real issue? 48
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 47
Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy 46
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 45
MRX87 family with Aristales Xdup24bp mutation and implication for polyAlanine expansions. 43
Myotonic dystrophy type 1 cosegregating with autosomal dominant polycystic kidney disease type 2 43
Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1 42
NLRP12 gene mutations and auto-inflammatory diseases: Ever-changing evidence 42
Validating clinical characteristics of primary failure of eruption (PFE) associated with PTH1R variants 42
Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients. 40
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 38
Bioinformatic analysis indicates that SARS-CoV-2 is unrelated to known artificial coronaviruses 38
Study of the effects of Lemna minor extracts on human immune cell populations 37
Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype 36
PipeMAGI: an integrated and validated workflow for analysis of NGS data for clinical diagnostics 32
Clinical Reasoning: A Young Man With Subacute Onset of Spastic Paraparesis 26
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 26
DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome 24
Genetics of lipedema: new perspectives on genetic research and molecular diagnoses 23
X-linked mental retardation (XLMR): from clinical conditions to cloned genes 22
Exfoliative Cytology and Genetic Analysis for a Non-Invasive Approach to the Diagnosis of White Sponge Nevus: Case Series 21
Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand? 21
Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy 16
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 10
A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability 9
Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments 8
A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family 8
Molecular dissection of the events leading to inactivation of the FMR1 gene 8
DICENTRIC CHROMOSOME-Y ASSOCIATED WITH LEYDIG-CELL AGENESIS AND SEX REVERSAL 8
FRAGILE-X SYNDROME - ROUNDER CHROMOSOMES IN ITALY 7
MAPPING OF A GENE FOR NONSPECIFIC X-LINKED MENTAL-RETARDATION - EVIDENCE FOR LINKAGE TO CHROMOSOMAL REGION XP21.1-XP22.3 6
Mitochondrial Dysfunction Causes Cell Death in Patients Affected by Fragile-X-Associated Disorders 1
Totale 3.570
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Categoria #
all - tutte 14.129
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 14.129
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201978 0 0 0 0 0 0 0 0 0 15 32 31
2019/2020570 86 33 40 74 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
2023/2024502 35 135 27 82 28 89 53 12 10 31 0 0
Totale 3.570