CINECA IRIS Institutional Research Information System

GIACHINO, Daniela Francesca
 Distribuzione geografica
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Continente #
NA - Nord America 7.697
EU - Europa 4.385
AS - Asia 1.754
OC - Oceania 102
SA - Sud America 83
AF - Africa 42
Continente sconosciuto - Info sul continente non disponibili 2
Totale 14.065
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Nazione #
US - Stati Uniti d'America 7.550
IT - Italia 1.218
CN - Cina 917
DE - Germania 504
SE - Svezia 399
DK - Danimarca 397
IE - Irlanda 345
FR - Francia 255
GB - Regno Unito 196
FI - Finlandia 194
UA - Ucraina 190
SG - Singapore 147
AT - Austria 135
CA - Canada 128
KR - Corea 127
IN - India 102
JP - Giappone 102
ES - Italia 96
VN - Vietnam 96
PL - Polonia 95
AU - Australia 92
BE - Belgio 64
NL - Olanda 61
GR - Grecia 53
CH - Svizzera 45
BR - Brasile 42
TR - Turchia 41
HK - Hong Kong 40
RU - Federazione Russa 31
IR - Iran 28
TW - Taiwan 28
RO - Romania 23
PH - Filippine 22
PT - Portogallo 22
IL - Israele 18
AR - Argentina 17
CZ - Repubblica Ceca 14
MX - Messico 13
SN - Senegal 13
PK - Pakistan 12
CO - Colombia 11
SA - Arabia Saudita 11
ID - Indonesia 10
NZ - Nuova Zelanda 10
CY - Cipro 7
HR - Croazia 7
LT - Lituania 7
BA - Bosnia-Erzegovina 6
CL - Cile 6
HU - Ungheria 6
IQ - Iraq 6
SI - Slovenia 6
TH - Thailandia 6
UZ - Uzbekistan 6
KZ - Kazakistan 5
MA - Marocco 5
NO - Norvegia 5
TN - Tunisia 5
ZA - Sudafrica 5
BH - Bahrain 4
CU - Cuba 4
EG - Egitto 4
MY - Malesia 4
QA - Qatar 4
AE - Emirati Arabi Uniti 3
LV - Lettonia 3
NG - Nigeria 3
PE - Perù 3
SY - Repubblica araba siriana 3
DZ - Algeria 2
EU - Europa 2
GY - Guiana 2
PR - Porto Rico 2
SC - Seychelles 2
SK - Slovacchia (Repubblica Slovacca) 2
AL - Albania 1
BD - Bangladesh 1
BG - Bulgaria 1
BY - Bielorussia 1
ET - Etiopia 1
IS - Islanda 1
KE - Kenya 1
KG - Kirghizistan 1
KW - Kuwait 1
LI - Liechtenstein 1
LK - Sri Lanka 1
LU - Lussemburgo 1
NP - Nepal 1
PY - Paraguay 1
SD - Sudan 1
UY - Uruguay 1
Totale 14.065
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Città #
Ann Arbor 1.996
Chandler 594
Beijing 488
Fairfield 408
Houston 388
Dublin 343
Ashburn 305
Wilmington 289
Torino 271
Woodbridge 243
Seattle 196
Dearborn 182
Redwood City 182
Cambridge 150
Jacksonville 140
Vienna 132
Villeurbanne 116
Pisa 108
Nyköping 106
Medford 101
Princeton 98
Singapore 93
Warsaw 77
Fremont 68
Ottawa 68
Milan 65
Dong Ket 62
Shanghai 55
Turin 53
New York 51
Boston 48
Nanjing 45
Guangzhou 41
Los Angeles 32
Mountain View 32
Rome 30
San Diego 30
Tokyo 30
Hangzhou 28
Wuhan 28
Boardman 26
London 23
Brussels 22
Taipei 22
Helsinki 20
Paris 20
Hefei 19
Seoul 19
Washington 19
Chengdu 18
Fleurus 18
Phoenix 18
Barcelona 17
Falls Church 17
Madrid 17
Munich 17
Norwalk 17
Silver Spring 17
Florence 16
Athens 15
Chicago 15
Dallas 15
Edinburgh 15
Kunming 15
Toronto 15
Genova 14
Lappeenranta 14
New Delhi 14
Atlanta 13
Melbourne 13
Bethesda 12
Central District 12
Frankfurt am Main 12
Jinan 12
Senigallia 12
São Paulo 12
Amsterdam 11
Belfast 11
Buffalo 11
Changsha 11
Chennai 11
Modena 11
Perth 11
Pune 11
Rochester 11
Salt Lake City 11
Sydney 11
Verona 11
Ankara 10
Arezzo 10
Leawood 10
Nürnberg 10
Shenyang 10
Zhengzhou 10
Bologna 9
Lausanne 9
Zanjan 9
Zurich 9
Carate Brianza 8
Central 8
Totale 8.608
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Nome #
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome 718
Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria 516
Usefulness of exercise test in the diagnosis of short QT syndrome 489
Atrial fibrillation in a large population with Brugada electrocardiographic pattern: prevalence, management, and correlation with prognosis 472
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia 439
NOTCH3 gene mutations in subjects clinically suspected of CADASIL 399
Heterozygous deletion of KLHL1/ATX8OS at the SCA8 locus is unlikely associated with cerebellar impairment in humans 352
RAS mutations are the predominant molecular alteration in poorly differentiated thyroid carcinomas and bear prognostic impact 327
The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity. 303
Detection of EGFR mutations in archival lung cancer samples by pyrosequencing 290
BCLI POLYMORPHISM OF THE GLUCOCORTICOID RECEPTOR GENE IS ASSOCIATED WITH INCREASED OBESITY, IMPAIRED GLUCOSE TOLERANCE AND DYSLIPIDEMIA IN PATIENTS WITH ADDISON’S DISEASE 283
Differential regulation of interleukin 12 and interleukin 23 production in human dendritic cells 273
Bi-allelic MSH6 mutations in a case of early onset multiple primary tumors resembling Lynch and Turcot syndrome 266
p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma 261
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome 256
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes 241
Mammalian target of rapamycin pathway activation is associated to RET mutation status in medullary thyroid carcinoma. 235
Analysis of BCLI, N363S and ER22/23EK polymorphisms of the glucocorticoid receptor gene in adrenal incidentalomas 230
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome 226
SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients. 218
Mapping and phasing of structural variation in patient genomes using nanopore sequencing 208
The lack of effect of sotalol in short QT syndrome patients carrying the T618I mutation in the KCNH2 gene 189
Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study 181
Heterozygous deletion of KLHL1/ATXN8OS at the SCA8 locus are likely not associated with cerebellar impairment in humans 175
A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation. 174
Detection and characterization of classical and "uncommon" exon 19 Epidermal Growth Factor Receptor mutations in lung cancer by pyrosequencing 170
S81 L and G170R mutations causing Primary Hyperoxaluria Type I in homozygosis and heterozygosis: an example of positive interallelic complementation. 169
Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis. 165
Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case 161
Analysis of the CARD15 variants R702W, G908R and L1007fs in Italian IBD patients 157
Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience 157
Uromodulinopathies May Show a Wider Phenotypic Spectrum and Be Responsible of as Many as 3% of Unspecific ESRF Cases 153
Urinary secretion and extracellular aggregation of mutant uromodulin isoforms. 148
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms 147
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies 145
Analysis of BclI, N363S and ER22/23EK polymorphism of the glucocorticoid receptor gene in a large series of patients with adrenal incidentaloma 144
The Italian Multicenter Study of Primary Hyperoxaluria 135
Analysis of TP53 Arg72Pro and MDM2 SNP309 T>G polymorphisms as modifier factors in hereditary retinoblastoma 132
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases 132
9p deletion syndrome-like in a girl with a 9p insertion on chromosome 2 without 9p deletion 130
A new CARD15 mutation in Blau syndrome 129
Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations 129
Autosomal dominant Alport syndrome: molecular analysis of theCOL4A4 gene and clinical outcome 128
Primary hyperoxaluria: analysis of GRHPR, HOGA1 genes and the promoter-sequence of AGXT gene in the Italian population 127
Prospective assessment of XPD Lys751Gln and XRCC1 Arg399Gln single nucleotide polymorphisms in lung cancer 126
PTEN hamartoma tumor syndromes in childhood: Description of two cases and a proposal for follow-up protocol 126
Primary hyperoxaluria: report of an Italian family with clear sex conditioned penetrance 124
Short QT syndrome 123
Novel human pathological mutations. Gene symbol: AGXT. Disease: hyperoxaluria 120
Primary Hyperoxaluria Type 1 with Homozygosity for a Double-mutated AGXT Allele in a 2-year-old Child 118
Workload measurement for molecular genetics laboratory: A survey study 116
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene 115
Primary hyperoxaluria in Italy 115
Stage IB malignant thymoma in a Lynch syndrome patient with multiple cancers: response to incidental administration of oxaliplatin and 5-fluorouracil 114
Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations. 109
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals 106
NOVEL AND KNOWN MUTATIONS IDENTIFIED BY CLINICAL EXOME SEQUENCING FOR THE DIAGNOSIS OF POLYCYSTIC KIDNEY DISEASE 103
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility 103
SINGLE NUCLEOTIDE POLYMORPHISMS (SNP) AND HAPLOTYPES IN PSA PROMOTER: A NEW PROMISING PROSTATE CANCER SUSCEPTIBILITY AND PROGNOSIS PREDICTOR TOOL 101
Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations. 100
null 100
Clinical and genetic study of primary hyperoxaluria in Italy 97
ASSOCIATION BETWEEN RS12917707 SINGLE NUCLEOTIDE POLYMORPHISM AT THE UMOD PROMOTER REGION AND SERUM UROMODULIN LEVELS: IMPLICATIONS IN KIDNEY TRANSPLANTATION 96
USE OF CLINICAL EXOME SEQUENCING IN THE DIAGNOSTIC FLOW OF MONOGENIC KIDNEY DISEASES: THE PIEDMONT EXPERIENCE 95
A case report of type 1 brugada ECG exercise induced 93
GLUCOCORTICOID RECEPTOR POLYMORPHISMS AND METABOLIC-CARDIOVASCULAR PROFILE IN PATIENTS WITH ADDISON’S DISEASE UNDER REPLACEMENT THERAPY 91
P. 06.1 RELATIONSHIP BETWEEN NOD2/CARD15 GENE POLYMORPHISMS AND RESPONSE TO ANTI-TNF AGENTS IN INFLAMMATORY BOWEL DISEASES: RESULTS OF A CLINICAL COHORT STUDY 88
Pharmacogenetics studies in patients with advanced lungcancer: prognostic value of the thymidylate synthase 2R/3Rpolymorphism and predictivity of NER factor XPD K751Qand XRCC1 R399Q polymorphisms following platinum-basedchemotherapy 86
Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants 86
THE BURDEN OF MISDIAGNOSED RARE DISEASES IN RECIPIENT OF RENAL TRANSPLANTATION 84
RNASEL R462Q is significantly associated with Prostate Cancer in the Italian population 76
Long-term follow-up and predictors of arrhythmic events in the brugada registry of the piedmont region of Italy 74
Mutation analysis of the MSH6 gene in 52 MLH1/MSH2-negative, HNPCC suspect Italian patients 68
Pharmacogenetics studies in patients with advanced lung cancer: Prognostic value of the thymidylate synthase 2R/3R polymorphism and predictivity of NER factor XPD K751Q and XRCC1 R399Q polymorphisms following platinum-based chemotherapy 68
Mutant uromodulin is secreted in the urine of patients with familial hyperuricemic nephropathy and induces the formation of extracellular aggregates. 67
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations 67
Peritoneal Dialysis and platelet infusion can be effective for MNGIE relapsing neuropathy not responding to intravenous high-dose gammaglobulin (IVIG) 66
Doppia traslocazione (7;13 e 11;15) con delezione di 3.4 Mb in 13q12.2 associata ad ipotonia e ritardo dello sviluppo psicomotorio 65
Genotype-Phenotype Correlation in a Family with Brugada Syndrome Harboring the Novel p.Gln371* Nonsense Variant in the SCN5A Gene 58
The Role of Genetic Factors in Characterizing Extra-Intestinal Manifestations in Crohn's Disease Patients: Are Bayesian Machine Learning Methods Improving Outcome Predictions? 56
Prospective study assessing MDM2 309 and p53 Arg72Pro single nucleotide polymorphism (SNPs) and clinical outcome in advanced lung cancer 55
I test genetici nella pratica clinica 53
Modeling the role of genetic factors in characterizing extra-intestinal manifestations in Crohn's disease patients: does this improve outcome predictions? 50
Ventricular conduction delay as marker of risk in Brugada Syndrome. Results from the analysis of clinical and electrocardiographic features of a large cohort of patients 49
Malignant pleural mesothelioma: Germline variants in DNA repair genes may steer tailored treatment 49
Bayesian Machine Learning Techniques for revealing complex interactions among genetic and clinical factors in association with extra-intestinal Manifestations in IBD patients 48
MDM2 309 and TP53 Arg72Pro single nucleotide polymorphisms (SNPs) and clinical outcome in advanced lung cancer patients 47
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls 46
RNASEL Arg462Gln is significantly associated with Prostate cancer in the Italian population 45
Diagnostics of BAP1-Tumor Predisposition Syndrome by a Multitesting Approach: A Ten-Year-Long Experience 41
MDM2 and TP53 are modifier genes of retinoblastoma 41
Primary hyperoxaluria in Italy: the past 30 years and the near future of a (not so) rare disease 38
Response to Stanich et al.: Correspondence regarding-PTEN hamartoma tumor syndromes in childhood-Description of two cases and a proposal for follow-up protocol. 29
The ILE56 mutation on different genetic backgrounds of alanine: Glyoxylate aminotransferase: Clinical features and biochemical characterization 26
Effects of eight neuropsychiatric copy number variants on human brain structure 24
Gingival Overgrowths Revealing PTEN Hamartoma Tumor Syndrome: Report of Novel PTEN Pathogenic Variants 10
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility 10
A clinical screening algorithm for primary hyperoxaluria type 1 in adults on dialysis 5
Glucocorticoid Receptor Polymorphism A3669G Is Associated with Airflow Obstruction in Mild-to-Severe Asthma 4
A case series of non-small cell lung cancer patients with EGFR or HER2 exon 20 insertion in Li Fraumeni syndrome 2
Totale 14.551
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Categoria #
all - tutte 33.005
article - articoli 0
book - libri 0
conference - conferenze 8.347
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 41.352
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20202.400 0 100 125 564 274 384 224 152 189 142 104 142
2020/20211.785 109 129 135 98 191 121 161 114 138 125 113 351
2021/20223.318 293 252 250 444 264 266 309 278 214 111 312 325
2022/20232.012 224 213 70 182 138 452 147 140 225 56 103 62
2023/20241.138 114 164 66 70 89 118 52 109 20 112 107 117
2024/202584 71 13 0 0 0 0 0 0 0 0 0 0
Totale 14.551