CINECA IRIS Institutional Research Information System

GIACHINO, Daniela Francesca
 Distribuzione geografica
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Continente #
NA - Nord America 8.402
EU - Europa 4.724
AS - Asia 2.346
SA - Sud America 125
OC - Oceania 108
AF - Africa 51
Continente sconosciuto - Info sul continente non disponibili 2
Totale 15.758
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Nazione #
US - Stati Uniti d'America 8.228
IT - Italia 1.355
CN - Cina 1.015
DE - Germania 541
SG - Singapore 537
SE - Svezia 401
DK - Danimarca 399
IE - Irlanda 345
FR - Francia 275
FI - Finlandia 212
GB - Regno Unito 206
UA - Ucraina 191
AT - Austria 156
CA - Canada 149
KR - Corea 127
JP - Giappone 117
IN - India 113
ES - Italia 105
AU - Australia 98
PL - Polonia 98
VN - Vietnam 96
NL - Olanda 76
BR - Brasile 75
HK - Hong Kong 68
BE - Belgio 65
RU - Federazione Russa 59
GR - Grecia 53
CH - Svizzera 51
ID - Indonesia 51
TR - Turchia 41
IR - Iran 30
PT - Portogallo 29
TW - Taiwan 28
RO - Romania 25
PH - Filippine 22
AR - Argentina 20
IL - Israele 19
MX - Messico 15
CZ - Repubblica Ceca 14
LT - Lituania 13
SN - Senegal 13
PK - Pakistan 12
SA - Arabia Saudita 12
CO - Colombia 11
NZ - Nuova Zelanda 10
MA - Marocco 8
CL - Cile 7
CY - Cipro 7
HR - Croazia 7
BA - Bosnia-Erzegovina 6
CU - Cuba 6
HU - Ungheria 6
IQ - Iraq 6
KZ - Kazakistan 6
NO - Norvegia 6
SI - Slovenia 6
TH - Thailandia 6
UZ - Uzbekistan 6
ZA - Sudafrica 6
EG - Egitto 5
LU - Lussemburgo 5
NG - Nigeria 5
TN - Tunisia 5
UY - Uruguay 5
AE - Emirati Arabi Uniti 4
BH - Bahrain 4
LV - Lettonia 4
MY - Malesia 4
QA - Qatar 4
DZ - Algeria 3
MT - Malta 3
PE - Perù 3
RS - Serbia 3
SY - Repubblica araba siriana 3
EE - Estonia 2
EU - Europa 2
GY - Guiana 2
KE - Kenya 2
KG - Kirghizistan 2
PR - Porto Rico 2
PY - Paraguay 2
SC - Seychelles 2
SK - Slovacchia (Repubblica Slovacca) 2
AL - Albania 1
BD - Bangladesh 1
BG - Bulgaria 1
BY - Bielorussia 1
CR - Costa Rica 1
ET - Etiopia 1
IS - Islanda 1
JM - Giamaica 1
KW - Kuwait 1
LA - Repubblica Popolare Democratica del Laos 1
LI - Liechtenstein 1
LK - Sri Lanka 1
NP - Nepal 1
SD - Sudan 1
TJ - Tagikistan 1
Totale 15.758
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Città #
Ann Arbor 1.996
Chandler 594
Beijing 496
Fairfield 408
Houston 388
Singapore 385
Dublin 343
Ashburn 320
Santa Clara 307
Wilmington 289
Torino 271
Woodbridge 243
Seattle 198
Dearborn 182
Redwood City 182
Cambridge 150
Vienna 147
Jacksonville 140
Villeurbanne 116
Pisa 108
Nyköping 106
Medford 101
Princeton 98
Turin 94
Columbus 93
Milan 79
Warsaw 78
Ottawa 71
Shanghai 69
Fremont 68
Dong Ket 62
New York 52
Boston 51
Guangzhou 49
Nanjing 49
Jakarta 47
Rome 35
Helsinki 34
Los Angeles 34
Tokyo 33
Mountain View 32
San Diego 30
Hangzhou 28
Wuhan 28
London 27
Silver Spring 27
Boardman 26
Hong Kong 26
Brussels 23
Paris 23
Barcelona 22
Chicago 22
Taipei 22
Florence 20
Washington 20
Hefei 19
Munich 19
Seoul 19
Chengdu 18
Fleurus 18
Nuremberg 18
Phoenix 18
Falls Church 17
Lappeenranta 17
Madrid 17
Norwalk 17
Toronto 17
Dallas 16
Edinburgh 16
Jinan 16
São Paulo 16
Athens 15
Kunming 15
Bologna 14
Genova 14
Lisbon 14
Melbourne 14
New Delhi 14
Atlanta 13
Modena 13
Sydney 13
Amsterdam 12
Bethesda 12
Central District 12
Frankfurt am Main 12
Senigallia 12
Shenyang 12
Belfast 11
Buffalo 11
Changsha 11
Chennai 11
Perth 11
Pune 11
Rochester 11
Salt Lake City 11
Shenzhen 11
Verona 11
Ankara 10
Arezzo 10
Leawood 10
Totale 9.571
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Nome #
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome 833
Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria 543
Usefulness of exercise test in the diagnosis of short QT syndrome 528
Atrial fibrillation in a large population with Brugada electrocardiographic pattern: prevalence, management, and correlation with prognosis 526
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia 484
NOTCH3 gene mutations in subjects clinically suspected of CADASIL 426
Heterozygous deletion of KLHL1/ATX8OS at the SCA8 locus is unlikely associated with cerebellar impairment in humans 381
RAS mutations are the predominant molecular alteration in poorly differentiated thyroid carcinomas and bear prognostic impact 362
The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity. 332
Detection of EGFR mutations in archival lung cancer samples by pyrosequencing 329
BCLI POLYMORPHISM OF THE GLUCOCORTICOID RECEPTOR GENE IS ASSOCIATED WITH INCREASED OBESITY, IMPAIRED GLUCOSE TOLERANCE AND DYSLIPIDEMIA IN PATIENTS WITH ADDISON’S DISEASE 302
Differential regulation of interleukin 12 and interleukin 23 production in human dendritic cells 294
Bi-allelic MSH6 mutations in a case of early onset multiple primary tumors resembling Lynch and Turcot syndrome 289
p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma 271
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome 269
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 261
Mammalian target of rapamycin pathway activation is associated to RET mutation status in medullary thyroid carcinoma. 252
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome 252
SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients. 244
Analysis of BCLI, N363S and ER22/23EK polymorphisms of the glucocorticoid receptor gene in adrenal incidentalomas 241
Mapping and phasing of structural variation in patient genomes using nanopore sequencing 214
The lack of effect of sotalol in short QT syndrome patients carrying the T618I mutation in the KCNH2 gene 205
Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study 200
Heterozygous deletion of KLHL1/ATXN8OS at the SCA8 locus are likely not associated with cerebellar impairment in humans 195
A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation. 189
Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis. 188
Detection and characterization of classical and "uncommon" exon 19 Epidermal Growth Factor Receptor mutations in lung cancer by pyrosequencing 185
S81 L and G170R mutations causing Primary Hyperoxaluria Type I in homozygosis and heterozygosis: an example of positive interallelic complementation. 183
Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience 177
Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case 174
Analysis of the CARD15 variants R702W, G908R and L1007fs in Italian IBD patients 172
PTEN hamartoma tumor syndromes in childhood: Description of two cases and a proposal for follow-up protocol 164
Uromodulinopathies May Show a Wider Phenotypic Spectrum and Be Responsible of as Many as 3% of Unspecific ESRF Cases 162
Analysis of BclI, N363S and ER22/23EK polymorphism of the glucocorticoid receptor gene in a large series of patients with adrenal incidentaloma 160
Urinary secretion and extracellular aggregation of mutant uromodulin isoforms. 157
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms 155
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies 152
Primary hyperoxaluria: analysis of GRHPR, HOGA1 genes and the promoter-sequence of AGXT gene in the Italian population 148
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases 147
The Italian Multicenter Study of Primary Hyperoxaluria 146
Analysis of TP53 Arg72Pro and MDM2 SNP309 T>G polymorphisms as modifier factors in hereditary retinoblastoma 145
Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations 145
9p deletion syndrome-like in a girl with a 9p insertion on chromosome 2 without 9p deletion 144
Primary hyperoxaluria: report of an Italian family with clear sex conditioned penetrance 144
A new CARD15 mutation in Blau syndrome 140
Autosomal dominant Alport syndrome: molecular analysis of theCOL4A4 gene and clinical outcome 140
Novel human pathological mutations. Gene symbol: AGXT. Disease: hyperoxaluria 133
Workload measurement for molecular genetics laboratory: A survey study 133
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene 130
Prospective assessment of XPD Lys751Gln and XRCC1 Arg399Gln single nucleotide polymorphisms in lung cancer 129
Primary hyperoxaluria in Italy 129
Primary Hyperoxaluria Type 1 with Homozygosity for a Double-mutated AGXT Allele in a 2-year-old Child 129
Short QT syndrome 128
Stage IB malignant thymoma in a Lynch syndrome patient with multiple cancers: response to incidental administration of oxaliplatin and 5-fluorouracil 128
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility 127
Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations. 120
SINGLE NUCLEOTIDE POLYMORPHISMS (SNP) AND HAPLOTYPES IN PSA PROMOTER: A NEW PROMISING PROSTATE CANCER SUSCEPTIBILITY AND PROGNOSIS PREDICTOR TOOL 118
USE OF CLINICAL EXOME SEQUENCING IN THE DIAGNOSTIC FLOW OF MONOGENIC KIDNEY DISEASES: THE PIEDMONT EXPERIENCE 118
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals 115
ASSOCIATION BETWEEN RS12917707 SINGLE NUCLEOTIDE POLYMORPHISM AT THE UMOD PROMOTER REGION AND SERUM UROMODULIN LEVELS: IMPLICATIONS IN KIDNEY TRANSPLANTATION 113
GLUCOCORTICOID RECEPTOR POLYMORPHISMS AND METABOLIC-CARDIOVASCULAR PROFILE IN PATIENTS WITH ADDISON’S DISEASE UNDER REPLACEMENT THERAPY 107
NOVEL AND KNOWN MUTATIONS IDENTIFIED BY CLINICAL EXOME SEQUENCING FOR THE DIAGNOSIS OF POLYCYSTIC KIDNEY DISEASE 107
Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations. 106
A case report of type 1 brugada ECG exercise induced 106
Clinical and genetic study of primary hyperoxaluria in Italy 102
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 102
null 100
THE BURDEN OF MISDIAGNOSED RARE DISEASES IN RECIPIENT OF RENAL TRANSPLANTATION 99
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 97
Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants 92
RNASEL R462Q is significantly associated with Prostate Cancer in the Italian population 90
Mutation analysis of the MSH6 gene in 52 MLH1/MSH2-negative, HNPCC suspect Italian patients 87
Long-term follow-up and predictors of arrhythmic events in the brugada registry of the piedmont region of Italy 86
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations 84
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 81
Peritoneal Dialysis and platelet infusion can be effective for MNGIE relapsing neuropathy not responding to intravenous high-dose gammaglobulin (IVIG) 78
Doppia traslocazione (7;13 e 11;15) con delezione di 3.4 Mb in 13q12.2 associata ad ipotonia e ritardo dello sviluppo psicomotorio 78
Mutant uromodulin is secreted in the urine of patients with familial hyperuricemic nephropathy and induces the formation of extracellular aggregates. 75
Malignant pleural mesothelioma: Germline variants in DNA repair genes may steer tailored treatment 72
Genotype-Phenotype Correlation in a Family with Brugada Syndrome Harboring the Novel p.Gln371* Nonsense Variant in the SCN5A Gene 68
The Role of Genetic Factors in Characterizing Extra-Intestinal Manifestations in Crohn's Disease Patients: Are Bayesian Machine Learning Methods Improving Outcome Predictions? 66
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 64
Prospective study assessing MDM2 309 and p53 Arg72Pro single nucleotide polymorphism (SNPs) and clinical outcome in advanced lung cancer 63
Bayesian Machine Learning Techniques for revealing complex interactions among genetic and clinical factors in association with extra-intestinal Manifestations in IBD patients 63
RNASEL Arg462Gln is significantly associated with Prostate cancer in the Italian population 61
Diagnostics of BAP1-Tumor Predisposition Syndrome by a Multitesting Approach: A Ten-Year-Long Experience 60
I test genetici nella pratica clinica 59
MDM2 and TP53 are modifier genes of retinoblastoma 58
Modeling the role of genetic factors in characterizing extra-intestinal manifestations in Crohn's disease patients: does this improve outcome predictions? 58
MDM2 309 and TP53 Arg72Pro single nucleotide polymorphisms (SNPs) and clinical outcome in advanced lung cancer patients 56
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls 56
Primary hyperoxaluria in Italy: the past 30 years and the near future of a (not so) rare disease 56
The ILE56 mutation on different genetic backgrounds of alanine: Glyoxylate aminotransferase: Clinical features and biochemical characterization 39
Response to Stanich et al.: Correspondence regarding-PTEN hamartoma tumor syndromes in childhood-Description of two cases and a proposal for follow-up protocol. 36
Effects of eight neuropsychiatric copy number variants on human brain structure 34
Gingival Overgrowths Revealing PTEN Hamartoma Tumor Syndrome: Report of Novel PTEN Pathogenic Variants 30
A case series of non-small cell lung cancer patients with EGFR or HER2 exon 20 insertion in Li Fraumeni syndrome 21
Glucocorticoid Receptor Polymorphism A3669G Is Associated with Airflow Obstruction in Mild-to-Severe Asthma 20
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility 18
A clinical screening algorithm for primary hyperoxaluria type 1 in adults on dialysis 13
Totale 16.248
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Categoria #
all - tutte 40.282
article - articoli 0
book - libri 0
conference - conferenze 10.280
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 50.562
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020577 0 0 0 0 0 0 0 0 189 142 104 142
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
2024/20251.781 71 199 127 222 591 214 128 164 65 0 0 0
Totale 16.248