CINECA IRIS Institutional Research Information System

MANDRILE, Giorgia
 Distribuzione geografica
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Continente #
NA - Nord America 5.875
EU - Europa 4.083
AS - Asia 1.806
SA - Sud America 126
OC - Oceania 98
AF - Africa 64
Continente sconosciuto - Info sul continente non disponibili 7
Totale 12.059
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Nazione #
US - Stati Uniti d'America 5.700
IT - Italia 974
CN - Cina 792
DE - Germania 656
GB - Regno Unito 336
SG - Singapore 283
SE - Svezia 254
FR - Francia 250
IE - Irlanda 228
DK - Danimarca 181
ES - Italia 175
AT - Austria 163
IN - India 158
CA - Canada 148
FI - Finlandia 146
NL - Olanda 119
JP - Giappone 106
UA - Ucraina 98
BE - Belgio 89
PL - Polonia 87
AU - Australia 83
KR - Corea 78
BR - Brasile 71
TR - Turchia 70
CH - Svizzera 69
HK - Hong Kong 62
VN - Vietnam 54
RU - Federazione Russa 51
GR - Grecia 44
IL - Israele 34
ID - Indonesia 32
TW - Taiwan 29
RO - Romania 25
BA - Bosnia-Erzegovina 22
PT - Portogallo 22
AR - Argentina 21
CO - Colombia 21
CZ - Repubblica Ceca 19
MX - Messico 19
IR - Iran 17
PK - Pakistan 17
NZ - Nuova Zelanda 15
SA - Arabia Saudita 15
TN - Tunisia 13
AZ - Azerbaigian 12
EG - Egitto 11
HR - Croazia 11
NO - Norvegia 11
AE - Emirati Arabi Uniti 10
HU - Ungheria 10
SK - Slovacchia (Repubblica Slovacca) 10
LT - Lituania 9
TH - Thailandia 9
ZA - Sudafrica 9
MA - Marocco 8
PH - Filippine 8
SN - Senegal 8
JO - Giordania 7
BY - Bielorussia 5
CR - Costa Rica 5
DZ - Algeria 5
BG - Bulgaria 4
CL - Cile 4
EU - Europa 4
LV - Lettonia 4
RS - Serbia 4
SI - Slovenia 4
EC - Ecuador 3
LY - Libia 3
NG - Nigeria 3
PS - Palestinian Territory 3
A1 - Anonimo 2
GY - Guiana 2
KZ - Kazakistan 2
PE - Perù 2
PR - Porto Rico 2
AL - Albania 1
AP - ???statistics.table.value.countryCode.AP??? 1
BD - Bangladesh 1
CY - Cipro 1
EE - Estonia 1
IS - Islanda 1
KE - Kenya 1
KG - Kirghizistan 1
KW - Kuwait 1
LB - Libano 1
LK - Sri Lanka 1
MY - Malesia 1
PA - Panama 1
SC - Seychelles 1
SD - Sudan 1
TG - Togo 1
UY - Uruguay 1
UZ - Uzbekistan 1
VE - Venezuela 1
Totale 12.059
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Città #
Ann Arbor 794
Chandler 362
Beijing 316
Houston 286
Fairfield 262
Redwood City 230
Singapore 227
Dublin 224
Ashburn 203
Wilmington 196
Torino 195
Woodbridge 179
Vienna 156
Santa Clara 155
Seattle 148
Cambridge 137
Dearborn 103
Jacksonville 80
Villeurbanne 79
Pisa 78
Shanghai 74
Milan 70
Warsaw 67
Medford 61
Nyköping 56
Turin 56
Columbus 55
Princeton 54
Boston 49
New York 49
Amsterdam 46
Paris 46
Guangzhou 43
London 41
Fremont 40
Nanjing 40
Atlanta 36
Barcelona 35
Rome 35
Ottawa 33
Helsinki 31
Jakarta 31
Chicago 28
Dong Ket 28
Munich 28
Los Angeles 27
Madrid 27
Tokyo 27
Nürnberg 26
Wuhan 26
San Diego 25
Taipei 25
Brussels 23
Chennai 23
Duncan 23
Phoenix 22
Rochester 22
São Paulo 22
Athens 21
Boardman 19
Chengdu 19
Washington 19
Zurich 19
Ankara 18
Fleurus 18
Hong Kong 18
Seoul 18
Berlin 16
Bonn 16
Changsha 16
Toronto 16
Sarajevo 15
Waltham 15
Dallas 14
Denver 14
Genova 13
Hangzhou 13
Leawood 13
Madison 13
Manchester 13
Melbourne 13
Salt Lake City 13
Baku 12
Brescia 12
Cincinnati 12
Hefei 12
Istanbul 12
Lyndhurst 12
Montreal 12
Norwalk 12
Pittsburgh 12
Silver Spring 12
Sydney 12
Cleveland 11
Florence 11
Copenhagen 10
Frankfurt am Main 10
Piemonte 10
Shenzhen 10
Tianjin 10
Totale 6.446
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Nome #
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment 2.196
3q26.33-3q27.2 microdeletion: a new microdeletion syndrome? 583
Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria 537
Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type. 521
GERMLINE PROKINETICIN RECEPTOR 2 (PROKR2) VARIANTS ASSOCIATED WITH CENTRAL HYPOGONADISM CAUSE DIFFERENTAL MODULATION OF DISTINCT INTRACELLULAR PATHWAYS. 507
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia 481
A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns 438
NOTCH3 gene mutations in subjects clinically suspected of CADASIL 418
Heterozygous deletion of KLHL1/ATX8OS at the SCA8 locus is unlikely associated with cerebellar impairment in humans 375
The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity. 322
Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type I 307
BCLI POLYMORPHISM OF THE GLUCOCORTICOID RECEPTOR GENE IS ASSOCIATED WITH INCREASED OBESITY, IMPAIRED GLUCOSE TOLERANCE AND DYSLIPIDEMIA IN PATIENTS WITH ADDISON’S DISEASE 299
Bi-allelic MSH6 mutations in a case of early onset multiple primary tumors resembling Lynch and Turcot syndrome 284
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome 266
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 254
SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients. 236
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH. 209
Mapping and phasing of structural variation in patient genomes using nanopore sequencing 209
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes 202
Heterozygous deletion of KLHL1/ATXN8OS at the SCA8 locus are likely not associated with cerebellar impairment in humans 191
A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation. 183
S81 L and G170R mutations causing Primary Hyperoxaluria Type I in homozygosis and heterozygosis: an example of positive interallelic complementation. 179
Uromodulinopathies May Show a Wider Phenotypic Spectrum and Be Responsible of as Many as 3% of Unspecific ESRF Cases 160
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies 150
Primary hyperoxaluria: analysis of GRHPR, HOGA1 genes and the promoter-sequence of AGXT gene in the Italian population 147
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 145
Analysis of TP53 Arg72Pro and MDM2 SNP309 T>G polymorphisms as modifier factors in hereditary retinoblastoma 144
Primary hyperoxaluria: report of an Italian family with clear sex conditioned penetrance 143
9p deletion syndrome-like in a girl with a 9p insertion on chromosome 2 without 9p deletion 142
Novel human pathological mutations. Gene symbol: AGXT. Disease: hyperoxaluria 131
Prospective assessment of XPD Lys751Gln and XRCC1 Arg399Gln single nucleotide polymorphisms in lung cancer 128
Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH) 127
Primary hyperoxaluria in Italy 125
In Silico Modeling of Liver Metabolism in a Human Disease Reveals a Key Enzyme for Histidine and Histamine Homeostasis 120
Combined liver kidney transplantation for primary hyperoxaluria type 1: Will there still be a future? Current transplantation strategies and monocentric experience 118
Clinical and genetic study of primary hyperoxaluria in Italy 102
THE BURDEN OF MISDIAGNOSED RARE DISEASES IN RECIPIENT OF RENAL TRANSPLANTATION 97
A case report of type 1 brugada ECG exercise induced 97
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 96
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome) 83
Family-based whole exome sequencing allows a 25% diagnostic yield in patients with autism spectrum disorder 80
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 79
Doppia traslocazione (7;13 e 11;15) con delezione di 3.4 Mb in 13q12.2 associata ad ipotonia e ritardo dello sviluppo psicomotorio 76
Prospective study assessing MDM2 309 and p53 Arg72Pro single nucleotide polymorphism (SNPs) and clinical outcome in advanced lung cancer 62
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy 58
I test genetici nella pratica clinica 57
Primary hyperoxaluria in Italy: the past 30 years and the near future of a (not so) rare disease 55
MDM2 309 and TP53 Arg72Pro single nucleotide polymorphisms (SNPs) and clinical outcome in advanced lung cancer patients 54
DLG4-related synaptopathy: a new rare brain disorder 45
Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia 45
[Management of Primary Hyperoxaluria Type 1 in Italy] 41
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity 40
The ILE56 mutation on different genetic backgrounds of alanine: Glyoxylate aminotransferase: Clinical features and biochemical characterization 38
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype 35
Identification of the DNA methylation signature of Mowat-Wilson syndrome 28
A clinical screening algorithm for primary hyperoxaluria type 1 in adults on dialysis 10
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus 9
Totale 12.411
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Categoria #
all - tutte 26.093
article - articoli 0
book - libri 0
conference - conferenze 5.512
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 31.605
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020914 0 0 0 0 0 201 153 129 133 98 81 119
2020/20211.469 77 109 147 112 110 104 157 91 103 115 127 217
2021/20222.022 155 149 139 282 149 145 153 159 116 90 262 223
2022/20231.580 145 147 84 133 126 292 148 88 164 71 95 87
2023/20241.106 114 129 77 83 95 98 51 81 17 89 115 157
2024/20251.089 85 179 133 197 346 149 0 0 0 0 0 0
Totale 12.411