IRIS UniCatt

Concolino, Paola
 Distribuzione geografica
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Continente #
NA - Nord America 2.116
EU - Europa 1.954
AS - Asia 1.503
SA - Sud America 291
AF - Africa 46
OC - Oceania 4
Continente sconosciuto - Info sul continente non disponibili 3
Totale 5.917
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Nazione #
US - Stati Uniti d'America 2.062
SG - Singapore 723
DE - Germania 661
CN - Cina 439
SE - Svezia 359
BR - Brasile 253
IT - Italia 215
UA - Ucraina 169
FR - Francia 143
GB - Regno Unito 85
IE - Irlanda 71
FI - Finlandia 66
IN - India 66
VN - Vietnam 55
ID - Indonesia 51
PL - Polonia 44
TR - Turchia 44
RU - Federazione Russa 39
CA - Canada 28
AR - Argentina 19
BE - Belgio 18
IR - Iran 17
BD - Bangladesh 16
NL - Olanda 16
CI - Costa d'Avorio 15
HK - Hong Kong 15
IQ - Iraq 13
KR - Corea 13
MX - Messico 13
AT - Austria 12
JP - Giappone 11
ES - Italia 9
CZ - Repubblica Ceca 8
EC - Ecuador 8
CH - Svizzera 7
AE - Emirati Arabi Uniti 6
EG - Egitto 6
RO - Romania 6
ZA - Sudafrica 6
KE - Kenya 5
LT - Lituania 5
AU - Australia 4
DZ - Algeria 4
JO - Giordania 4
MA - Marocco 4
PY - Paraguay 4
SA - Arabia Saudita 4
UZ - Uzbekistan 4
EU - Europa 3
GR - Grecia 3
JM - Giamaica 3
KG - Kirghizistan 3
PA - Panama 3
PH - Filippine 3
PK - Pakistan 3
RS - Serbia 3
VE - Venezuela 3
CO - Colombia 2
DK - Danimarca 2
DO - Repubblica Dominicana 2
EE - Estonia 2
ET - Etiopia 2
HN - Honduras 2
IL - Israele 2
NP - Nepal 2
SK - Slovacchia (Repubblica Slovacca) 2
TH - Thailandia 2
TJ - Tagikistan 2
AZ - Azerbaigian 1
BB - Barbados 1
BG - Bulgaria 1
BN - Brunei Darussalam 1
BW - Botswana 1
BZ - Belize 1
CG - Congo 1
CR - Costa Rica 1
GN - Guinea 1
HR - Croazia 1
HU - Ungheria 1
IS - Islanda 1
KW - Kuwait 1
LK - Sri Lanka 1
LV - Lettonia 1
MD - Moldavia 1
NO - Norvegia 1
PE - Perù 1
PS - Palestinian Territory 1
PT - Portogallo 1
SI - Slovenia 1
SN - Senegal 1
UY - Uruguay 1
Totale 5.917
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Città #
Chandler 366
Singapore 335
Ashburn 220
Jacksonville 95
Beijing 86
San Mateo 76
Dublin 69
Nanjing 63
Chicago 62
Ann Arbor 60
Los Angeles 59
New York 57
Hefei 51
Jakarta 48
Milan 44
Wilmington 42
Rome 40
Boston 37
Nürnberg 35
Munich 33
Izmir 32
Dearborn 31
Frankfurt am Main 31
Houston 29
Kraków 28
Moscow 28
Dallas 27
São Paulo 26
Redwood City 25
Lawrence 24
Woodbridge 24
Ho Chi Minh City 23
The Dalles 23
Buffalo 21
Seattle 19
Cattolica 18
Helsinki 17
Turku 17
Kent 16
Marseille 16
Princeton 16
Abidjan 15
Hanoi 15
Mountain View 15
Nanchang 15
Boardman 14
Bremen 14
Brussels 14
Fairfield 14
University Park 14
Warsaw 14
Kunming 13
London 13
Seoul 13
Detroit 12
Hebei 12
Hyderabad 12
Guangzhou 11
Hong Kong 11
Brooklyn 10
Lancaster 10
Tianjin 10
Zhengzhou 10
Fremont 9
Hangzhou 9
Leawood 9
Nuremberg 9
Shanghai 9
Tokyo 9
Toronto 9
Enterprise 8
Norwalk 8
Orem 8
Pune 8
Stockholm 8
Chennai 7
Montreal 7
Phoenix 7
Roubaix 7
San Francisco 7
Santa Clara 7
Shenyang 7
Washington 7
Augusta 6
Denver 6
Dubai 6
Jiaxing 6
North Bergen 6
Vienna 6
Zurich 6
Atlanta 5
Brasília 5
Brno 5
Düsseldorf 5
Goiânia 5
Johannesburg 5
Lauterbourg 5
Nairobi 5
Paris 5
Amman 4
Totale 2.900
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Nome #
A new standardized absolute quantitative RT-PCR method for detection of tyrosinase mRNAs in melanoma patients: technical and operative instructions. 217
Comments to ``A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency{''} 202
A novel MEN1 frameshift germline mutation in two Italian monozygotic twins 191
Serum levels of seven cytokines in premature ventilated newborns: correlations with old and new forms of bronchopulmonary dysplasia 189
Insight into a Novel p53 Single Point Mutation (G389E) by Molecular Dynamics Simulations 189
DNA from buccal swab is suitable for rapid genotyping of angiotensin-converting enzyme insertion/deletion (I/D) polymorphism 188
Acute haemolytic crisis due to concomitant presence of infection and possible altered acetaminophen catabolism in a Philipino child carrying the G6PD-Vanua Lava mutation 185
Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis 173
Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia 171
A preliminary Quality Control (QC) for next generation sequencing (NGS) library evaluation turns out to be a very useful tool for a rapid detection of BRCA1/2 deleterious mutations 164
Gene symbol: CYP21A2. Disease: Adrenal hyperplasia 155
Advanced tools for BRCA1/2 mutational screening: Comparison between two methods for large genomic rearrangements (LGRs) detection 155
Insulin-like growth factor I (CA) repeats are associated with higher melanoma's Breslow index but not associated with the presence of the melanoma. A pilot study 138
GSTM1-null polymorphism as possible risk marker for hypertension: results from the aging and longevity study in the Sirente Geographic Area (ilSIRENTE study) 137
Comparison between three molecular methods for detection of blood melanoma tyrosinase mRNA. Correlation with melanoma stages and S100B, LDH, NSE biochemical markers. 137
CYP21A2 p.E238 Deletion as Result of Multiple Microconversion Events: A Genetic Study on an Italian Congenital Adrenal Hyperplasia (CAH) Family 130
Genes, pseudogenes and like genes: The case of 21-hydroxylase in Italian population 128
Co-inheritance of G6PD and PK deficiencies in a neonate carrying a Novel UGT1A1 genotype associated to Crigler-Najjar type II syndrome 123
High Resolution Melting Analysis (HRMA) for the identification of a rare UGT1A1 promoter polymorphism 122
Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations 122
Differentiated Thyroid Cancer in Two Patients with Resistance to Thyroid Hormone 121
BRCA Mutation Status in Triple-Negative Breast Cancer Patients Treated with Neoadjuvant Chemotherapy: A Pivotal Role for Treatment Decision-Making 120
Interaction between GSTM1 genotype and IL-6 on mortality in older adults: results from the ilSIRENTE study 119
Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in congenital adrenal hyperplasia: first technical report. 115
Identification of RFLP G6PD mutations by using microcapillary electrophoretic chips (Experion(TM)). 114
Interaction between GSTM1 genotype and IL-6 on mortality in older adults: results from the ilSIRENTE study. 112
Spliceogenic analysis of BRCA1 c.439T>C (rs794727800) variant by High Resolution Melting Analysis 112
A Prolonged Neonatal Jaundice Associated With a Rare G6PD Mutation 109
BRCA testing delay during the COVID-19 pandemic: How to act? 108
Rapid UGT1A1 (TA)(n) genotyping by high resolution melting curve analysis for Gilbert's syndrome diagnosis 105
Clinical Reasoning: A Young Man With Subacute Onset of Spastic Paraparesis 102
Droplet digital PCR for large genomic rearrangements detection: A promising strategy in tissue BRCA1 testing 101
Tumor BRCA testing in ovarian cancer and EQA scheme: our experience of a critical evaluation 100
A Novel Pathogenic Variant in the N-Terminal Domain of the Glucocorticoid Receptor, Causing Glucocorticoid Resistance 99
Multiplex Ligation-Dependent Probe Amplification Analysis Is Useful for Diagnosing Congenital Adrenal Hyperplasia but Requires a Deep Knowledge of CYP21A2 Genetics 98
First Case of Mature Teratoma and Yolk Sac Testis Tumor Associated to Inherited MEN-1 Syndrome. 98
Spectrum of DICER1 Germline Pathogenic Variants in Ovarian Sertoli-Leydig Cell Tumor 97
How the "A" to "C" conversion may create a new splice acceptor site? 89
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification 87
A Novel GCK Large Genomic Rearrangement in a Patient with MODY-2 Detected by Clinical Exome Sequencing 85
First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy 85
A novel MEN1 pathogenic variant in an Italian patient with multiple endocrine neoplasia type 1 84
46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation of CYP17A1 Gene: Consequences of Late Diagnosis 83
Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family 68
Molecular Analysis of 21-Hydroxylase Deficiency Reveals Two Novel Severe Genotypes in Affected Newborns 67
Genes and Pseudogenes: Complexity of the RCCX Locus and Disease 62
A commentary on the discrepancy between blood and tumour BRCA testing: An open question 58
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability 54
Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South–Central Italian Cohort 49
An integrated multitool analysis contributes elements to interpreting unclassified factor IX missense variants associated with hemophilia B 47
GAPO syndrome: a comprehensive examination and review of 105 clinical cases 4
Totale 5.968
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Categoria #
all - tutte 23.637
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 23.637
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021260 0 0 0 0 0 26 54 14 49 30 69 18
2021/2022407 20 41 10 38 33 9 5 71 26 21 47 86
2022/20231.043 113 159 90 138 65 126 42 87 113 40 34 36
2023/2024441 30 112 14 18 37 63 22 24 9 16 34 62
2024/20251.017 16 29 79 36 83 30 37 41 165 102 236 163
2025/20261.355 372 85 149 279 442 28 0 0 0 0 0 0
Totale 5.968