IRIS UniCatt

Concolino, Paola
 Distribuzione geografica
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Continente #
EU - Europa 1.817
NA - Nord America 1.732
AS - Asia 753
SA - Sud America 151
AF - Africa 23
Continente sconosciuto - Info sul continente non disponibili 3
OC - Oceania 2
Totale 4.481
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Nazione #
US - Stati Uniti d'America 1.703
DE - Germania 632
SE - Svezia 349
SG - Singapore 273
CN - Cina 272
IT - Italia 192
UA - Ucraina 169
BR - Brasile 139
FR - Francia 134
IE - Irlanda 71
GB - Regno Unito 67
IN - India 49
FI - Finlandia 48
ID - Indonesia 48
RU - Federazione Russa 39
TR - Turchia 35
PL - Polonia 34
CA - Canada 21
BE - Belgio 18
IR - Iran 16
NL - Olanda 14
CI - Costa d'Avorio 13
KR - Corea 13
AT - Austria 9
HK - Hong Kong 8
CH - Svizzera 7
CZ - Repubblica Ceca 7
AR - Argentina 6
AE - Emirati Arabi Uniti 5
ES - Italia 5
VN - Vietnam 5
JP - Giappone 4
RO - Romania 4
EU - Europa 3
GR - Grecia 3
KE - Kenya 3
KG - Kirghizistan 3
MX - Messico 3
PA - Panama 3
PK - Pakistan 3
RS - Serbia 3
UZ - Uzbekistan 3
AU - Australia 2
DK - Danimarca 2
DZ - Algeria 2
EC - Ecuador 2
EE - Estonia 2
EG - Egitto 2
IL - Israele 2
IQ - Iraq 2
NP - Nepal 2
SK - Slovacchia (Repubblica Slovacca) 2
TH - Thailandia 2
AZ - Azerbaigian 1
BD - Bangladesh 1
BN - Brunei Darussalam 1
BW - Botswana 1
BZ - Belize 1
CO - Colombia 1
CR - Costa Rica 1
HR - Croazia 1
HU - Ungheria 1
IS - Islanda 1
JO - Giordania 1
LK - Sri Lanka 1
LT - Lituania 1
LV - Lettonia 1
MA - Marocco 1
NO - Norvegia 1
PE - Perù 1
PH - Filippine 1
PY - Paraguay 1
SA - Arabia Saudita 1
TJ - Tagikistan 1
VE - Venezuela 1
ZA - Sudafrica 1
Totale 4.481
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Città #
Chandler 366
Singapore 160
Ashburn 147
Jacksonville 94
San Mateo 76
Dublin 69
Nanjing 63
Ann Arbor 60
Chicago 54
Jakarta 48
Wilmington 40
Milan 38
Rome 38
New York 37
Boston 35
Nürnberg 35
Izmir 32
Dearborn 31
Kraków 28
Moscow 28
Redwood City 25
Lawrence 24
Woodbridge 24
Los Angeles 23
Houston 22
The Dalles 20
Frankfurt am Main 19
Cattolica 18
Munich 18
Seattle 18
Beijing 17
Hefei 17
Helsinki 17
Marseille 16
Princeton 16
Mountain View 15
Nanchang 15
Boardman 14
Bremen 14
Brussels 14
Fairfield 14
São Paulo 14
University Park 14
Abidjan 13
Kunming 13
Seoul 13
Detroit 12
Hebei 12
Hyderabad 12
Guangzhou 11
Lancaster 10
Zhengzhou 10
Fremont 9
Leawood 9
Shanghai 9
Enterprise 8
Hangzhou 8
London 8
Norwalk 8
Nuremberg 8
Pune 8
Tianjin 8
Roubaix 7
Shenyang 7
Toronto 7
Washington 7
Augusta 6
Jiaxing 6
North Bergen 6
Zurich 6
Brno 5
Dubai 5
Düsseldorf 5
Lauterbourg 5
Santa Clara 5
Vienna 5
Changsha 4
Curitiba 4
Falkenstein 4
Hong Kong 4
Kish 4
Lanzhou 4
Phoenix 4
San Francisco 4
Waanrode 4
Warsaw 4
Americana 3
Belgrade 3
Bexley 3
Bishkek 3
Brasília 3
Centrale 3
Changchun 3
Costa Mesa 3
Edinburgh 3
Goiânia 3
Guarulhos 3
Ho Chi Minh City 3
Montreal 3
Nairobi 3
Totale 2.240
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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. 186
A novel MEN1 frameshift germline mutation in two Italian monozygotic twins 171
Comments to ``A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency{''} 169
Insight into a Novel p53 Single Point Mutation (G389E) by Molecular Dynamics Simulations 156
Acute haemolytic crisis due to concomitant presence of infection and possible altered acetaminophen catabolism in a Philipino child carrying the G6PD-Vanua Lava mutation 152
DNA from buccal swab is suitable for rapid genotyping of angiotensin-converting enzyme insertion/deletion (I/D) polymorphism 149
Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis 146
Serum levels of seven cytokines in premature ventilated newborns: correlations with old and new forms of bronchopulmonary dysplasia 145
Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia 145
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 142
Gene symbol: CYP21A2. Disease: Adrenal hyperplasia 129
Advanced tools for BRCA1/2 mutational screening: Comparison between two methods for large genomic rearrangements (LGRs) detection 123
GSTM1-null polymorphism as possible risk marker for hypertension: results from the aging and longevity study in the Sirente Geographic Area (ilSIRENTE study) 112
CYP21A2 p.E238 Deletion as Result of Multiple Microconversion Events: A Genetic Study on an Italian Congenital Adrenal Hyperplasia (CAH) Family 106
Comparison between three molecular methods for detection of blood melanoma tyrosinase mRNA. Correlation with melanoma stages and S100B, LDH, NSE biochemical markers. 105
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 104
Co-inheritance of G6PD and PK deficiencies in a neonate carrying a Novel UGT1A1 genotype associated to Crigler-Najjar type II syndrome 102
Differentiated Thyroid Cancer in Two Patients with Resistance to Thyroid Hormone 100
High Resolution Melting Analysis (HRMA) for the identification of a rare UGT1A1 promoter polymorphism 98
Genes, pseudogenes and like genes: The case of 21-hydroxylase in Italian population 97
Interaction between GSTM1 genotype and IL-6 on mortality in older adults: results from the ilSIRENTE study 96
Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations 96
A Prolonged Neonatal Jaundice Associated With a Rare G6PD Mutation 93
Identification of RFLP G6PD mutations by using microcapillary electrophoretic chips (Experion(TM)). 90
Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in congenital adrenal hyperplasia: first technical report. 90
Interaction between GSTM1 genotype and IL-6 on mortality in older adults: results from the ilSIRENTE study. 89
Rapid UGT1A1 (TA)(n) genotyping by high resolution melting curve analysis for Gilbert's syndrome diagnosis 88
BRCA testing delay during the COVID-19 pandemic: How to act? 82
Spliceogenic analysis of BRCA1 c.439T>C (rs794727800) variant by High Resolution Melting Analysis 77
How the "A" to "C" conversion may create a new splice acceptor site? 76
Multiplex Ligation-Dependent Probe Amplification Analysis Is Useful for Diagnosing Congenital Adrenal Hyperplasia but Requires a Deep Knowledge of CYP21A2 Genetics 76
A Novel Pathogenic Variant in the N-Terminal Domain of the Glucocorticoid Receptor, Causing Glucocorticoid Resistance 73
Droplet digital PCR for large genomic rearrangements detection: A promising strategy in tissue BRCA1 testing 71
Spectrum of DICER1 Germline Pathogenic Variants in Ovarian Sertoli-Leydig Cell Tumor 71
BRCA Mutation Status in Triple-Negative Breast Cancer Patients Treated with Neoadjuvant Chemotherapy: A Pivotal Role for Treatment Decision-Making 68
First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy 67
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification 65
First Case of Mature Teratoma and Yolk Sac Testis Tumor Associated to Inherited MEN-1 Syndrome. 65
A novel MEN1 pathogenic variant in an Italian patient with multiple endocrine neoplasia type 1 60
Clinical Reasoning: A Young Man With Subacute Onset of Spastic Paraparesis 57
Tumor BRCA testing in ovarian cancer and EQA scheme: our experience of a critical evaluation 56
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 55
Molecular Analysis of 21-Hydroxylase Deficiency Reveals Two Novel Severe Genotypes in Affected Newborns 45
A Novel GCK Large Genomic Rearrangement in a Patient with MODY-2 Detected by Clinical Exome Sequencing 41
A commentary on the discrepancy between blood and tumour BRCA testing: An open question 35
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 31
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability 29
Genes and Pseudogenes: Complexity of the RCCX Locus and Disease 20
An integrated multitool analysis contributes elements to interpreting unclassified factor IX missense variants associated with hemophilia B 16
Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South–Central Italian Cohort 16
Totale 4.531
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Categoria #
all - tutte 19.131
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 19.131
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202035 0 0 0 0 0 0 0 0 0 0 0 35
2020/2021412 15 37 22 35 43 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
2024/2025935 16 29 79 36 83 30 37 41 165 102 236 81
Totale 4.531