IRIS UniCatt

Concolino, Paola
 Distribuzione geografica
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Continente #
NA - Nord America 2.809
EU - Europa 2.114
AS - Asia 1.946
SA - Sud America 331
Continente sconosciuto - Info sul continente non disponibili 76
AF - Africa 65
OC - Oceania 5
Totale 7.346
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Nazione #
US - Stati Uniti d'America 2.737
SG - Singapore 885
DE - Germania 671
CN - Cina 477
SE - Svezia 360
IT - Italia 290
BR - Brasile 279
VN - Vietnam 194
FR - Francia 190
UA - Ucraina 170
GB - Regno Unito 87
IN - India 75
IE - Irlanda 74
FI - Finlandia 66
ID - Indonesia 53
TR - Turchia 48
PL - Polonia 47
HK - Hong Kong 44
RU - Federazione Russa 39
CA - Canada 38
BD - Bangladesh 31
JP - Giappone 29
AR - Argentina 22
IQ - Iraq 22
NL - Olanda 22
IR - Iran 19
BE - Belgio 18
CI - Costa d'Avorio 16
MX - Messico 16
ES - Italia 14
KR - Corea 13
AT - Austria 12
ZA - Sudafrica 10
CH - Svizzera 9
EC - Ecuador 9
EG - Egitto 9
CZ - Repubblica Ceca 8
KE - Kenya 8
JO - Giordania 7
LT - Lituania 7
AE - Emirati Arabi Uniti 6
CL - Cile 6
DZ - Algeria 6
PH - Filippine 6
PK - Pakistan 6
RO - Romania 6
SA - Arabia Saudita 6
AU - Australia 5
MA - Marocco 5
PY - Paraguay 5
UZ - Uzbekistan 5
JM - Giamaica 4
VE - Venezuela 4
CO - Colombia 3
EU - Europa 3
GR - Grecia 3
KG - Kirghizistan 3
NP - Nepal 3
PA - Panama 3
RS - Serbia 3
BB - Barbados 2
CR - Costa Rica 2
DK - Danimarca 2
DO - Repubblica Dominicana 2
EE - Estonia 2
ET - Etiopia 2
HN - Honduras 2
HR - Croazia 2
IL - Israele 2
MY - Malesia 2
PE - Perù 2
SI - Slovenia 2
SK - Slovacchia (Repubblica Slovacca) 2
SN - Senegal 2
TH - Thailandia 2
TJ - Tagikistan 2
AL - Albania 1
AZ - Azerbaigian 1
BG - Bulgaria 1
BN - Brunei Darussalam 1
BS - Bahamas 1
BW - Botswana 1
BZ - Belize 1
CG - Congo 1
GN - Guinea 1
GT - Guatemala 1
HU - Ungheria 1
IS - Islanda 1
KW - Kuwait 1
LK - Sri Lanka 1
LV - Lettonia 1
LY - Libia 1
MD - Moldavia 1
MN - Mongolia 1
NG - Nigeria 1
NO - Norvegia 1
PS - Palestinian Territory 1
PT - Portogallo 1
RW - Ruanda 1
SX - ???statistics.table.value.countryCode.SX??? 1
Totale 7.272
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Città #
Singapore 486
Chandler 366
Ashburn 334
San Jose 240
Jacksonville 95
Beijing 90
San Mateo 76
Dublin 72
Ho Chi Minh City 70
Chicago 66
Los Angeles 66
Nanjing 63
New York 62
Ann Arbor 60
Hefei 51
Milan 49
Jakarta 48
Hanoi 47
Rome 47
The Dalles 46
Wilmington 44
Lauterbourg 42
Boston 38
Frankfurt am Main 37
Hong Kong 37
Nürnberg 35
Munich 33
Izmir 32
Dearborn 31
Houston 31
Dallas 30
São Paulo 29
Kraków 28
Moscow 28
Redwood City 25
Tokyo 25
Lawrence 24
Woodbridge 24
Buffalo 21
Seattle 19
Boardman 18
Cattolica 18
Santa Clara 18
Helsinki 17
Marseille 17
Princeton 17
Turku 17
Warsaw 17
Abidjan 16
Council Bluffs 16
Kent 16
London 16
Orem 16
Mountain View 15
Nanchang 15
Bremen 14
Brussels 14
Fairfield 14
University Park 14
Kunming 13
Phoenix 13
Seoul 13
Detroit 12
Guangzhou 12
Hebei 12
Hyderabad 12
Brooklyn 11
Lancaster 11
Nuremberg 11
Shanghai 11
St Louis 11
Tianjin 11
Montreal 10
Toronto 10
Zhengzhou 10
Baghdad 9
Da Nang 9
Denver 9
Fremont 9
Hangzhou 9
Johannesburg 9
Leawood 9
Stockholm 9
Atlanta 8
Chennai 8
Enterprise 8
Hải Dương 8
Nairobi 8
Norwalk 8
Palermo 8
Paris 8
Pune 8
San Francisco 8
Zurich 8
Amman 7
Dhaka 7
Fortaleza 7
Haiphong 7
Roubaix 7
Shenyang 7
Totale 3.737
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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. 238
Comments to ``A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency{''} 235
Insight into a Novel p53 Single Point Mutation (G389E) by Molecular Dynamics Simulations 229
A novel MEN1 frameshift germline mutation in two Italian monozygotic twins 221
Serum levels of seven cytokines in premature ventilated newborns: correlations with old and new forms of bronchopulmonary dysplasia 219
DNA from buccal swab is suitable for rapid genotyping of angiotensin-converting enzyme insertion/deletion (I/D) polymorphism 214
Acute haemolytic crisis due to concomitant presence of infection and possible altered acetaminophen catabolism in a Philipino child carrying the G6PD-Vanua Lava mutation 211
Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis 197
Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia 196
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 192
Advanced tools for BRCA1/2 mutational screening: Comparison between two methods for large genomic rearrangements (LGRs) detection 181
Gene symbol: CYP21A2. Disease: Adrenal hyperplasia 174
Comparison between three molecular methods for detection of blood melanoma tyrosinase mRNA. Correlation with melanoma stages and S100B, LDH, NSE biochemical markers. 160
GSTM1-null polymorphism as possible risk marker for hypertension: results from the aging and longevity study in the Sirente Geographic Area (ilSIRENTE study) 159
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 158
BRCA Mutation Status in Triple-Negative Breast Cancer Patients Treated with Neoadjuvant Chemotherapy: A Pivotal Role for Treatment Decision-Making 157
High Resolution Melting Analysis (HRMA) for the identification of a rare UGT1A1 promoter polymorphism 155
CYP21A2 p.E238 Deletion as Result of Multiple Microconversion Events: A Genetic Study on an Italian Congenital Adrenal Hyperplasia (CAH) Family 155
Genes, pseudogenes and like genes: The case of 21-hydroxylase in Italian population 154
Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations 148
Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in congenital adrenal hyperplasia: first technical report. 145
Co-inheritance of G6PD and PK deficiencies in a neonate carrying a Novel UGT1A1 genotype associated to Crigler-Najjar type II syndrome 142
Spliceogenic analysis of BRCA1 c.439T>C (rs794727800) variant by High Resolution Melting Analysis 141
Spectrum of DICER1 Germline Pathogenic Variants in Ovarian Sertoli-Leydig Cell Tumor 141
Droplet digital PCR for large genomic rearrangements detection: A promising strategy in tissue BRCA1 testing 137
Differentiated Thyroid Cancer in Two Patients with Resistance to Thyroid Hormone 136
Interaction between GSTM1 genotype and IL-6 on mortality in older adults: results from the ilSIRENTE study 135
Rapid UGT1A1 (TA)(n) genotyping by high resolution melting curve analysis for Gilbert's syndrome diagnosis 133
Clinical Reasoning: A Young Man With Subacute Onset of Spastic Paraparesis 131
Identification of RFLP G6PD mutations by using microcapillary electrophoretic chips (Experion(TM)). 131
A Prolonged Neonatal Jaundice Associated With a Rare G6PD Mutation 129
Tumor BRCA testing in ovarian cancer and EQA scheme: our experience of a critical evaluation 129
BRCA testing delay during the COVID-19 pandemic: How to act? 128
First Case of Mature Teratoma and Yolk Sac Testis Tumor Associated to Inherited MEN-1 Syndrome. 127
Multiplex Ligation-Dependent Probe Amplification Analysis Is Useful for Diagnosing Congenital Adrenal Hyperplasia but Requires a Deep Knowledge of CYP21A2 Genetics 125
Interaction between GSTM1 genotype and IL-6 on mortality in older adults: results from the ilSIRENTE study. 124
A Novel GCK Large Genomic Rearrangement in a Patient with MODY-2 Detected by Clinical Exome Sequencing 123
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 115
A Novel Pathogenic Variant in the N-Terminal Domain of the Glucocorticoid Receptor, Causing Glucocorticoid Resistance 115
A novel MEN1 pathogenic variant in an Italian patient with multiple endocrine neoplasia type 1 113
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification 112
First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy 111
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability 110
How the "A" to "C" conversion may create a new splice acceptor site? 100
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 96
Genes and Pseudogenes: Complexity of the RCCX Locus and Disease 88
Molecular Analysis of 21-Hydroxylase Deficiency Reveals Two Novel Severe Genotypes in Affected Newborns 84
An integrated multitool analysis contributes elements to interpreting unclassified factor IX missense variants associated with hemophilia B 77
A commentary on the discrepancy between blood and tumour BRCA testing: An open question 77
Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South–Central Italian Cohort 75
GAPO syndrome: a comprehensive examination and review of 105 clinical cases 52
Identification of a False-positive Multiplex Ligation-dependent Probe Amplification Result in BRCA1 Using a Copy Number Variation Algorithm Under Development for a Commercial Next-Generation Sequencing-based Homologous Recombination Deficiency Assay 5
Detection of Clinically Significant BRCA Large Genomic Rearrangements in FFPE Ovarian Cancer Samples: A Comparative NGS Study 3
Enhanced Detection of BRCA Copy Number Alterations Within a Commercial HRD Assay: Implications for Precision Oncology in Ovarian Cancer 3
Totale 7.346
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Categoria #
all - tutte 28.858
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 28.858
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022387 0 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
2025/20262.585 372 85 149 279 442 140 505 142 166 167 84 54
2026/2027148 77 71 0 0 0 0 0 0 0 0 0 0
Totale 7.346