IRIS UniCatt

Concolino, Paola
 Distribuzione geografica
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Continente #
NA - Nord America 2.582
EU - Europa 2.061
AS - Asia 1.923
SA - Sud America 316
AF - Africa 65
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 3
Totale 6.955
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Nazione #
US - Stati Uniti d'America 2.519
SG - Singapore 878
DE - Germania 670
CN - Cina 473
SE - Svezia 360
BR - Brasile 270
IT - Italia 248
VN - Vietnam 194
FR - Francia 185
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 39
RU - Federazione Russa 39
CA - Canada 32
JP - Giappone 28
BD - Bangladesh 25
IQ - Iraq 22
AR - Argentina 21
IR - Iran 19
NL - Olanda 19
BE - Belgio 18
CI - Costa d'Avorio 16
MX - Messico 16
ES - Italia 13
KR - Corea 13
AT - Austria 12
ZA - Sudafrica 10
CH - Svizzera 9
EG - Egitto 9
CZ - Repubblica Ceca 8
EC - Ecuador 8
KE - Kenya 8
JO - Giordania 7
LT - Lituania 7
AE - Emirati Arabi Uniti 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
CL - Cile 3
CO - Colombia 3
EU - Europa 3
GR - Grecia 3
KG - Kirghizistan 3
NP - Nepal 3
PA - Panama 3
RS - Serbia 3
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
SK - Slovacchia (Repubblica Slovacca) 2
SN - Senegal 2
TH - Thailandia 2
TJ - Tagikistan 2
AL - Albania 1
AZ - Azerbaigian 1
BB - Barbados 1
BG - Bulgaria 1
BN - Brunei Darussalam 1
BW - Botswana 1
BZ - Belize 1
CG - Congo 1
GN - Guinea 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
PE - Perù 1
PS - Palestinian Territory 1
PT - Portogallo 1
RW - Ruanda 1
SI - Slovenia 1
UY - Uruguay 1
ZM - Zambia 1
Totale 6.955
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Città #
Singapore 482
Chandler 366
Ashburn 307
San Jose 212
Jacksonville 95
Beijing 90
San Mateo 76
Dublin 72
Ho Chi Minh City 70
Los Angeles 64
Chicago 63
Nanjing 63
Ann Arbor 60
New York 60
Hefei 51
Jakarta 48
Milan 48
Hanoi 47
The Dalles 46
Rome 43
Lauterbourg 42
Wilmington 42
Boston 37
Frankfurt am Main 37
Nürnberg 35
Munich 33
Hong Kong 32
Izmir 32
Dearborn 31
Houston 29
Kraków 28
Moscow 28
Dallas 27
São Paulo 27
Redwood City 25
Tokyo 25
Lawrence 24
Woodbridge 24
Buffalo 21
Seattle 19
Cattolica 18
Helsinki 17
Marseille 17
Turku 17
Warsaw 17
Abidjan 16
Council Bluffs 16
Kent 16
Princeton 16
London 15
Mountain View 15
Nanchang 15
Orem 15
Boardman 14
Bremen 14
Brussels 14
Fairfield 14
Santa Clara 14
University Park 14
Kunming 13
Seoul 13
Detroit 12
Guangzhou 12
Hebei 12
Hyderabad 12
Nuremberg 11
Tianjin 11
Brooklyn 10
Lancaster 10
Montreal 10
Zhengzhou 10
Baghdad 9
Da Nang 9
Fremont 9
Hangzhou 9
Johannesburg 9
Leawood 9
Phoenix 9
Shanghai 9
Stockholm 9
Toronto 9
Chennai 8
Denver 8
Enterprise 8
Hải Dương 8
Nairobi 8
Norwalk 8
Paris 8
Pune 8
Zurich 8
Amman 7
Atlanta 7
Dhaka 7
Haiphong 7
Roubaix 7
San Francisco 7
Shenyang 7
St Louis 7
Washington 7
Augusta 6
Totale 3.622
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Nome #
Comments to ``A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency{''} 234
A new standardized absolute quantitative RT-PCR method for detection of tyrosinase mRNAs in melanoma patients: technical and operative instructions. 233
Insight into a Novel p53 Single Point Mutation (G389E) by Molecular Dynamics Simulations 219
Serum levels of seven cytokines in premature ventilated newborns: correlations with old and new forms of bronchopulmonary dysplasia 214
DNA from buccal swab is suitable for rapid genotyping of angiotensin-converting enzyme insertion/deletion (I/D) polymorphism 212
A novel MEN1 frameshift germline mutation in two Italian monozygotic twins 209
Acute haemolytic crisis due to concomitant presence of infection and possible altered acetaminophen catabolism in a Philipino child carrying the G6PD-Vanua Lava mutation 205
Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia 194
Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis 193
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 187
Advanced tools for BRCA1/2 mutational screening: Comparison between two methods for large genomic rearrangements (LGRs) detection 174
Gene symbol: CYP21A2. Disease: Adrenal hyperplasia 167
GSTM1-null polymorphism as possible risk marker for hypertension: results from the aging and longevity study in the Sirente Geographic Area (ilSIRENTE study) 156
Comparison between three molecular methods for detection of blood melanoma tyrosinase mRNA. Correlation with melanoma stages and S100B, LDH, NSE biochemical markers. 156
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 154
BRCA Mutation Status in Triple-Negative Breast Cancer Patients Treated with Neoadjuvant Chemotherapy: A Pivotal Role for Treatment Decision-Making 152
Genes, pseudogenes and like genes: The case of 21-hydroxylase in Italian population 150
High Resolution Melting Analysis (HRMA) for the identification of a rare UGT1A1 promoter polymorphism 149
CYP21A2 p.E238 Deletion as Result of Multiple Microconversion Events: A Genetic Study on an Italian Congenital Adrenal Hyperplasia (CAH) Family 147
Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations 144
Co-inheritance of G6PD and PK deficiencies in a neonate carrying a Novel UGT1A1 genotype associated to Crigler-Najjar type II syndrome 139
Differentiated Thyroid Cancer in Two Patients with Resistance to Thyroid Hormone 133
Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in congenital adrenal hyperplasia: first technical report. 133
Spliceogenic analysis of BRCA1 c.439T>C (rs794727800) variant by High Resolution Melting Analysis 133
Droplet digital PCR for large genomic rearrangements detection: A promising strategy in tissue BRCA1 testing 131
Spectrum of DICER1 Germline Pathogenic Variants in Ovarian Sertoli-Leydig Cell Tumor 131
Interaction between GSTM1 genotype and IL-6 on mortality in older adults: results from the ilSIRENTE study 129
Clinical Reasoning: A Young Man With Subacute Onset of Spastic Paraparesis 128
Identification of RFLP G6PD mutations by using microcapillary electrophoretic chips (Experion(TM)). 127
Rapid UGT1A1 (TA)(n) genotyping by high resolution melting curve analysis for Gilbert's syndrome diagnosis 126
BRCA testing delay during the COVID-19 pandemic: How to act? 125
Interaction between GSTM1 genotype and IL-6 on mortality in older adults: results from the ilSIRENTE study. 123
A Prolonged Neonatal Jaundice Associated With a Rare G6PD Mutation 122
Tumor BRCA testing in ovarian cancer and EQA scheme: our experience of a critical evaluation 122
Multiplex Ligation-Dependent Probe Amplification Analysis Is Useful for Diagnosing Congenital Adrenal Hyperplasia but Requires a Deep Knowledge of CYP21A2 Genetics 119
First Case of Mature Teratoma and Yolk Sac Testis Tumor Associated to Inherited MEN-1 Syndrome. 119
A Novel GCK Large Genomic Rearrangement in a Patient with MODY-2 Detected by Clinical Exome Sequencing 114
A Novel Pathogenic Variant in the N-Terminal Domain of the Glucocorticoid Receptor, Causing Glucocorticoid Resistance 113
First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy 106
A novel MEN1 pathogenic variant in an Italian patient with multiple endocrine neoplasia type 1 104
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability 104
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification 103
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 101
How the "A" to "C" conversion may create a new splice acceptor site? 98
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 89
Genes and Pseudogenes: Complexity of the RCCX Locus and Disease 78
Molecular Analysis of 21-Hydroxylase Deficiency Reveals Two Novel Severe Genotypes in Affected Newborns 77
An integrated multitool analysis contributes elements to interpreting unclassified factor IX missense variants associated with hemophilia B 73
A commentary on the discrepancy between blood and tumour BRCA testing: An open question 71
Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South–Central Italian Cohort 67
GAPO syndrome: a comprehensive examination and review of 105 clinical cases 37
Totale 7.024
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Categoria #
all - tutte 25.708
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 25.708
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021117 0 0 0 0 0 0 0 0 0 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
2025/20262.411 372 85 149 279 442 140 505 142 166 131 0 0
Totale 7.024