IRIS PubliCatt

Concolino, Paola
 Distribuzione geografica
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Continente #
EU - Europa 1.648
NA - Nord America 1.603
AS - Asia 509
AF - Africa 16
SA - Sud America 4
Continente sconosciuto - Info sul continente non disponibili 3
Totale 3.783
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Nazione #
US - Stati Uniti d'America 1.588
DE - Germania 593
SE - Svezia 334
CN - Cina 216
IT - Italia 177
UA - Ucraina 168
SG - Singapore 149
FR - Francia 85
IE - Irlanda 71
GB - Regno Unito 56
ID - Indonesia 48
FI - Finlandia 40
IN - India 36
RU - Federazione Russa 35
TR - Turchia 33
PL - Polonia 29
BE - Belgio 18
IR - Iran 16
CA - Canada 14
CI - Costa d'Avorio 13
NL - Olanda 10
CH - Svizzera 6
CZ - Repubblica Ceca 6
HK - Hong Kong 6
AT - Austria 4
BR - Brasile 3
EU - Europa 3
GR - Grecia 3
KE - Kenya 3
RO - Romania 3
RS - Serbia 3
TH - Thailandia 2
BZ - Belize 1
CO - Colombia 1
DK - Danimarca 1
EE - Estonia 1
ES - Italia 1
HR - Croazia 1
HU - Ungheria 1
IL - Israele 1
JP - Giappone 1
LK - Sri Lanka 1
NO - Norvegia 1
SK - Slovacchia (Repubblica Slovacca) 1
Totale 3.783
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Città #
Chandler 366
Ashburn 142
Singapore 116
Jacksonville 94
San Mateo 76
Dublin 69
Nanjing 63
Ann Arbor 60
Chicago 54
Jakarta 48
Wilmington 40
Milan 36
New York 35
Nürnberg 35
Boston 33
Izmir 32
Rome 32
Dearborn 31
Kraków 28
Moscow 28
Redwood City 25
Lawrence 24
Woodbridge 24
Houston 22
Cattolica 18
Seattle 18
Beijing 16
Marseille 16
Princeton 16
Los Angeles 15
Mountain View 15
Munich 15
Nanchang 15
Bremen 14
Brussels 14
Fairfield 14
University Park 14
Abidjan 13
Boardman 13
Detroit 12
Hebei 12
Kunming 12
Guangzhou 11
Lancaster 10
Zhengzhou 10
Fremont 9
Helsinki 9
Leawood 9
Enterprise 8
Hangzhou 8
Norwalk 8
Pune 8
Tianjin 8
Washington 7
Augusta 6
Jiaxing 6
Shanghai 6
Shenyang 6
Zurich 6
Brno 5
London 5
Toronto 5
Changsha 4
Kish 4
Lanzhou 4
Waanrode 4
Belgrade 3
Centrale 3
Changchun 3
Costa Mesa 3
Edinburgh 3
Hefei 3
Nairobi 3
Paris 3
Simi Valley 3
Triggiano 3
Winnipeg 3
Ardabil 2
Aversa 2
Cambridge 2
Casalpusterlengo 2
Chengdu 2
Clearwater 2
Coatbridge 2
Florence 2
Groningen 2
Hong Kong 2
Kashan 2
Markham 2
Monmouth Junction 2
Napoli 2
Parma 2
Philadelphia 2
Redmond 2
Sacramento 2
San Francisco 2
Sandston 2
Scottsdale 2
Tehran 2
Vienna 2
Totale 2.020
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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. 170
A novel MEN1 frameshift germline mutation in two Italian monozygotic twins 163
Comments to ``A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency{''} 151
Insight into a Novel p53 Single Point Mutation (G389E) by Molecular Dynamics Simulations 139
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 137
Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis 136
Acute haemolytic crisis due to concomitant presence of infection and possible altered acetaminophen catabolism in a Philipino child carrying the G6PD-Vanua Lava mutation 135
Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia 135
DNA from buccal swab is suitable for rapid genotyping of angiotensin-converting enzyme insertion/deletion (I/D) polymorphism 135
Serum levels of seven cytokines in premature ventilated newborns: correlations with old and new forms of bronchopulmonary dysplasia 131
Gene symbol: CYP21A2. Disease: Adrenal hyperplasia 121
Advanced tools for BRCA1/2 mutational screening: Comparison between two methods for large genomic rearrangements (LGRs) detection 106
Comparison between three molecular methods for detection of blood melanoma tyrosinase mRNA. Correlation with melanoma stages and S100B, LDH, NSE biochemical markers. 95
Co-inheritance of G6PD and PK deficiencies in a neonate carrying a Novel UGT1A1 genotype associated to Crigler-Najjar type II syndrome 93
GSTM1-null polymorphism as possible risk marker for hypertension: results from the aging and longevity study in the Sirente Geographic Area (ilSIRENTE study) 92
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 88
High Resolution Melting Analysis (HRMA) for the identification of a rare UGT1A1 promoter polymorphism 87
A Prolonged Neonatal Jaundice Associated With a Rare G6PD Mutation 85
Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in congenital adrenal hyperplasia: first technical report. 84
Interaction between GSTM1 genotype and IL-6 on mortality in older adults: results from the ilSIRENTE study 83
Interaction between GSTM1 genotype and IL-6 on mortality in older adults: results from the ilSIRENTE study. 83
Identification of RFLP G6PD mutations by using microcapillary electrophoretic chips (Experion(TM)). 82
Differentiated Thyroid Cancer in Two Patients with Resistance to Thyroid Hormone 82
CYP21A2 p.E238 Deletion as Result of Multiple Microconversion Events: A Genetic Study on an Italian Congenital Adrenal Hyperplasia (CAH) Family 82
Genes, pseudogenes and like genes: The case of 21-hydroxylase in Italian population 75
Rapid UGT1A1 (TA)(n) genotyping by high resolution melting curve analysis for Gilbert's syndrome diagnosis 73
Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations 73
BRCA testing delay during the COVID-19 pandemic: How to act? 68
Multiplex Ligation-Dependent Probe Amplification Analysis Is Useful for Diagnosing Congenital Adrenal Hyperplasia but Requires a Deep Knowledge of CYP21A2 Genetics 68
How the "A" to "C" conversion may create a new splice acceptor site? 66
Spliceogenic analysis of BRCA1 c.439T>C (rs794727800) variant by High Resolution Melting Analysis 63
First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy 62
A Novel Pathogenic Variant in the N-Terminal Domain of the Glucocorticoid Receptor, Causing Glucocorticoid Resistance 61
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification 56
Droplet digital PCR for large genomic rearrangements detection: A promising strategy in tissue BRCA1 testing 55
Spectrum of DICER1 Germline Pathogenic Variants in Ovarian Sertoli-Leydig Cell Tumor 54
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 50
A novel MEN1 pathogenic variant in an Italian patient with multiple endocrine neoplasia type 1 50
First Case of Mature Teratoma and Yolk Sac Testis Tumor Associated to Inherited MEN-1 Syndrome. 48
Tumor BRCA testing in ovarian cancer and EQA scheme: our experience of a critical evaluation 47
Molecular Analysis of 21-Hydroxylase Deficiency Reveals Two Novel Severe Genotypes in Affected Newborns 37
BRCA Mutation Status in Triple-Negative Breast Cancer Patients Treated with Neoadjuvant Chemotherapy: A Pivotal Role for Treatment Decision-Making 35
Clinical Reasoning: A Young Man With Subacute Onset of Spastic Paraparesis 33
A commentary on the discrepancy between blood and tumour BRCA testing: An open question 21
A Novel GCK Large Genomic Rearrangement in a Patient with MODY-2 Detected by Clinical Exome Sequencing 20
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 10
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability 9
Totale 3.829
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Categoria #
all - tutte 15.392
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 15.392
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020263 0 0 0 0 48 28 53 12 23 17 47 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
2024/2025233 16 29 79 36 73 0 0 0 0 0 0 0
Totale 3.829