IRIS
LANTIERI, FRANCESCA
 Distribuzione geografica
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Continente #
EU - Europa 6.046
Totale 6.046
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Nazione #
IT - Italia 6.046
Totale 6.046
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Città #
Genova 4.537
Rapallo 494
Genoa 476
Vado Ligure 294
Bordighera 245
Totale 6.046
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Nome #
Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome 354
A prospective observational study of associated anomalies in Hirschsprung's disease. 152
The impact of stapled transanal rectal resection on anorectal function in patients with obstructed defecation syndrome 151
The involvement of the RET variant G691S in medullary thyroid carcinoma: Conflicting results of meta-analyses need to be reconciled 146
TNF-α gene polymorphisms: association with disease susceptibility and response to anti-TNF-α treatment in psoriatic arthritis 140
Beneficial effects of long-term treatment with bosentan on the development of pulmonary arterial hypertension in patients with systemic sclerosis 138
Analysis of GWAS top hits in ADHD suggests association to two polymorphisms located in genes expressed in the cerebellum 137
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability 137
Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes 134
Gly101Trp germline mutation in the CDKN2A gene in familial and non familial Ligurian melanoma patients 132
Prevalence of erectile dysfunction in a cohort of Italian hypertensive subjects 132
Nocturnal enuresis: a suggestive endophenotype marker for a subgroup of inattentive attention-deficit/hyperactivity disorder 132
CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation 130
Measurement of sorafenib plasma concentration by high-performance liquid chromatography in patients with advanced hepatocellular carcinoma: is it useful the application in clinical practice? A pilot study 130
Candidate gene analysis in an on-going genome-wide association study of attention-deficit hyperactivity disorder: suggestive association signals in ADRA1A 126
Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease. 126
Behavior of soluble HLA-A, -B, -C and HLA-G molecules in patients with chronic hepatitis C virus infection undergoing pegylated interferon-α and ribavirin treatment: potential role as markers of response to antiviral therapy 125
Relevance of CD38 expression on CD8 T cells to evaluate antiretroviral therapy response in HIV-1-infected youths 125
Behavior of serum human major histocompatibility complex class I antigen levels in human immunodeficiency virus-infected patients during antiretroviral therapy: correlation with clinical outcome 122
Induction of RET dependent and independent pro-inflammatory programs in human peripheral blood mononuclear cells from Hirschsprung patients. 122
Custom Array Comparative Genomic Hybridization: the Importance of DNA Quality, an Expert Eye, and Variant Validation. 119
Varianti polimorfiche del gene MC1R (Melanocortin receptor 1) nella popolazione ligure ed associazione con il rischio di melanoma 113
Incorporating prior biological information in linkage studies increases power and limits multiple testing 113
Novel MC1R variants in Ligurian melanoma patients and controls 111
A COMMON HAPLOTYPE AT THE 5' END OF THE RET PROTO-ONCOGENE, OVERREPRESENTED IN HIRSCHSPRUNG PATIENTS, IS ASSOCIATED WITH REDUCED GENE EXPRESSION 109
A novel polymorphic AP-1 binding element of the GFAP promoter is associated with different allelic transcriptional activities 105
Molecular genetics of Hirschsprung disease. 104
High prevalence of the Gly101Trp germline mutation in the CDKN2A gene in 62 small Italian families 101
Hirschsprung disease, associated syndromes and genetics: a review 101
null 101
High prevalence of the G101W germline mutation in the CDKN2A (P16INK4A) gene in 62 Italian malignant melanoma families 101
DRD3 Ser9Gly variant is not associated with essential tremor in a series of Italian patients 98
Haplotypes of the human RET proto-oncogene associated with Hirschsprung disease in the Italian population derive from a single ancestral combination of alleles 98
Integration of Linkage Analysis and Next-Generation Sequencing Data 98
Comparative analysis of different approaches for dealing with candidate regions in the context of a genome-wide association study 96
Inclusion of a priori information in genome-wide association analysis 95
Soluble HLA-G serum levels in patients with the Acquired Immunodeficiency Syndrome affected by different AIDS-defining conditions before and after anti-retroviral treatment 94
Pathways systematically associated to Hirschsprung's disease. 91
Effectiveness of psychological support in patients undergoing primary total hip or knee arthroplasty: a controlled cohort study 91
Behavior of non-classical soluble HLA class G antigens in human immunodeficiency virus 1-infected patients before and after HAART: comparison with classical soluble HLA-A, -B, -C antigens and potential role in immune-reconstitution. 91
Absence of melanocortin 1 receptor variants in Ligurian G101W families 90
HLA-G expression in gastric carcinoma: clinicopathological correlations and prognostic impact 89
Molecular mechanisms of RET-induced Hirschsprung pathogenesis 86
Summary of Genetic Analysis Workshop 15: Group 9 linkage analysis of the CEPH expression data 84
Attention-deficit hyperactivity disorder 82
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease 81
A metagenomics study on Hirschsprung's disease associated enterocolitis: Biodiversity and gut microbial homeostasis depend on resection length and patient's clinical history 77
Technological improvements in the treatment of haemorrhoids and obstructed defaecation syndrome 75
Absence of melanocortin 1 receptor variants in Ligurian Gly101trp families 70
Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease 68
A common variant located in the 3'UTR of the RET gene is associated with protection from Hirschsprung disease 63
Prevalence of CDKN2A gene mutations in patients with early-onset sporadic melanoma 62
The osmr gene is involved in hirschsprung associated enterocolitis susceptibility through an altered downstream signaling 58
Prevalenza della mutazione germinale G101W nel gene CDKN2A in pazienti liguri con melanoma sporadico 51
Melanoma Familiare: Il contributo di geni di suscettibilità ad alta e bassa penetranza 44
Flu and pneumococcal vaccine coverage in scleroderma patients still need to be prompted: A systematic review 42
Effect of Aging on Deferasirox Therapy in Transfusion-dependent Patients. A Prospective-Retrospective, Cohort-study 28
Deprescribing Strategies: A Prospective Study on Proton Pump Inhibitors 23
A Survey on Undergraduate Medical Students’ Perception of COVID-19 Vaccination 23
Human Leukocyte Antigen Class II associations in late-onset Myasthenia Gravis 13
Correction: Induction of RET dependent and independent pro-inflammatory programs in human peripheral blood mononuclear cells from hirschsprung patients (PLoS ONE) 10
Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome 8
A pilot study on school of medicine students’ perception of ethical issues related to human specimens in anatomical museums 6
The involvement of the RET variant G691S in medullary thyroid carcinoma enlightened by a meta-analysis study 4
OSM/OSMR and Interleukin 6 Family Cytokines in Physiological and Pathological Condition 3
Totale 6.161
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Categoria #
all - tutte 17.802
article - articoli 15.206
book - libri 0
conference - conferenze 1.908
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 688
Totale 35.604
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.395 0 0 0 0 151 177 231 161 180 276 164 55
2020/2021533 36 72 24 52 31 48 32 57 40 65 37 39
2021/2022729 19 44 81 82 23 40 58 154 36 67 43 82
2022/2023604 58 59 4 49 110 88 2 40 98 10 79 7
2023/2024584 20 36 6 44 30 62 34 247 12 22 21 50
2024/2025331 61 83 33 75 79 0 0 0 0 0 0 0
Totale 6.161