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Nicoletta Lelli

Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing.
1996 · R Garuti, N Lelli, et al. · Journal of Lipid Research · 47
Partial deletion of the gene encoding sterol 27-hydroxylase in a subject with cerebrotendinous xanthomatosis
1996 · R Garuti, N Lelli, et al. · Journal of Lipid Research · 29
Characterization of three mutations of the low density lipoprotein receptor gene in Italian patients with familial hypercholesterolemia.
1991 · N Lelli, M Ghisellini, et al. · Arteriosclerosis and Thrombosis A Journal of Vascular Biology · 28
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A large deletion in the LDL receptor gene--the cause of familial hypercholesterolemia in three Italian families: a study that dates back to the 17th century (FH-Pavia).
1992 · S Bertolini, N Lelli, et al. · Europe PMC (PubMed Central) · 26
Role of cerebrospinal fluid biomarkers to predict conversion to dementia in patients with mild cognitive impairment: a clinical cohort study
2014 · Manuela Tondelli, Roberta Bedin, et al. · Clinical Chemistry and Laboratory Medicine (CCLM) · 21
Occurrence of multiple aberrantly spliced mRNAs of the LDL-receptor gene upon a donor splice site mutation that causes familial hypercholesterolemia (FHBenevento).
1995 · N Lelli, R Garuti, et al. · Journal of Lipid Research · 21
Duplication of exons 13, 14 and 15 of the LDL-receptor gene in a patient with heterozygous familial hypercholesterolemia
1991 · N. Lelli, M. Ghisellini, et al. · Human Genetics · 21
Platelet Function Testing in Patients with Acute Ischemic Stroke: An Observational Study
2017 · Francesca Rosafio, Nicoletta Lelli, et al. · Journal of Stroke and Cerebrovascular Diseases · 17
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Analysis of two duplications of the LDL receptor gene affectingintracellular transport, catabolism, and surface binding of the LDLreceptor
1998 · Dilip.D. Patel, Nicoletta Lelli, et al. · Journal of Lipid Research · 12
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Partial duplication of the EGF precursor homology domain of the LDL-receptor protein causing familial hypercholesterolemia (FH-Salerno).
1994 · S Bertolini, D D Patel, et al. · Journal of Lipid Research · 12
Two novel partial deletions of LDL-receptor gene in Italian patients with familial hypercholesterolemia (FHSiracusa and FHReggio Emilia)
1996 · R. Garuti, N. Lelli, et al. · Atherosclerosis · 9
Alternative splicing of mutant LDL-receptor mRNA in an Italian patient with familial hypercholesterolemia due to a partial deletion of LDL-receptor gene (FHPotenza)
1993 · N Lelli, R Garuti, et al. · Journal of Lipid Research · 9
Platelet Function Monitoring Performed after Carotid Stenting during Endovascular Stroke Treatment Predicts Outcome
2021 · Ludovico Ciolli, Nicoletta Lelli, et al. · Journal of Stroke and Cerebrovascular Diseases · 7
A new missense mutation (Cys297?Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FHTrieste)
1994 · N. Lelli, R. Garuti, et al. · Human Genetics · 5
Proposal of a “gradient model” to evaluate residual platelet activity on antiplatelet therapy: A pilot study
2016 · Nicoletta Lelli, Rima Rizkallah, et al. · Thrombosis Research · 2
Why Me? To Be an Ultra-Responder to Antiplatelet Therapy: A Case Report
2021 · Francesca Rosafio, Guido Bigliardi, et al. · Frontiers in Neurology · 1
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Monocyte Distribution Width (MDW) as a new parameter useful in COVID-19 patients in emergency setting
2020 · Manuela Varani, L. Kodzhebash, et al. · Biochimica Clinica · 1
When Standard Tests Fall Short: Solving a Complex Case of Inherited Bone Marrow Failure Syndrome Through Whole-exome Sequencing
2025 · Nicole Lelli, Carmelo Gurnari, et al. · EJC Paediatric Oncology
C-CBL mutations affecting residue 371 confer dismal prognosis in MDS and CMML
2025 · Luca Guarnera, Carmelo Gurnari, et al. · Blood
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COVID-19 Spreading Across World Correlates with 677T Allele of the Methylenetetrahydrofolate Reductase (MTHFR) Gene Prevalence
2021 · Giovanni Ponti, Lorenza Pastorino, et al. · Journal of Molecular Biomarkers & Diagnosis
The prevalence of antibodies to SARS-CoV-2 in healthcare workers of Modena. the screening on more than 7000 subjects
2020 · V.L. Pecoraro, Chiara Carone, et al. · Biochimica Clinica
Attività piastrinica residua in pazienti in terapia con inibitori dei recettori P2Y12 e/o acido acetilsalicilico: 30 mesi di esperienza con il Multiplate®
2014 · Patrizia Ferrari, Rima Rizkallah, et al. · La Rivista Italiana della Medicina di Laboratorio - Italian Journal of Laboratory Medicine
Occurrence of multiple aberrantly spliced mRNAs of LDL-receptor in some mutations of LDL-receptor gene causing familial hypercholesterolemia
1995 · N. Lelli, R. Garuti, et al. · Atherosclerosis
Alternative splicing of LDL-receptor mRNA in a patient with familial hypercholesterolemia due to a duplication of exons 16 and 17
1992 · S. Calandra, N. Lelli, et al. · Atherosclerosis
Works count: 24
Citation count: 268
H-index: 10
I10-index: 10
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