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L. Della Puppa · SciRah

Researcher profile · Semantic Scholar

L. Della Puppa

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L. Della Puppa — researcher profile on SciRah

h-index: 11
Works: 23
Citations: 515

Most-cited papers

Association between hsa-mir-146a genotype and tumor age-of-onset in BRCA1/BRCA2-negative familial breast and ovarian cancer patients.
C. Pastrello, J. Polesel, L. Della Puppa, A. Viel +1 more
2010Carcinogenesis105 citations
Semantic Scholar
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
P. Peterlongo, Irene Catucci, M. Colombo, Laura Caleca +92 more
2015Human Molecular Genetics92 citations Open access
Semantic Scholar
Prevalence of BRCA1 genomic rearrangements in a large cohort of Italian breast and breast/ovarian cancer families without detectable BRCA1 and BRCA2 point mutations
S. Agata, A. Viel, L. Della Puppa, L. Cortesi +9 more
2006Genes, Chromosomes and Cancer57 citations Open access
Semantic Scholar
BRCA1 and BRCA2 genes: Role in hereditary breast and ovarian cancer in Italy
M. Santarosa, R. Dolcetti, M. D. Magri, D. Crivellari +7 more
1999International Journal of Cancer56 citations
Semantic Scholar
Different molecular mechanisms underlie genomic deletions in the MLH1 Gene
A. Viel, F. Petronzelli, L. Della Puppa, E. Lucci-Cordisco +7 more
2002Human Mutation41 citations Open access
Semantic Scholar
Integrated analysis of unclassified variants in mismatch repair genes
C. Pastrello, E. Pin, F. Marroni, C. Bedin +8 more
2011Genetics in Medicine40 citations Open access
Semantic Scholar
Different Expressivity of BRCA1 and BRCA2: Analysis of 179 Italian Pedigrees with Identified Mutation
P. Aretini, E. D'Andrea, B. Pasini, A. Viel +33 more
2003Breast Cancer Research and Treatment25 citations Open access
Semantic Scholar
Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness
Vivek Patel, Evan L. Busch, T. Friebel, A. Cronin +259 more
2019Cancer Research21 citations Open access
Semantic Scholar
Performance of BOADICEA and BRCAPRO genetic models and of empirical criteria based on cancer family history for predicting BRCA mutation carrier probabilities: a retrospective study in a sample of Italian cancer genetics clinics.
L. Varesco, V. Viassolo, A. Viel, V. Gismondi +18 more
2013Breast20 citations Open access
Semantic Scholar
Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy
Giulia Cini, M. Mezzavilla, L. Della Puppa, E. Cupelli +10 more
2016BMC Medical Genetics17 citations Open access
Semantic Scholar
Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy
G. Miolo, L. Della Puppa, M. Santarosa, C. de Giacomi +5 more
2006BMC Cancer17 citations Open access
Semantic Scholar
Amsterdam criteria II and endometrial cancer index cases for an accurate selection of HNPCC families.
M. Fornasarig, A. Viel, E. Bidoli, E. Campagnutta +4 more
2000Tumori10 citations
Semantic Scholar
Selecting for BRCA1 testing using a combination of homogeneous selection criteria and immunohistochemical characteristics of breast cancers
G. Miolo, V. Canzonieri, C. de Giacomi, L. Della Puppa +6 more
2009BMC Cancer4 citations Open access
Semantic Scholar
Null Mismatch Repair Proteins Expression Reveals the Temporal Molecular Events in Lynch Syndrome-Related Cancers
G. Miolo, Wally Marus, A. Buonadonna, L. Da Ros +2 more
2024Diagnostics3 citations Open access
Semantic Scholar
Delayed Bone Age in a Child with a Novel Loss-of-Function Variant in SETBP1 Gene Sheds Light on the Potential Role of SETBP1 Protein in Skeletal Development
G. Miolo, Davide Colavito, L. Della Puppa, Giuseppe Corona
2023Molecular Syndromology2 citations Open access
Semantic Scholar
Advances in Understanding the Molecular Dynamics of Autosomal Dominant Auditory Neuropathy: Unveiling a Novel DIAPH3 Gene Variant Associated With Sensorineural Hearing Loss and Bilateral Vestibular Aqueduct Enlargement
G. Miolo, F. Margiotta, Alessandra Murgia, L. Della Puppa +1 more
2025Journal of Audiology & Otology1 citations Open access
Semantic Scholar
Aortic Tissue Proteome Alterations in Vascular Ehlers-Danlos Syndrome.
G. Miolo, Giovanni Canil, Piernicola Machin, L. Della Puppa +1 more
2025Journal of Proteome Research1 citations
Semantic Scholar
Identification and Structural Characterization of a Novel COL3A1 Gene Duplication in a Family With Vascular Ehlers–Danlos Syndrome
G. Miolo, Piernicola Machin, Marco De Conto, Sara Fortuna +4 more
2025Molecular Genetics & Genomic Medicine1 citations Open access
Semantic Scholar
Trabectedin may be a valuable treatment option for elderly patients with metastatic soft tissue sarcomas
G. Miolo, A. Buonadonna, D. Lombardi, S. Scalone +3 more
2024Frontiers in Oncology1 citations Open access
Semantic Scholar
Metabolic Clues to Bile Acid Patterns and Prolonged Survival in Patients with Metastatic Soft-Tissue Sarcoma Treated with Trabectedin
G. Miolo, A. Buonadonna, S. Scalone, D. Lombardi +3 more
2023Metabolites1 citations Open access
Semantic Scholar
Author ' s response to reviews Title : Selecting for BRCA 1 testing using a combination of homogeneous selection criteria and immunohistochemical characteristics of breast cancers
C. de Giacomi, L. Della Puppa, S. Scalone, A. Veronesi +1 more
20090 citations
Semantic Scholar
Impact of deleterious BRCA mutations and unclassified BRCA variants upon breast cancer characteristics at presentation
G. Miolo, N. La Mura, D. Lombardi, S. Scalone +6 more
20070 citations
Semantic Scholar
Abstracts presented at the Breast Cancer Linkage Consortium (BCLC) and the International Collaborative Group on Familial Breast and Ovarian Cancer (ICG-FBOC) 14th General Meeting at the Centro Nacional de Investigaciones Oncológica (CNIO), Madrid, Spain, 2–4 June 2003 Abstracts/posters
G. Aceto, S. Agata, Paolo, Aretini +39 more
2004Familial Cancer0 citations
Semantic Scholar

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