Get started
Author

Patrizia Lastella

Observed names: LASTELLA P, LASTELLA P., Lastella P, Lastella P., Lastella Patrizia, Lastella, Patrizia, P Lastella, P. LASTELLA, P. Lastella
OpenAlex ID: A5103804144
Cancer risk associated with STK11/LKB1 germline mutations in Peutz–Jeghers syndrome patients: Results of an Italian multicenter study
2013 · Nicoletta Resta, Daniela Pierannunzio, et al. · Digestive and Liver Disease · 157
A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study
2012 · Paola Pierucci, Gennaro M Lenato, et al. · Orphanet Journal of Rare Diseases · 116
PDF
Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors
2015 · Daria C. Loconte, Valentina Grossi, et al. · PLoS ONE · 82
PDF
In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects
2006 · Patrizia Lastella, Nicoletta Concetta Surdo, et al. · BMC Genomics · 63
PDF
Hereditary Hemorrhagic Telangiectasia: Arteriovenous Malformations in Children
2013 · Paola Giordano, Gennaro M. Lenato, et al. · The Journal of Pediatrics · 61
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants
2022 · Alessandro Mussa, Chiara Leoni, et al. · Journal of Medical Genetics · 46
PDF
DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population
2006 · Gennaro M. Lenato, Patrizia Lastella, et al. · Human Mutation · 37
PDF
Anticipation in Lynch Syndrome: Where We Are Where We Go
2011 · Cristina Bozzao, Patrizia Lastella, et al. · Current Genomics · 32
PDF
Tumor-specific hyperactive low-molecular-weight cyclin E isoform detection and characterization in non-metastatic colorectal tumors
2006 · Irina Corin, Marilena C. Di Giacomo, et al. · Cancer Biology & Therapy · 29
PDF
Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1
2018 · Alessandro Stella, Patrizia Lastella, et al. · Genes · 27
PDF
Papillary Thyroid Carcinoma in Peutz-Jeghers Syndrome
2011 · Vincenzo Triggiani, Edoardo Guastamacchia, et al. · Thyroid · 23
Analysis of telomere dynamics in peripheral blood cells from patients with Lynch syndrome
2011 · Cristina Bozzao, Patrizia Lastella, et al. · Cancer · 15
PDF
Identification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutation
2011 · Patrizia Lastella, Margherita Patruno, et al. · Familial Cancer · 13
The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein
2020 · Nicola Laforgia, Lucrezia De Cosmo, et al. · Genes · 12
PDF
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
2023 · Maria Pia Leone, Silvia Morlino, et al. · Human Genetics · 10
Influence of Some Detoxification Enzyme Polymorphisms on Cytogenetic Biomarkers Between Individuals Exposed to Very Low Doses of 1,3-Butadiene
2009 · Nenad Bukvic, Piero Lovreglio, et al. · Journal of Occupational and Environmental Medicine · 9
Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 gene
2022 · Alessandro Stella, Patrizia Lastella, et al. · Human Mutation · 8
PDF
The Biallelic Inheritance of Two Novel SCN1A Variants Results in Developmental and Epileptic Encephalopathy Responsive to Levetiracetam
2024 · Giorgia Dinoi, Elena Conte, et al. · Biomedicines · 7
PDF
Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer
2023 · Antonella Turchiano, Marilidia Piglionica, et al. · Genes · 7
PDF
Pulmonary Arteriovenous Malformations and Cerebral Abscess Recurrence in a Child With Hereditary Hemorrhagic Telangiectasia
2014 · Paola Giordano, Maria Sangerardi, et al. · Journal of Pediatric Hematology/Oncology · 7
A rare MSH2 mutation causes defective binding to hMSH6, normal hMSH2 staining, and loss of hMSH6 at advanced cancer stage
2014 · Daria Carmela Loconte, Margherita Patruno, et al. · Human Pathology · 7
Hepatic angiodynamic profile in paediatric patients with hereditary haemorrhagic telangiectasia type 1 and type 2
2017 · Paola Giordano, Mariantonietta Francavilla, et al. · VASA · 6
Case report: LAMC3-associated cortical malformations: Case report of a novel stop-gain variant and literature review
2023 · Giovanni Falcicchio, Antonella Riva, et al. · Frontiers in Genetics · 5
Neurofibromatosis type 1 and melanoma of the iris arising from a dysplastic nevus: A rare yet casual association?
2020 · Giovanni Alessio, Silvana Guerriero, et al. · European Journal of Ophthalmology · 4
Familial adenomatous polyposis small bowel surveillance: could indicators for video-capsule endoscopy be ascertained?
2016 · Samanta Papagni, Salvatore Rizzi, et al. · PubMed · 2
Works count: 61
Citation count: 789
H-index: 13
I10-index: 15
Year
Topic
Type