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Patrizia Lastella

Explore the profile of Patrizia Lastella including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 29
Citations 313
Followers 0
Related Specialties
Genetics
Oncology
General Medicine
Top 10 Co-Authors
Nicoletta Resta
Alessandro Stella
Carlo Sabba
Rosanna Bagnulo
Patrizia Suppressa
Margherita Patruno
Ginevra Guanti
Nenad Bukvic
Gennaro M Lenato
Carmela Di Gregorio
Published In
Genes (Basel)
Hum Mutat
Case Rep Endocrinol
Vasa
J Med Genet
Affiliations
Soon will be listed here.
Recent Articles
1.
The Biallelic Inheritance of Two Novel Variants Results in Developmental and Epileptic Encephalopathy Responsive to Levetiracetam
Dinoi G, Conte E, Palumbo O, Benvenuto M, Coppola M, Palumbo P, et al.
Biomedicines . 2024 Aug; 12(8). PMID: 39200163
Loss-, gain-of-function and mixed variants in (Nav1.1 voltage-gated sodium channel) have been associated with a spectrum of neurologic disorders with different severity and drug-responsiveness. Most variants are heterozygous changes occurring...
2.
A novel mutation in the LRSAM1 gene in a family with early onset autosomal dominant Charcot-Marie-Tooth type 2P
Milella G, Amati A, Lastella P, Zanfardino P, Petruzzella V, Zoccolella S
Clin Neurol Neurosurg . 2024 Feb; 237:108158. PMID: 38330802
Charcot-Marie-Tooth disease type 2P (CMT2P; MIM #614436) is a specific type of axonal neuropathy caused by mutations in the LRSAM1 gene, which is a RING-type E3 ubiquitin ligase. CMT2P can...
3.
Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer
Turchiano A, Piglionica M, Martino S, Bagnulo R, Garganese A, De Luisi A, et al.
Genes (Basel) . 2023 Aug; 14(8). PMID: 37628581
Breast cancer (BC) is the most common cancer and the leading cause of cancer death in women worldwide. Since the discovery of the highly penetrant susceptibility genes and , many...
4.
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
Leone M, Morlino S, Nardella G, Pracella R, Giachino D, Celli L, et al.
Hum Genet . 2023 Apr; 142(6):785-808. PMID: 37079061
Deleterious variants in collagen genes are the most common cause of hereditary connective tissue disorders (HCTD). Adaptations of the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP)...
5.
Case report: associated cortical malformations: Case report of a novel stop-gain variant and literature review
Falcicchio G, Riva A, La Neve A, Iacomino M, Lastella P, Suppressa P, et al.
Front Genet . 2023 Jan; 13:990350. PMID: 36685914
Malformations of cortical development (MCDs) can lead to peculiar neuroradiological patterns and clinical presentations (i.e., seizures, cerebral palsy, and intellectual disability) according to the specific genetic pathway of the brain...
6.
Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 gene
Stella A, Lastella P, Viggiano L, Bagnulo R, Resta N
Hum Mutat . 2022 Jun; 43(10):1354-1360. PMID: 35723633
Neurofibromatosis type 1 (NF1) belongs to RASopathies, a group of syndromes caused by germline mutations in Ras/MAPK pathway genes. Most NF1 patients exhibit single inactivating pathogenic variants within the NF1...
7.
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
Mussa A, Leoni C, Iacoviello M, Carli D, Ranieri C, Pantaleo A, et al.
J Med Genet . 2022 Mar; 60(2):163-173. PMID: 35256403
Background: Postzygotic activating variants cause several phenotypes within the -related overgrowth spectrum (PROS). Variant strength, mosaicism level, specific tissue involvement and overlapping disorders are responsible for disease heterogeneity. We explored...
8.
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
Laforgia N, De Cosmo L, Palumbo O, Ranieri C, Sesta M, Capodiferro D, et al.
Genes (Basel) . 2020 Dec; 11(12). PMID: 33353066
Congenital myasthenic syndromes (CMSs) are caused by mutations in genes that encode proteins involved in the organization, maintenance, function, or modification of the neuromuscular junction. Among these, the collagenic tail...
9.
Neurofibromatosis type 1 and melanoma of the iris arising from a dysplastic nevus: A rare yet casual association?
Alessio G, Guerriero S, Albano V, Piscitelli D, Falcone V, Lastella P, et al.
Eur J Ophthalmol . 2020 Feb; 31(3):NP45-NP49. PMID: 32064917
Purpose: We investigated the molecular causes of an unusual pigmented and ulcerated iris lesion detected in a patient diagnosed with neurofibromatosis type 1 (NF1). Case Report: A 52-year-old man was...
10.
Accurate Classification of Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1
Stella A, Lastella P, Loconte D, Bukvic N, Varvara D, Patruno M, et al.
Genes (Basel) . 2018 Apr; 9(4). PMID: 29673180
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic diseases. It is caused by mutations in the gene encoding for the large protein, neurofibromin. Genetic testing...