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Laura Bernardini

Explore the profile of Laura Bernardini including associated specialties, affiliations and a list of published articles. Areas
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Articles 148
Citations 1584
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Recent Articles
1.
Siracusano M, Stellato M, Carloni E, Miccolo G, Riccioni A, Moavero R, et al.
J Med Case Rep . 2025 Mar; 19(1):106. PMID: 40065383
Background: The role of copy number variants as genomic mutations causative of neurodevelopmental disorders has been recently established. They can act as risk factors of conditions with multifactorial etiopathogenesis and...
2.
Grati F, Capalbo A, Gabbiato I, Battaglia P, Pittalis M, Bizzoco D, et al.
J Assist Reprod Genet . 2025 Jan; PMID: 39871067
This document aims to provide good practice recommendations in order to support maternal-foetal medicine specialists, clinical geneticists and clinical laboratory geneticists in the management of pregnancies obtained after the transfer...
3.
Mastromoro G, Guadagnolo D, Gianno F, Khaleghi Hashemian N, Terracciano A, Bernardini L, et al.
Am J Med Genet A . 2025 Jan; e64001. PMID: 39865381
TBCK (TBC1 Domain-Containing Kinase) encodes a protein playing a role in actin organization and cell growth/proliferation via the mTOR signaling pathway. Deleterious biallelic TBCK variants cause Hypotonia, infantile, with psychomotor...
4.
Goldoni M, Torres B, Pettinato M, Gennaro A, Biagini T, Condorelli A, et al.
Pediatr Dermatol . 2024 Oct; PMID: 39443834
Junctional epidermolysis bullosa (JEB) is a rare genodermatosis characterized by fragility of the skin and mucous membranes due to alterations in the dermal epidermal junction. This condition manifests as mechanically...
5.
Moramarco S, De Angelis L, Bernardini L, Marconi L, Piunno G, Siciliano S, et al.
Cancers (Basel) . 2024 Sep; 16(17). PMID: 39272938
Background: Understanding the specific needs of cancer survivors is essential for healthcare policy. In Italy, dedicated studies are lacking, so we aimed to investigate the physical, mental, social, and health...
6.
Giovenale A, Turco E, Mazzoni M, Ferrone I, Torres B, Bernardini L, et al.
Stem Cell Res . 2024 Sep; 81():103544. PMID: 39260069
Smith-Magenis syndrome (SMS) is a complex neurodevelopmental disorder with a birth incidence of 1:25,000. SMS is caused by haploinsufficiency of the retinoic acid-induced retinoic acid1 (RAI1) gene, determined by an...
7.
Salani F, Vetere G, Rossini D, Genovesi V, Carullo M, Bartalini L, et al.
Liver Int . 2024 Jul; 44(10):2763-2772. PMID: 39072988
Background And Aims: The best adjuvant chemotherapy for resected biliary tract cancer (BTC) is under debate, with capecitabine supported by weak evidence. Aim of this network meta-analysis is to estimate...
8.
Camerini A, Mazzoni F, Scotti V, Tibaldi C, Sbrana A, Calabro L, et al.
J Clin Med . 2024 Jul; 13(13). PMID: 38999206
There are currently few data about the safety and effectiveness of chemotherapy for patients with metastatic non-small-cell lung cancer (NSCLC) who have progressed from prior immunotherapy. Data from patients with...
9.
Napoli N, Kauffmann E, Ginesini M, Di Dato A, Viti V, Gianfaldoni C, et al.
Ann Surg Open . 2024 Jun; 5(2):e409. PMID: 38911629
Objective: This study aimed to compare robotic pancreatoduodenectomy with vein resection (PD-VR) based on the incidence of severe postoperative complications (SPC). Background: Robotic pancreatoduodenectomy has been gaining momentum in recent...
10.
Sbrana A, Cappelli S, Petrini I, Bernardini L, Massa V, Carrozzi L, et al.
Future Oncol . 2024 May; 20(24):1745-1751. PMID: 38709118
We retrospectively evaluated the effect of dabrafenib/trametinib combination in patients with BRAF-mutated non-small-cell lung cancer (NSCLC) treated in a single center from 2017 to 2022. The response and safety data...