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Novel Germline PHD2 Variant in a Metastatic Pheochromocytoma and Chronic Myeloid Leukemia, but in the Absence of Polycythemia.
Provenzano A, Chetta M, De Filpo G, Cantini G, La Barbera A, Nesi G, Santi R, Martinelli S, Rapizzi E, Luconi M, Maggi M, Mannelli M, Ercolino T, Canu L. Provenzano A, et al. Among authors: la barbera a. Medicina (Kaunas). 2022 Aug 17;58(8):1113. doi: 10.3390/medicina58081113. Medicina (Kaunas). 2022. PMID: 36013579 Free PMC article.
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.
Provenzano A, La Barbera A, Scagnet M, Pagliazzi A, Traficante G, Pantaleo M, Tiberi L, Vergani D, Kurtas NE, Guarducci S, Bargiacchi S, Forzano G, Artuso R, Palazzo V, Kura A, Giordano F, di Feo D, Mortilla M, De Filippi C, Mattei G, Garavelli L, Giusti B, Genitori L, Zuffardi O, Giglio S. Provenzano A, et al. Among authors: la barbera a. Hum Genet. 2021 Apr;140(4):625-647. doi: 10.1007/s00439-020-02231-6. Epub 2020 Dec 18. Hum Genet. 2021. PMID: 33337535 Free PMC article.
Novel Sources of Biodiversity and Biomolecules from Bacteria Isolated from a High Middle Ages Soil Sample in Palermo (Sicily, Italy).
Vassallo A, Modi A, Quagliariello A, Bacci G, Faddetta T, Gallo M, Provenzano A, La Barbera A, Lombardo G, Maggini V, Firenzuoli F, Zaccaroni M, Gallo G, Caramelli D, Aleo Nero C, Baldi F, Fani R, Palumbo Piccionello A, Pucciarelli S, Puglia AM, Sineo L. Vassallo A, et al. Among authors: la barbera a. Microbiol Spectr. 2023 Jun 15;11(3):e0437422. doi: 10.1128/spectrum.04374-22. Epub 2023 Apr 18. Microbiol Spectr. 2023. PMID: 37071008 Free PMC article.
Immunological Features of Neuroblastoma Amplified Sequence Deficiency: Report of the First Case Identified Through Newborn Screening for Primary Immunodeficiency and Review of the Literature.
Ricci S, Lodi L, Serranti D, Moroni M, Belli G, Mancano G, La Barbera A, Forzano G, Mangone G, Indolfi G, Azzari C. Ricci S, et al. Among authors: la barbera a. Front Immunol. 2019 Aug 27;10:1955. doi: 10.3389/fimmu.2019.01955. eCollection 2019. Front Immunol. 2019. PMID: 31507590 Free PMC article. Review.
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement.
Geroldi A, Ponti C, Mammi A, Patrone S, Gotta F, Trevisan L, Sanguineri F, Origone P, Gaudio A, La Barbera A, Cataldi M, Gemelli C, Massucco S, Schenone A, Lanteri P, Fiorillo C, Grandis M, Mandich P, Bellone E. Geroldi A, et al. Among authors: la barbera a. Pediatr Neurol. 2024 May;154:4-8. doi: 10.1016/j.pediatrneurol.2024.02.002. Epub 2024 Feb 10. Pediatr Neurol. 2024. PMID: 38428336
Diagnostic evaluation of sexual dysfunction in the male partner in the setting of infertility: a committee opinion.
Practice Committee of the American Society for Reproductive Medicine in Collaboration With the Society for Male Reproduction and Urology. Electronic address: asrm@asrm.org; Practice Committee of the American Society for Reproductive Medicine in Collaboration With the Society for Male Reproduction and Urology. Practice Committee of the American Society for Reproductive Medicine in Collaboration With the Society for Male Reproduction and Urology. Electronic address: asrm@asrm.org, et al. Fertil Steril. 2018 Oct;110(5):833-837. doi: 10.1016/j.fertnstert.2018.07.010. Fertil Steril. 2018. PMID: 30316420 Free article. Review.
119 results