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Spectrum of FAR1 (Fatty Acyl-CoA Reductase 1) Variants and Related Neurological Conditions.
Westenberger A, Ruiz-Herrera A, Bozdoğan S, Bisgin A, Almuqbil M, Alhashem A, Alanzi T, Romito A, Rolfs A, Dias P, Gouveia Silva R, Bertoli-Avella AM, Bauer P, Beetz C. Westenberger A, et al. Among authors: romito a. Mov Disord. 2023 Mar;38(3):502-504. doi: 10.1002/mds.29323. Epub 2023 Feb 13. Mov Disord. 2023. PMID: 36781603 No abstract available.
Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.
Alabdulrazzaq F, Alanzi T, Al-Balool HH, Gardham A, Wakeling E, Leitch HG, AlSayed M, Abdulrahim M, Aladwani A, Romito A, Kampe K, Ferdinandusse S, Aboelanine AH, Abdullah A, Alwadani A, Bastaki L, Vaz FM, Bertoli-Avella AM, Marafi D. Alabdulrazzaq F, et al. Among authors: romito a. Mol Genet Genomic Med. 2023 Dec;11(12):e2256. doi: 10.1002/mgg3.2256. Epub 2023 Aug 18. Mol Genet Genomic Med. 2023. PMID: 37592902 Free PMC article.
Relationship between clinical manifestations and serological profile in patients affected by Systemic Lupus Erythematosus.
Nicola S, Borrelli R, Corradi F, Lo Sardo L, Badiu I, Romito A, Rashidy N, Quinternetto A, Mazzola M, Meli F, Saracco E, Vitali I, Cosseddu D, Brussino L. Nicola S, et al. Among authors: romito a. Front Immunol. 2024 Aug 16;15:1390642. doi: 10.3389/fimmu.2024.1390642. eCollection 2024. Front Immunol. 2024. PMID: 39221240 Free PMC article.
Topological transitions of the generalized Pancharatnam-Berry phase.
Ferrer-Garcia MF, Snizhko K, D'Errico A, Romito A, Gefen Y, Karimi E. Ferrer-Garcia MF, et al. Among authors: romito a. Sci Adv. 2023 Nov 24;9(47):eadg6810. doi: 10.1126/sciadv.adg6810. Epub 2023 Nov 24. Sci Adv. 2023. PMID: 38000023 Free PMC article.
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
Faqeih EA, Alghamdi MA, Almahroos MA, Alharby E, Almuntashri M, Alshangiti AM, Clément P, Calame DG, Qebibo L, Burglen L, Doco-Fenzy M, Mastrangelo M, Torella A, Manti F, Nigro V, Alban Z, Alharbi GS, Hashmi JA, Alraddadi R, Alamri R, Mitani T, Magalie B, Coban-Akdemir Z, Geckinli BB, Pehlivan D, Romito A, Karageorgou V, Martini J, Colin E, Bonneau D, Bertoli-Avella A, Lupski JR, Pastore A, Peake RWA, Dallol A, Alfadhel M, Almontashiri NAM. Faqeih EA, et al. Among authors: romito a. Genet Med. 2023 Feb;25(2):100323. doi: 10.1016/j.gim.2022.10.006. Epub 2022 Nov 19. Genet Med. 2023. PMID: 36401616 Free article.
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein.
Kraatari-Tiri M, Soikkonen L, Myllykoski M, Jamshidi Y, Karimiani EG, Komulainen-Ebrahim J, Kallankari H, Mignot C, Depienne C, Keren B, Nougues MC, Alsahlawi Z, Romito A, Martini J, Toosi MB, Carroll CJ, Tripolszki K, Bauer P, Uusimaa J, Bertoli-Avella AM, Koivunen P, Rahikkala E. Kraatari-Tiri M, et al. Among authors: romito a. Clin Genet. 2022 Nov;102(5):444-450. doi: 10.1111/cge.14203. Epub 2022 Aug 19. Clin Genet. 2022. PMID: 35908151 Free PMC article. Review.
Infiltrating T lymphocytes and programmed cell death protein-1/programmed death-ligand 1 expression in endometriosis-associated ovarian cancer.
Nero C, Romito I, Spadola S, Romito A, Turco LC, Cosentino F, De Ninno M, Catena U, De Cicco Nardone A, Moroni R, Zannoni G, Fagotti A, Scambia G. Nero C, et al. Among authors: romito a. Fertil Steril. 2022 Jan;117(1):160-168. doi: 10.1016/j.fertnstert.2021.08.032. Epub 2021 Oct 14. Fertil Steril. 2022. PMID: 34656305 Free article.
87 results