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Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease.
Tallgren A, Kager L, O'Grady G, Tuominen H, Körkkö J, Kuismin O, Feucht M, Wilson C, Behunova J, England E, Kurki MI, Palotie A, Hallman M, Kaarteenaho R, Laccone F, Boztug K, Hinttala R, Uusimaa J. Tallgren A, et al. Among authors: laccone f. Front Neurosci. 2023 Apr 27;17:1123327. doi: 10.3389/fnins.2023.1123327. eCollection 2023. Front Neurosci. 2023. PMID: 37179546 Free PMC article.
Mycobacterium avium Complex Infections: Detailed Phenotypic and Functional Immunological Work-Up Is Required despite Genetic Analyses.
Kratzer B, Grabmeier-Pfistershammer K, Trapin D, Körmöczi U, Rottal A, Feichter M, Waidhofer-Söllner P, Smogavec M, Laccone F, Hauser M, Winkler S, Pickl WF, Lechner AM. Kratzer B, et al. Among authors: laccone f. Int Arch Allergy Immunol. 2023;184(9):914-931. doi: 10.1159/000530844. Epub 2023 Jun 6. Int Arch Allergy Immunol. 2023. PMID: 37279717 Free article.
Performance of clinical risk scores and prediction models to identify pathogenic germline variants in patients with advanced prostate cancer.
Rebhan K, Stelzer PD, Pradere B, Rajwa P, Kramer G, Hofmann B, Resch I, Yurdakul O, Laccone FA, Bujalkova MG, Smogavec M, Tan YY, Ristl R, Shariat SF, Egger G, Hassler MR. Rebhan K, et al. Among authors: laccone fa. World J Urol. 2023 Aug;41(8):2091-2097. doi: 10.1007/s00345-023-04535-4. Epub 2023 Aug 1. World J Urol. 2023. PMID: 37528288 Free PMC article.
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.
Krenn M, Sener M, Rath J, Zulehner G, Keritam O, Wagner M, Laccone F, Iglseder S, Marte S, Baumgartner M, Eisenkölbl A, Liechtenstein C, Rudnik S, Quasthoff S, Grinzinger S, Spenger J, Wortmann SB, Löscher WN, Zimprich F, Kellersmann A, Rappold M, Bernert G, Freilinger M, Cetin H. Krenn M, et al. Among authors: laccone f. J Neurol. 2023 Feb;270(2):909-916. doi: 10.1007/s00415-022-11440-0. Epub 2022 Oct 29. J Neurol. 2023. PMID: 36308527 Free PMC article.
Aneuploidy detection in pooled polar bodies using rapid nanopore sequencing.
Madritsch S, Arnold V, Haider M, Bosenge J, Pfeifer M, Weil B, Zechmeister M, Hengstschläger M, Neesen J, Laccone F. Madritsch S, et al. Among authors: laccone f. J Assist Reprod Genet. 2024 Apr 20. doi: 10.1007/s10815-024-03108-7. Online ahead of print. J Assist Reprod Genet. 2024. PMID: 38642269
Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case.
Pfeifer M, Rehder H, Gerykova Bujalkova M, Bartsch C, Fritz B, Knopp C, Beckers B, Dohle F, Meyer-Wittkopf M, Axt-Fliedner R, Beribisky AV, Hofer M, Laccone F, Schoner K. Pfeifer M, et al. Among authors: laccone f. Orphanet J Rare Dis. 2024 Mar 12;19(1):114. doi: 10.1186/s13023-024-03106-z. Orphanet J Rare Dis. 2024. PMID: 38475835 Free PMC article.
136 results