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Page 1
Olfactory bulb anomalies in KBG syndrome mouse model and patients.
Goodkey K, Wischmeijer A, Perrin L, Watson AES, Qureshi L, Cordelli DM, Toni F, Gnazzo M, Benedicenti F, Elmaleh-Bergès M, Low KJ, Voronova A. Goodkey K, et al. Among authors: wischmeijer a. BMC Med. 2024 Apr 15;22(1):158. doi: 10.1186/s12916-024-03363-6. BMC Med. 2024. PMID: 38616269 Free PMC article.
Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes.
Ambrosetti I, Bernardini L, Pollazzon M, Giuffrida MG, Guida V, Peluso F, Baroni MC, Polizzi V, Napoli M, Rosato S, Trimarchi G, Gelmini C, Caraffi SG, Wischmeijer A, Frattini D, Novelli A, Garavelli L. Ambrosetti I, et al. Among authors: wischmeijer a. Genes (Basel). 2023 Jul 26;14(8):1526. doi: 10.3390/genes14081526. Genes (Basel). 2023. PMID: 37628577 Free PMC article. Review.
Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.
Mantovani V, Bin S, Graziano C, Capelli I, Minardi R, Aiello V, Ambrosini E, Cristalli CP, Mattiaccio A, Pariali M, De Fanti S, Faletra F, Grosso E, Cantone R, Mancini E, Mencarelli F, Pasini A, Wischmeijer A, Sciascia N, Seri M, La Manna G. Mantovani V, et al. Among authors: wischmeijer a. Front Genet. 2020 May 7;11:464. doi: 10.3389/fgene.2020.00464. eCollection 2020. Front Genet. 2020. PMID: 32457805 Free PMC article.
Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.
Camerota L, Ritelli M, Wischmeijer A, Majore S, Cinquina V, Fortugno P, Monetta R, Gigante L, Marfan Syndrome Study Group Tor Vergata University Hospital, Sangiuolo FC, Novelli G, Colombi M, Brancati F. Camerota L, et al. Among authors: wischmeijer a. Genes (Basel). 2019 Sep 28;10(10):764. doi: 10.3390/genes10100764. Genes (Basel). 2019. PMID: 31569402 Free PMC article. Review.
A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism.
Diquigiovanni C, Bergamini C, Diaz R, Liparulo I, Bianco F, Masin L, Baldassarro VA, Rizzardi N, Tranchina A, Buscherini F, Wischmeijer A, Pippucci T, Scarano E, Cordelli DM, Fato R, Seri M, Paracchini S, Bonora E. Diquigiovanni C, et al. Among authors: wischmeijer a. FASEB J. 2019 Oct;33(10):11284-11302. doi: 10.1096/fj.201802722R. Epub 2019 Aug 7. FASEB J. 2019. PMID: 31314595
Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.
Rainger J, van Beusekom E, Ramsay JK, McKie L, Al-Gazali L, Pallotta R, Saponari A, Branney P, Fisher M, Morrison H, Bicknell L, Gautier P, Perry P, Sokhi K, Sexton D, Bardakjian TM, Schneider AS, Elcioglu N, Ozkinay F, Koenig R, Mégarbané A, Semerci CN, Khan A, Zafar S, Hennekam R, Sousa SB, Ramos L, Garavelli L, Furga AS, Wischmeijer A, Jackson IJ, Gillessen-Kaesbach G, Brunner HG, Wieczorek D, van Bokhoven H, FitzPatrick DR. Rainger J, et al. Among authors: wischmeijer a. PLoS Genet. 2018 Dec 26;14(12):e1007866. doi: 10.1371/journal.pgen.1007866. eCollection 2018 Dec. PLoS Genet. 2018. PMID: 30586382 Free PMC article.
"Spot diagnosis" or "spot the diagnosis"?
Benedicenti F, Stanzial F, Wischmeijer A, Inzana F. Benedicenti F, et al. Among authors: wischmeijer a. J Neurol Sci. 2017 Aug 15;379:335-336. doi: 10.1016/j.jns.2017.05.063. Epub 2017 May 30. J Neurol Sci. 2017. PMID: 28583319 No abstract available.
40 results