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Year Number of Results
2014 1
2016 2
2018 1
2019 1
2020 3
2021 4
2022 6
2023 6
2024 1

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PubMed for id: 863258

18 results

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Page 1
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).
Micalizzi A, Poretti A, Romani M, Ginevrino M, Mazza T, Aiello C, Zanni G, Baumgartner B, Borgatti R, Brockmann K, Camacho A, Cantalupo G, Haeusler M, Hikel C, Klein A, Mandrile G, Mercuri E, Rating D, Romaniello R, Santorelli FM, Schimmel M, Spaccini L, Teber S, von Moers A, Wente S, Ziegler A, Zonta A, Bertini E, Boltshauser E, Valente EM. Micalizzi A, et al. Eur J Hum Genet. 2016 Aug;24(9):1262-7. doi: 10.1038/ejhg.2016.19. Epub 2016 Mar 2. Eur J Hum Genet. 2016. PMID: 26932191 Free PMC article.
Variability of retinopathy consequent upon novel mutations in LAMA1.
Schiff ER, Aychoua N, Nutan S, Davagnanam I, Moore AT, Robson AG, Patel CK, Webster AR, Arno G. Schiff ER, et al. Ophthalmic Genet. 2022 Oct;43(5):671-678. doi: 10.1080/13816810.2022.2076283. Epub 2022 May 26. Ophthalmic Genet. 2022. PMID: 35616092
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing.
D'Abrusco F, Arrigoni F, Serpieri V, Romaniello R, Caputi C, Manti F, Jocic-Jakubi B, Lucarelli E, Panzeri E, Bonaglia MC, Chiapparini L, Pichiecchio A, Pinelli L, Righini A, Leuzzi V, Borgatti R, Valente EM. D'Abrusco F, et al. Cerebellum. 2022 Dec;21(6):1144-1150. doi: 10.1007/s12311-021-01350-8. Epub 2021 Nov 30. Cerebellum. 2022. PMID: 34846692
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.
Aldinger KA, Mosca SJ, Tétreault M, Dempsey JC, Ishak GE, Hartley T, Phelps IG, Lamont RE, O'Day DR, Basel D, Gripp KW, Baker L, Stephan MJ, Bernier FP, Boycott KM, Majewski J; University of Washington Center for Mendelian Genomics; Care4Rare Canada; Parboosingh JS, Innes AM, Doherty D. Aldinger KA, et al. Am J Hum Genet. 2014 Aug 7;95(2):227-34. doi: 10.1016/j.ajhg.2014.07.007. Am J Hum Genet. 2014. PMID: 25105227 Free PMC article.
18 results