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Homozygosity for MECP2 gene in a girl with classical Rett syndrome.
Karall D, Haberlandt E, Scholl-Bürgi S, Baumgartner S, Naudó M, Martorell L. Karall D, et al. Among authors: martorell l. Eur J Med Genet. 2007 Nov-Dec;50(6):465-8. doi: 10.1016/j.ejmg.2007.07.001. Epub 2007 Aug 6. Eur J Med Genet. 2007. PMID: 17881312
AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission.
Yrigollen CM, Martorell L, Durbin-Johnson B, Naudo M, Genoves J, Murgia A, Polli R, Zhou L, Barbouth D, Rupchock A, Finucane B, Latham GJ, Hadd A, Berry-Kravis E, Tassone F. Yrigollen CM, et al. Among authors: martorell l. J Neurodev Disord. 2014;6(1):24. doi: 10.1186/1866-1955-6-24. Epub 2014 Jul 30. J Neurodev Disord. 2014. PMID: 25110527 Free PMC article.
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.
Bachmann-Gagescu R, Ishak GE, Dempsey JC, Adkins J, O'Day D, Phelps IG, Gunay-Aygun M, Kline AD, Szczaluba K, Martorell L, Alswaid A, Alrasheed S, Pai S, Izatt L, Ronan A, Parisi MA, Mefford H, Glass I, Doherty D. Bachmann-Gagescu R, et al. Among authors: martorell l. J Med Genet. 2012 Feb;49(2):126-37. doi: 10.1136/jmedgenet-2011-100552. J Med Genet. 2012. PMID: 22241855
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics; Chance P, Parisi MA, Glass IA, Shendure J, Doherty D. Bachmann-Gagescu R, et al. Among authors: martorell l. J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19. J Med Genet. 2015. PMID: 26092869 Free PMC article.
215 results