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Page 1
Familial Ohtahara syndrome due to a novel ARX gene mutation.
Giordano L, Sartori S, Russo S, Accorsi P, Galli J, Tiberti A, Bettella E, Marchi M, Vignoli A, Darra F, Murgia A, Bernardina BD. Giordano L, et al. Among authors: marchi m. Am J Med Genet A. 2010 Dec;152A(12):3133-7. doi: 10.1002/ajmg.a.33701. Am J Med Genet A. 2010. PMID: 21108397 Free article.
Genetic investigations on 8 patients affected by ring 20 chromosome syndrome.
Giardino D, Vignoli A, Ballarati L, Recalcati MP, Russo S, Camporeale N, Marchi M, Finelli P, Accorsi P, Giordano L, La Briola F, Chiesa V, Canevini MP, Larizza L. Giardino D, et al. Among authors: marchi m. BMC Med Genet. 2010 Oct 12;11:146. doi: 10.1186/1471-2350-11-146. BMC Med Genet. 2010. PMID: 20939888 Free PMC article.
A CDKL5 mutated child with precocious puberty.
Saletti V, Canafoglia L, Cambiaso P, Russo S, Marchi M, Riva D. Saletti V, et al. Among authors: marchi m. Am J Med Genet A. 2009 May;149A(5):1046-51. doi: 10.1002/ajmg.a.32806. Am J Med Genet A. 2009. PMID: 19396824
Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes.
Russo S, Marchi M, Cogliati F, Bonati MT, Pintaudi M, Veneselli E, Saletti V, Balestrini M, Ben-Zeev B, Larizza L. Russo S, et al. Among authors: marchi m. Neurogenetics. 2009 Jul;10(3):241-50. doi: 10.1007/s10048-009-0177-1. Epub 2009 Feb 25. Neurogenetics. 2009. PMID: 19241098 Free article.
Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes.
Cogliati F, Giorgini V, Masciadri M, Bonati MT, Marchi M, Cracco I, Gentilini D, Peron A, Savini MN, Spaccini L, Scelsa B, Maitz S, Veneselli E, Prato G, Pintaudi M, Moroni I, Vignoli A, Larizza L, Russo S. Cogliati F, et al. Among authors: marchi m. Int J Mol Sci. 2019 Jul 24;20(15):3621. doi: 10.3390/ijms20153621. Int J Mol Sci. 2019. PMID: 31344879 Free PMC article.
Peripheral Ion Channel Gene Screening in Painful- and Painless-Diabetic Neuropathy.
Ślęczkowska M, Almomani R, Marchi M, de Greef BTA, Sopacua M, Hoeijmakers JGJ, Lindsey P, Salvi E, Bönhof GJ, Ziegler D, Malik RA, Waxman SG, Lauria G, Faber CG, Smeets HJM, Gerrits MM. Ślęczkowska M, et al. Among authors: marchi m. Int J Mol Sci. 2022 Jun 28;23(13):7190. doi: 10.3390/ijms23137190. Int J Mol Sci. 2022. PMID: 35806193 Free PMC article.
Laser capture microdissection for transcriptomic profiles in human skin biopsies.
Santoro S, Lopez ID, Lombardi R, Zauli A, Osiceanu AM, Sorosina M, Clarelli F, Peroni S, Cazzato D, Marchi M, Quattrini A, Comi G, Calogero RA, Lauria G, Martinelli Boneschi F. Santoro S, et al. Among authors: marchi m. BMC Mol Biol. 2018 Jun 19;19(1):7. doi: 10.1186/s12867-018-0108-5. BMC Mol Biol. 2018. PMID: 29921228 Free PMC article.
Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing.
Almomani R, Marchi M, Sopacua M, Lindsey P, Salvi E, Koning B, Santoro S, Magri S, Smeets HJM, Martinelli Boneschi F, Malik RR, Ziegler D, Hoeijmakers JGJ, Bönhof G, Dib-Hajj S, Waxman SG, Merkies ISJ, Lauria G, Faber CG, Gerrits MM; on behalf on the PROPANE Study Group. Almomani R, et al. Among authors: marchi m. PLoS One. 2020 Sep 2;15(9):e0238467. doi: 10.1371/journal.pone.0238467. eCollection 2020. PLoS One. 2020. PMID: 32877464 Free PMC article.
852 results