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Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.
Catusi I, Recalcati MP, Bestetti I, Garzo M, Valtorta C, Alfonsi M, Alghisi A, Cappellani S, Casalone R, Caselli R, Ceccarini C, Ceglia C, Ciaschini AM, Coviello D, Crosti F, D'Aprile A, Fabretto A, Genesio R, Giagnacovo M, Granata P, Longo I, Malacarne M, Marseglia G, Montaldi A, Nardone AM, Palka C, Pecile V, Pessina C, Postorivo D, Redaelli S, Renieri A, Rigon C, Tiberi F, Tonelli M, Villa N, Zilio A, Zuccarello D, Novelli A, Larizza L, Giardino D. Catusi I, et al. Among authors: caselli r. Mol Genet Genomic Med. 2020 Jan;8(1):e1056. doi: 10.1002/mgg3.1056. Epub 2019 Dec 18. Mol Genet Genomic Med. 2020. PMID: 31851782 Free PMC article.
Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia.
Ballarati L, Cereda A, Caselli R, Maitz S, Russo S, Selicorni A, Larizza L, Giardino D. Ballarati L, et al. Among authors: caselli r. Eur J Med Genet. 2012 Feb;55(2):124-7. doi: 10.1016/j.ejmg.2011.12.001. Epub 2011 Dec 17. Eur J Med Genet. 2012. PMID: 22210230 Free article.
[Clinical and genetic features of the Alport 'syndromes'].
Pescucci C, Longo I, Mari F, Scala E, Bruttini M, Caselli R, Renieri A. Pescucci C, et al. Among authors: caselli r. G Ital Nefrol. 2005 Sep-Oct;22(5):466-76. G Ital Nefrol. 2005. PMID: 16267804 Review. Italian.
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms.
Scala E, Ariani F, Mari F, Caselli R, Pescucci C, Longo I, Meloni I, Giachino D, Bruttini M, Hayek G, Zappella M, Renieri A. Scala E, et al. Among authors: caselli r. J Med Genet. 2005 Feb;42(2):103-7. doi: 10.1136/jmg.2004.026237. J Med Genet. 2005. PMID: 15689447 Free PMC article.
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.
Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, Scala E, Longo I, Grosso S, Pescucci C, Ariani F, Hayek G, Balestri P, Bergo A, Badaracco G, Zappella M, Broccoli V, Renieri A, Kilstrup-Nielsen C, Landsberger N. Mari F, et al. Among authors: caselli r. Hum Mol Genet. 2005 Jul 15;14(14):1935-46. doi: 10.1093/hmg/ddi198. Epub 2005 May 25. Hum Mol Genet. 2005. PMID: 15917271
299 results