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Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.
Guida V, Sparascio FP, Bernardini L, Pancheri F, Melis D, Cocciadiferro D, Pagnoni M, Puzzo M, Goldoni M, Barone C, Hozhabri H, Putotto C, Giuffrida MG, Briuglia S, Palumbo O, Bianca S, Stanzial F, Benedicenti F, Kariminejad A, Forzano F, Baghernajad Salehi L, Mattina T, Brancati F, Castori M, Carella M, Fadda MT, Iannetti G, Dallapiccola B, Digilio MC, Marino B, Tartaglia M, De Luca A. Guida V, et al. Among authors: castori m. Clin Genet. 2021 Sep;100(3):268-279. doi: 10.1111/cge.13994. Epub 2021 May 24. Clin Genet. 2021. PMID: 33988253
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia.
Brancati F, Valente EM, Castori M, Vanacore N, Sessa M, Galardi G, Berardelli A, Bentivoglio AR, Defazio G, Girlanda P, Abbruzzese G, Albanese A, Dallapiccola B; Italian Movement Disorder Study Group. Brancati F, et al. Among authors: castori m. J Neurol Neurosurg Psychiatry. 2003 May;74(5):665-6. doi: 10.1136/jnnp.74.5.665. J Neurol Neurosurg Psychiatry. 2003. PMID: 12700316 Free PMC article.
Pachydermoperiostosis: an update.
Castori M, Sinibaldi L, Mingarelli R, Lachman RS, Rimoin DL, Dallapiccola B. Castori M, et al. Clin Genet. 2005 Dec;68(6):477-86. doi: 10.1111/j.1399-0004.2005.00533.x. Clin Genet. 2005. PMID: 16283874 Review.
Hypochondrogenesis.
Castori M, Brancati F, Scanderbeg AC, Dallapiccola B. Castori M, et al. Pediatr Radiol. 2006 May;36(5):460-1. doi: 10.1007/s00247-005-0068-z. Epub 2006 Jan 24. Pediatr Radiol. 2006. PMID: 16432703 No abstract available.
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
Valente EM, Brancati F, Silhavy JL, Castori M, Marsh SE, Barrano G, Bertini E, Boltshauser E, Zaki MS, Abdel-Aleem A, Abdel-Salam GM, Bellacchio E, Battini R, Cruse RP, Dobyns WB, Krishnamoorthy KS, Lagier-Tourenne C, Magee A, Pascual-Castroviejo I, Salpietro CD, Sarco D, Dallapiccola B, Gleeson JG; International JSRD Study Group. Valente EM, et al. Among authors: castori m. Ann Neurol. 2006 Mar;59(3):527-34. doi: 10.1002/ana.20749. Ann Neurol. 2006. PMID: 16453322 Free article.
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
Valente EM, Silhavy JL, Brancati F, Barrano G, Krishnaswami SR, Castori M, Lancaster MA, Boltshauser E, Boccone L, Al-Gazali L, Fazzi E, Signorini S, Louie CM, Bellacchio E; International Joubert Syndrome Related Disorders Study Group; Bertini E, Dallapiccola B, Gleeson JG. Valente EM, et al. Among authors: castori m. Nat Genet. 2006 Jun;38(6):623-5. doi: 10.1038/ng1805. Epub 2006 May 7. Nat Genet. 2006. PMID: 16682970
261 results