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261 results

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Page 1
Distinguishing the four genetic causes of Jouberts syndrome-related disorders.
Valente EM, Marsh SE, Castori M, Dixon-Salazar T, Bertini E, Al-Gazali L, Messer J, Barbot C, Woods CG, Boltshauser E, Al-Tawari AA, Salpietro CD, Kayserili H, Sztriha L, Gribaa M, Koenig M, Dallapiccola B, Gleeson JG. Valente EM, et al. Among authors: castori m. Ann Neurol. 2005 Apr;57(4):513-9. doi: 10.1002/ana.20422. Ann Neurol. 2005. PMID: 15786477 Free article.
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.
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13.
Brancati F, Valente EM, Sarkozy A, Fehèr J, Castori M, Del Duca P, Mingarelli R, Pizzuti A, Dallapiccola B. Brancati F, et al. Among authors: castori m. J Med Genet. 2004 Mar;41(3):188-92. doi: 10.1136/jmg.2003.012872. J Med Genet. 2004. PMID: 14985379 Free PMC article. No abstract available.
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.
Castori M, Valente EM, Donati MA, Salvi S, Fazzi E, Procopio E, Galluccio T, Emma F, Dallapiccola B, Bertini E; Italian MTS Study Group. Castori M, et al. J Med Genet. 2005 Feb;42(2):e9. doi: 10.1136/jmg.2004.027375. J Med Genet. 2005. PMID: 15689444 Free PMC article. No abstract available.
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