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303 results

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Page 1
Three new patients with dup(17)(p11.2p11.2) without autism.
Greco D, Romano C, Reitano S, Barone C, Benedetto DD, Castiglia L, Fichera M, Galesi O, Zingale M, Buono S, Uliana V, Caselli R, Canitano R, Hayek G, Renieri A. Greco D, et al. Among authors: caselli r. Clin Genet. 2008 Mar;73(3):294-6. doi: 10.1111/j.1399-0004.2007.00959.x. Epub 2008 Jan 23. Clin Genet. 2008. PMID: 18218042 No abstract available.
Private inherited microdeletion/microduplications: implications in clinical practice.
Mencarelli MA, Katzaki E, Papa FT, Sampieri K, Caselli R, Uliana V, Pollazzon M, Canitano R, Mostardini R, Grosso S, Longo I, Ariani F, Meloni I, Hayek J, Balestri P, Mari F, Renieri A. Mencarelli MA, et al. Among authors: caselli r. Eur J Med Genet. 2008 Sep-Oct;51(5):409-16. doi: 10.1016/j.ejmg.2008.06.003. Epub 2008 Jul 9. Eur J Med Genet. 2008. PMID: 18657637
Germline mosaicism in Rett syndrome identified by prenatal diagnosis.
Mari F, Caselli R, Russo S, Cogliati F, Ariani F, Longo I, Bruttini M, Meloni I, Pescucci C, Schurfeld K, Toti P, Tassini M, Larizza L, Hayek G, Zappella M, Renieri A. Mari F, et al. Among authors: caselli r. Clin Genet. 2005 Mar;67(3):258-60. doi: 10.1111/j.1399-0004.2005.00397.x. Clin Genet. 2005. PMID: 15691364 Free article.
Expanding the phenotype of 22q11 deletion syndrome: the MURCS association.
Uliana V, Giordano N, Caselli R, Papa FT, Ariani F, Marcocci C, Gianetti E, Martini G, Papakostas P, Rollo F, Meloni I, Mari F, Priolo M, Renieri A, Nuti R. Uliana V, et al. Among authors: caselli r. Clin Dysmorphol. 2008 Jan;17(1):13-17. doi: 10.1097/MCD.0b013e3282ef97ee. Clin Dysmorphol. 2008. PMID: 18049074
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.
2q24-q31 deletion: report of a case and review of the literature.
Pescucci C, Caselli R, Grosso S, Mencarelli MA, Mari F, Farnetani MA, Piccini B, Artuso R, Bruttini M, Priolo M, Zuffardi O, Gimelli S, Balestri P, Renieri A. Pescucci C, et al. Among authors: caselli r. Eur J Med Genet. 2007 Jan-Feb;50(1):21-32. doi: 10.1016/j.ejmg.2006.09.001. Epub 2006 Sep 17. Eur J Med Genet. 2007. PMID: 17088112 Review.
303 results