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Page 1
Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit.
Ariani F, Mari F, Amitrano S, Di Marco C, Artuso R, Scala E, Meloni I, Della Volpe R, Rossi A, van Bokhoven H, Renieri A. Ariani F, et al. Among authors: artuso r. Clin Genet. 2013 Mar;83(3):288-90. doi: 10.1111/j.1399-0004.2012.01901.x. Epub 2012 Jul 23. Clin Genet. 2013. PMID: 22823409 Free PMC article. No abstract available.
The Italian XLMR bank: a clinical and molecular database.
Pescucci C, Caselli R, Mari F, Speciale C, Ariani F, Bruttini M, Sampieri K, Mencarelli MA, Scala E, Longo I, Artuso R, Renieri A, Meloni I; XLMR Italian Network. Pescucci C, et al. Among authors: artuso r. Hum Mutat. 2007 Jan;28(1):13-8. doi: 10.1002/humu.20411. Hum Mutat. 2007. PMID: 16983648
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: artuso 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.
Italian Rett database and biobank.
Sampieri K, Meloni I, Scala E, Ariani F, Caselli R, Pescucci C, Longo I, Artuso R, Bruttini M, Mencarelli MA, Speciale C, Causarano V, Hayek G, Zappella M, Renieri A, Mari F. Sampieri K, et al. Among authors: artuso r. Hum Mutat. 2007 Apr;28(4):329-35. doi: 10.1002/humu.20453. Hum Mutat. 2007. PMID: 17186495
MECP2 deletions and genotype-phenotype correlation in Rett syndrome.
Scala E, Longo I, Ottimo F, Speciale C, Sampieri K, Katzaki E, Artuso R, Mencarelli MA, D'Ambrogio T, Vonella G, Zappella M, Hayek G, Battaglia A, Mari F, Renieri A, Ariani F. Scala E, et al. Among authors: artuso r. Am J Med Genet A. 2007 Dec 1;143A(23):2775-84. doi: 10.1002/ajmg.a.32002. Am J Med Genet A. 2007. PMID: 17968969
FOXG1 is responsible for the congenital variant of Rett syndrome.
Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol-Rosseto A, Pollazzon M, Buoni S, Spiga O, Ricciardi S, Meloni I, Longo I, Mari F, Broccoli V, Zappella M, Renieri A. Ariani F, et al. Among authors: artuso r. Am J Hum Genet. 2008 Jul;83(1):89-93. doi: 10.1016/j.ajhg.2008.05.015. Epub 2008 Jun 19. Am J Hum Genet. 2008. PMID: 18571142 Free PMC article.
The XLMR gene ACSL4 plays a role in dendritic spine architecture.
Meloni I, Parri V, De Filippis R, Ariani F, Artuso R, Bruttini M, Katzaki E, Longo I, Mari F, Bellan C, Dotti CG, Renieri A. Meloni I, et al. Among authors: artuso r. Neuroscience. 2009 Mar 17;159(2):657-69. doi: 10.1016/j.neuroscience.2008.11.056. Epub 2008 Dec 24. Neuroscience. 2009. PMID: 19166906
Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria.
Artuso R, Mencarelli MA, Polli R, Sartori S, Ariani F, Pollazzon M, Marozza A, Cilio MR, Specchio N, Vigevano F, Vecchi M, Boniver C, Dalla Bernardina B, Parmeggiani A, Buoni S, Hayek G, Mari F, Renieri A, Murgia A. Artuso R, et al. Brain Dev. 2010 Jan;32(1):17-24. doi: 10.1016/j.braindev.2009.02.004. Epub 2009 Apr 10. Brain Dev. 2010. PMID: 19362436
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.
Mencarelli MA, Spanhol-Rosseto A, Artuso R, Rondinella D, De Filippis R, Bahi-Buisson N, Nectoux J, Rubinsztajn R, Bienvenu T, Moncla A, Chabrol B, Villard L, Krumina Z, Armstrong J, Roche A, Pineda M, Gak E, Mari F, Ariani F, Renieri A. Mencarelli MA, et al. Among authors: artuso r. J Med Genet. 2010 Jan;47(1):49-53. doi: 10.1136/jmg.2009.067884. Epub 2009 Jul 2. J Med Genet. 2010. PMID: 19578037
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.
Parri V, Katzaki E, Uliana V, Scionti F, Tita R, Artuso R, Longo I, Boschloo R, Vijzelaar R, Selicorni A, Brancati F, Dallapiccola B, Zelante L, Hamel CP, Sarda P, Lalani SR, Grasso R, Buoni S, Hayek J, Servais L, de Vries BB, Georgoudi N, Nakou S, Petersen MB, Mari F, Renieri A, Ariani F. Parri V, et al. Among authors: artuso r. Eur J Hum Genet. 2010 Oct;18(10):1133-40. doi: 10.1038/ejhg.2010.59. Epub 2010 May 12. Eur J Hum Genet. 2010. PMID: 20461111 Free PMC article.
70 results