Mari F - Search Results

1

Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder.

Newbury DF, Mari F, Sadighi Akha E, Macdermot KD, Canitano R, Monaco AP, Taylor JC, Renieri A, Fisher SE, Knight SJ. Newbury DF, et al. Among authors: mari f. Eur J Hum Genet. 2013 Apr;21(4):361-5. doi: 10.1038/ejhg.2012.166. Epub 2012 Aug 22. Eur J Hum Genet. 2013. PMID: 22909776 Free PMC article. No abstract available.

2

Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family.

Giordano N, Gennari L, Bruttini M, Mari F, Meloni I, Baldi C, Capoccia S, Geraci S, Merlotti D, Amendola A, Martini G, Nuti R, Gennari C, Renieri A. Giordano N, et al. Among authors: mari f. J Med Genet. 2003 Feb;40(2):132-5. doi: 10.1136/jmg.40.2.132. J Med Genet. 2003. PMID: 12566523 Free PMC article. No abstract available.

3

Study of MECP2 gene in Rett syndrome variants and autistic girls.

Zappella M, Meloni I, Longo I, Canitano R, Hayek G, Rosaia L, Mari F, Renieri A. Zappella M, et al. Among authors: mari f. Am J Med Genet B Neuropsychiatr Genet. 2003 May 15;119B(1):102-7. doi: 10.1002/ajmg.b.10070. Am J Med Genet B Neuropsychiatr Genet. 2003. PMID: 12707946

4

Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features.

Pescucci C, Meloni I, Bruttini M, Ariani F, Longo I, Mari F, Canitano R, Hayek G, Zappella M, Renieri A. Pescucci C, et al. Among authors: mari f. Clin Genet. 2003 Dec;64(6):497-501. doi: 10.1046/j.1399-0004.2003.00176.x. Clin Genet. 2003. PMID: 14986829

5

Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.

Ariani F, Mari F, Pescucci C, Longo I, Bruttini M, Meloni I, Hayek G, Rocchi R, Zappella M, Renieri A. Ariani F, et al. Among authors: mari f. Hum Mutat. 2004 Aug;24(2):172-7. doi: 10.1002/humu.20065. Hum Mutat. 2004. PMID: 15241799

6

Should a syndrome be called by its correct name? The example of the preserved speech variant of Rett syndrome.

Zappella M, Mari F, Renieri A. Zappella M, et al. Among authors: mari f. Eur J Pediatr. 2005 Nov;164(11):710; author reply 711-2. doi: 10.1007/s00431-005-1717-9. Epub 2005 Jul 12. Eur J Pediatr. 2005. PMID: 16010564 No abstract available.

7

Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations.

Sampieri K, Hadjistilianou T, Mari F, Speciale C, Mencarelli MA, Cetta F, Manoukian S, Peissel B, Giachino D, Pasini B, Acquaviva A, Caporossi A, Frezzotti R, Renieri A, Bruttini M. Sampieri K, et al. Among authors: mari f. J Hum Genet. 2006;51(3):209-216. doi: 10.1007/s10038-005-0348-3. Epub 2006 Feb 4. J Hum Genet. 2006. PMID: 16463005

8

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: mari f. 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.

9

Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease.

Squillaro T, Cambi F, Ciacci G, Rossi S, Ulivelli M, Malandrini A, Mencarelli MA, Mari F, Renieri A, Ariani F. Squillaro T, et al. Among authors: mari f. J Hum Genet. 2007;52(3):201-204. doi: 10.1007/s10038-006-0105-2. Epub 2007 Jan 18. J Hum Genet. 2007. PMID: 17235449

10

Clinical and molecular characterization of a patient with a 2q31.2-32.3 deletion identified by array-CGH.

Mencarelli MA, Caselli R, Pescucci C, Hayek G, Zappella M, Renieri A, Mari F. Mencarelli MA, et al. Among authors: mari f. Am J Med Genet A. 2007 Apr 15;143A(8):858-65. doi: 10.1002/ajmg.a.31602. Am J Med Genet A. 2007. PMID: 17352388

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