Mencarelli MA - Search Results

1

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: mencarelli ma. 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

2

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.

Longo I, Scala E, Mari F, Caselli R, Pescucci C, Mencarelli MA, Speciale C, Giani M, Bresin E, Caringella DA, Borochowitz ZU, Siriwardena K, Winship I, Renieri A, Meloni I. Longo I, et al. Among authors: mencarelli ma. Nephrol Dial Transplant. 2006 Mar;21(3):665-71. doi: 10.1093/ndt/gfi312. Epub 2005 Dec 7. Nephrol Dial Transplant. 2006. PMID: 16338941

3

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: mencarelli ma. Hum Mutat. 2007 Jan;28(1):13-8. doi: 10.1002/humu.20411. Hum Mutat. 2007. PMID: 16983648

4

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: mencarelli ma. 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.

5

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: mencarelli ma. Hum Mutat. 2007 Apr;28(4):329-35. doi: 10.1002/humu.20453. Hum Mutat. 2007. PMID: 17186495

6

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: mencarelli ma. 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

7

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. 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

8

A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears.

Caselli R, Mencarelli MA, Papa FT, Uliana V, Schiavone S, Strambi M, Pescucci C, Ariani F, Rossi V, Longo I, Meloni I, Renieri A, Mari F. Caselli R, et al. Among authors: mencarelli ma. Eur J Med Genet. 2007 Jul-Aug;50(4):315-21. doi: 10.1016/j.ejmg.2007.03.003. Epub 2007 Apr 14. Eur J Med Genet. 2007. PMID: 17512813

9

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: mencarelli ma. 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

10

Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation.

Caselli R, Mencarelli MA, Papa FT, Ariani F, Longo I, Meloni I, Vonella G, Acampa M, Auteri A, Vicari S, Orsi A, Hayek G, Renieri A, Mari F. Caselli R, et al. Among authors: mencarelli ma. Am J Med Genet A. 2008 May 1;146A(9):1195-9. doi: 10.1002/ajmg.a.32197. Am J Med Genet A. 2008. PMID: 18348270

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