SPECIALTY SCHOOL IN MEDICAL GENETICS
 

UNIVERSITY OF SIENA

 

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Publications during the specialty course
 
Ariani Francesca

 

1) CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.

Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, Scala E, Longo I, Grosso S, Pescucci C, Ariani F, Hayek G, Balestri P, Bergo A, Badaracco G, Zappella M, Broccoli V, Renieri A, Kilstrup-Nielsen C, Landsberger N.

Hum Mol Genet. 2005 Jul 15;14(14):1935-46. Epub 2005 May 25.

 

2) Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma.

Ariani F, Longo I, Frezzotti P, Pescucci C, Mari F, Caporossi A, Frezzotti R, Renieri A.

Graefes Arch Clin Exp Ophthalmol. 2006 Sep;244(9):1077-82. Epub 2006 Jan 27.

 

3) Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case.

Mari F, Giachino D, Russo L, Pilia G, Ariani F, Scala E, Chiappe F, Sampieri K, Caporossi A, Renieri A, Lasorella G.

J AAPOS. 2006 Jun;10(3):279-80.

 

4) 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.

Hum Mutat. 2007 Apr;28(4):329-35.

 

5) 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.

J Hum Genet. 2007;52(3):201-4. Epub 2007 Jan 18.

 

6) RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome.

Micheli V, Sestini S, Parri V, Fichera M, Romano C, Ariani F, Longo I, Mari F, Bruttini M, Renieri A, Meloni I.

Clin Chim Acta. 2007 Sep;384(1-2):35-40. Epub 2007 May 26.

 

7) 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.

Am J Med Genet A. 2007 Dec 1;143A(23):2775-84.

 

8) Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

Katzaki E, Pescucci C, Uliana V, Papa FT, Ariani F, Meloni I, Priolo M, Selicorni A, Milani D, Fischetto R, Celle ME, Grasso R, Dallapiccola B, Brancati F, Bordignon M, Tenconi R, Federico A, Mari F, Renieri A, Longo I.

J Hum Genet. 2007;52(12):1011-7. Epub 2007 Nov 8. Erratum in: J Hum Genet. 2008 Mar;53(3):285.

 

9) 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.

Clin Dysmorphol. 2008 Jan;17(1):13-7.

 

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.

Am J Med Genet A. 2008 May 1;146A(9):1195-9.

 

11) 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.

Am J Hum Genet. 2008 Jul;83(1):89-93. Epub 2008 Jun 19.

 

12) A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.

Papa FT, Mencarelli MA, Caselli R, Katzaki E, Sampieri K, Meloni I, Ariani F, Longo I, Maggio A, Balestri P, Grosso S, Farnetani MA, Berardi R, Mari F, Renieri A.

Am J Med Genet A. 2008 Aug 1;146A(15):1994-8.

 

13) 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.

Eur J Med Genet. 2008 Sep-Oct;51(5):409-16. Epub 2008 Jul 9.

 

14) Genomic differences between retinoma and retinoblastoma.

Sampieri K, Mencarelli MA, Epistolato MC, Toti P, Lazzi S, Bruttini M, De Francesco S, Longo I, Meloni I, Mari F, Acquaviva A, Hadjistilianou T, Renieri A, Ariani F.

Acta Oncol. 2008;47(8):1483-92.

 

15) Array comparative genomic hybridization in retinoma and retinoblastoma tissues.

Sampieri K, Amenduni M, Papa FT, Katzaki E, Mencarelli MA, Marozza A, Epistolato MC, Toti P, Lazzi S, Bruttini M, De Filippis R, De Francesco S, Longo I, Meloni I, Mari F, Acquaviva A, Hadjistilianou T, Renieri A, Ariani F.

Cancer Sci. 2009 Mar;100(3):465-71. Epub 2009 Jan 29.

 

16) 14q12 Microdeletion syndrome and congenital variant of Rett syndrome.

Mencarelli MA, Kleefstra T, Katzaki E, Papa FT, Cohen M, Pfundt R, Ariani F, Meloni I, Mari F, Renieri A.

Eur J Med Genet. 2009 Mar-Jun;52(2-3):148-52. Epub 2009 Mar 19.

 

17) Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls.

Makrythanasis P, Kapranov P, Bartoloni L, Reymond A, Deutsch S, Guigó R, Denoeud F, Drenkow J, Rossier C, Ariani F, Capra V, Excoffier L, Renieri A, Gingeras TR, Antonarakis SE.

Hum Mutat. 2009 Sep;30(9):E866-79.