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.
2)
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.
J Med Genet.
2010 Jan;47(1):49-53. Epub 2009 Jul 2.
3)
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.
4)
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.
Neuroscience. 2009 Mar 17;159(2):657-69. Epub 2008 Dec 24.
5)
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4
gene and clinical outcome.
Marcocci E, Uliana V, Bruttini M, Artuso R, Silengo MC, Zerial M,
Bergesio F, Amoroso A, Savoldi S, Pennesi M, Giachino D, Rombolà G,
Fogazzi GB, Rosatelli C, Martinhago CD, Carmellini M, Mancini R, Di
Costanzo G, Longo I, Renieri A, Mari F.
Nephrol Dial Transplant. 2009 May;24(5):1464-71. Epub 2009
Jan 7.
6)
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated
with overgrowth and delayed bone age.
Uliana V, Grosso S, Cioni M, Ariani F, Papa FT, Tamburello S, Rossi
E, Katzaki E, Mucciolo M, Marozza A, Pollazzon M, Mencarelli MA,
Mari F, Balestri P, Renieri A.
Eur
J Med Genet. 2010 May-Jun;53(3):168-70. Epub 2010 Feb 26.
7)
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.
8)
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.
9)
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.
Clin
Genet. 2008 Mar;73(3):294-6. Epub 2008 Jan 23
10)
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.
11)
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.
Hum
Mutat. 2007 Jan;28(1):13-8.
12)
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.
Nephrol Dial Transplant. 2006 Mar;21(3):665-71. Epub 2005 Dec
7.
13)
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.
14)
Is Rett syndrome a loss-of-imprinting disorder?
Pescucci C, Meloni I, Renieri A.
Nat
Genet. 2005 Jan;37(1):10-1
15)
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.
Hum
Mutat. 2004 Aug;24(2):172-7.
16)
Autosomal-dominant Alport syndrome: natural history of a disease due
to COL4A3 or COL4A4 gene.
Pescucci C, Mari F, Longo I, Vogiatzi P, Caselli R, Scala E,
Abaterusso C, Gusmano R, Seri M, Miglietti N, Bresin E, Renieri A.
Kidney Int. 2004 May;65(5):1598-603.
17)
Mutations in the myocilin gene in families with primary open-angle
glaucoma and juvenile open-angle glaucoma.
Bruttini M, Longo I, Frezzotti P, Ciappetta R, Randazzo A, Orzalesi
N, Fumagalli E, Caporossi A, Frezzotti R, Renieri A.
Arch Ophthalmol.
2003 Jul;121(7):1034-8.
18)
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.
Am J Med Genet B Neuropsychiatr Genet. 2003 May
15;119B(1):102-7.
19)
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.
J Med Genet.
2003 Feb;40(2):132-5. No abstract available.
20)
A third MRX family (MRX68) is the result of mutation in the long
chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid
enzymatic assay for screening mentally retarded patients.
Longo I, Frints SG, Fryns JP, Meloni I, Pescucci C, Ariani F,
Borghgraef M, Raynaud M, Marynen P, Schwartz C, Renieri A, Froyen G.
J Med Genet.
2003 Jan;40(1):11-7.