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1)
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.
2)
Rett
syndrome: the complex nature of a monogenic disease.
Renieri A,
Meloni I, Longo I, Ariani F, Mari F, Pescucci C, Cambi F.
J Mol Med.
2003 Jun;81(6):346-54.
3)
Neurological presentation of Ehlers-Danlos syndrome type IV in a family
with parental mosaicism.
Palmeri S,
Mari F, Meloni I, Malandrini A, Ariani F, Villanova M, Pompilio A,
Schwarze U, Byers PH, Renieri A.
Clin Genet.
2003 Jun;63(6):510-5.
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.
Clin Genet.
2003 Dec;64(6):497-501.
5)
Three Rett patients with both MECP2 mutation and 15q11-13
rearrangements.
Longo I,
Russo L, Meloni I, Ricci I, Ariani F, Pescucci C, Giordano CT, Canitano
R, Hayek G, Zappella M, Neri G, Renieri A, Gurrieri F.
Eur J Hum Genet.
2004 Aug;12(8):682-5.
6)
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
7)
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms.
Scala E,
Ariani F, Mari F, Caselli R, Pescucci C, Longo I, Meloni I, Giachino D,
Bruttini M, Hayek G, Zappella M, Renieri A.
J Med Genet.
2005 Feb;42(2):103-7.
8)
Non-syndromic
X-linked mental retardation: from a molecular to a clinical point of
view.
Renieri A,
Pescucci C, Longo I, Ariani F, Mari F, Meloni I.
J Cell Physiol.
2005 Jul;204(1):8-20
9)
Germline
mosaicism in Rett syndrome identified by prenatal diagnosis.
Mari F,
Caselli R, Russo S, Cogliati F, Ariani F, Longo I, Bruttini M, Meloni I,
Pescucci C, Schurfeld K, Toti P, Tassini M, Larizza L, Hayek G, Zappella
M, Renieri A.
Clin Genet.
2005 Mar;67(3):258-60.
10)
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.
11)
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.
12)
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.
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