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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)
Type-IV collagen related
diseases.
Pescucci C, Longo I,
Bruttini M, Mari F, Renieri A.
J
Nephrol.
2003 Mar-Apr;16(2):314-6.
3)
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.
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)
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.
6)
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.
7)
Quality assessment in
cytogenetic and molecular genetic testing: the experience of the Italian
Project on Standardisation and Quality Assurance.
Taruscio D, Falbo V,
Floridia G, Salvatore M, Pescucci C, Cantafora A, Marongiu C, Baroncini
A, Calzolari E, Cao A, Castaldo G, Bricarelli FD, Guanti G, Nitsch L,
Pignatti PF, Rosatelli C, Salvatore F, Zuffardi O.
Clin
Chem Lab Med.
2004;42(8):915-21.
8)
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.
9)
Chromosomal alterations
detected by comparative genomic hybridization in nonfunctioning
endocrine pancreatic tumors.
Floridia G, Grilli
G, Salvatore M, Pescucci C, Moore PS, Scarpa A, Taruscio D.
Cancer
Genet Cytogenet.
2005 Jan 1;156(1):23-30.
10)
Is Rett syndrome a
loss-of-imprinting disorder?
Pescucci C, Meloni
I, Renieri A.
Nat
Genet.
2005 Jan;37(1):10-1.
10)
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
11)
Thin glomerular basement
membrane disease: clinical significance of a morphological diagnosis--a
collaborative study of the Italian Renal Immunopathology Group.
Frascą GM,
Onetti-Muda A, Mari F, Longo I, Scala E, Pescucci C, Roccatello D, Alpa
M, Coppo R, Li Volti G, Feriozzi S, Bergesio F, Schena FP, Renieri A;
Italian Renal Immunopathology Group.
Nephrol
Dial Transplant.
2005 Mar;20(3):545-51.
12)
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.
13)
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.
14)
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.
15)
[Clinical and genetic features
of the Alport 'syndromes'].
Pescucci C, Longo I,
Mari F, Scala E, Bruttini M, Caselli R, Renieri A.
G Ital
Nefrol.
2005 Sep-Oct;22(5):466-76.
16)
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.
17)
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.
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