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1)
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
2)
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
3)
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.
4)
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.
5)
[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.
6)
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.
7)
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
8)
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.
9)
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.
10)
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
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