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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)
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
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)
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.
8)
2q24-q31 deletion: report of a
case and review of the literature.
Pescucci C, Caselli R, Grosso S, Mencarelli MA, Mari F, Farnetani MA,
Piccini B, Artuso R, Bruttini M, Priolo M, Zuffardi O, Gimelli S,
Balestri P, Renieri A.
Eur J
Med Genet.
2007 Jan-Feb;50(1):21-32.
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)
Clinical and molecular
characterization of a patient with a 2q31.2-32.3 deletion identified by
array-CGH.
Mencarelli MA, Caselli R, Pescucci C, Hayek G, Zappella M, Renieri A,
Mari F.
Am J Med
Genet A.
2007 Apr 15;143A(8):858-65
11)
Retinoblastoma and mental
retardation microdeletion syndrome: clinical characterization and
molecular dissection using array CGH.
Caselli R, Speciale C, Pescucci C, Uliana V, Sampieri K, Bruttini M,
Longo I, De Francesco S, Pramparo T, Zuffardi O, Frezzotti R, Acquaviva
A, Hadjistilianou T, Renieri A, Mari F.
J Hum
Genet.
2007;52(6):535-42.
12)
A 2.6 Mb deletion of
6q24.3-25.1 in a patient with growth failure, cardiac septal defect,
thin upperlip and asymmetric dysmorphic ears.
Caselli R, Mencarelli MA, Papa FT, Uliana V, Schiavone S, Strambi M,
Pescucci C, Ariani F, Rossi V, Longo I, Meloni I, Renieri A, Mari F.
Eur J Med Genet.
2007 Jul-Aug;50(4):315-21.
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