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Arbustini E, Grasso M, Ansaldi S, Malattia C, Pilotto A, Porcu E, Disabella E, Marziliano N, Pisani A, Lanzarini L, Mannarino S, Larizza D, Mosconi M, Antoniazzi E, Zoia MC, Meloni G, Magrassi L, Brega A, Bedeschi MF, Torrente I, Mari F, Tavazzi L. Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.Hum Mutat. 2005 Nov;26(5):494.
Zappella M, Mari F, Renieri A. Should a syndrome be called by its correct name? The example of the preserved speech variant of Rett syndrome. Eur J Pediatr. 2005 Nov;164(11):710.
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. CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Hum Mol Genet. 2005 Jul 15;14(14):1935-46.
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. Germline mosaicism in Rett syndrome identified by prenatal diagnosis. Clin Genet. 2005 Mar;67(3):258-60.
Scala E, Ariani F, Mari F, Caselli R, Pescucci C, Longo I, Meloni I, Giachino D, Bruttini M, Hayek G, Zappella M, Renieri A. CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. J Med Genet. 2005 Feb;42(2):103-7.
Frasca 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. Thin glomerular basement membrane disease: clinical significance of a morphological diagnosis--a collaborative study of the Italian Renal Immunopathology Group. Nephrol Dial Transplant. 2005 Mar;20(3):545-51.
Savino M, d'Apolito M, Formica V, Baorda F, Mari F, Renieri A, Carabba E, Tarantino E, Andreucci E, Belli S, Lo Muzio L, Dallapiccola B, Zelante L, Savoia A. Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles. Hum Mutat. 2004 Nov;24(5):441.
Ariani F, Mari F, Pescucci C, Longo I, Bruttini M, Meloni I, Hayek G, Rocchi R, Zappella M, Renieri A. 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. Hum Mutat. 2004 Aug;24(2):172-7.
Pescucci C, Mari F, Longo I, Vogiatzi P, Caselli R, Scala E, Abaterusso C, Gusmano R, Seri M, Miglietti N, Bresin E, Renieri A. Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. Kidney Int. 2004 May;65(5):1598-603.
Gambelli S, Malandrini A, Ginanneschi F, Berti G, Cardaioli E, De Stefano R, Franci M, Salvadori C, Mari F, Bruttini M, Rossi A, Federico A, Renieri A. Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy. Eur Neurol. 2004;51(3):144-7.
Pescucci C, Meloni I, Bruttini M, Ariani F, Longo I, Mari F, Canitano R, Hayek G, Zappella M, Renieri A. Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features. Clin Genet. 2003 Dec;64(6):497-501.
Di Leva F, D'Adamo AP, Strollo L, Auletta G, Caravelli A, Carella M, Mari F, Livi W, Renieri A, Gasparini P, D'Urso M, Marciano E, Franze A. Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian families. Int J Audiol. 2003 Dec;42(8):475-80.
Palmeri S, Mari F, Meloni I, Malandrini A, Ariani F, Villanova M, Pompilio A, Schwarze U, Byers PH, Renieri A. Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism. Clin Genet. 2003 Jun;63(6):510-5.
Zappella M, Meloni I, Longo I, Canitano R, Hayek G, Rosaia L, Mari F, Renieri A. Study of MECP2 gene in Rett syndrome variants and autistic girls. Am J Med Genet B Neuropsychiatr Genet. 2003 May 15;119(1):102-7.
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. Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family. J Med Genet. 2003 Feb;40(2):132-5.
Ruggero D, Grisendi S, Piazza F, Rego E, Mari F, Rao PH, Cordon-Cardo C, Pandolfi PP. Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA
modification. Science. 2003 Jan 10;299(5604):259-62.
Longo I, Porcedda P, Mari F, Giachino D, Meloni I, Deplano C, Brusco A, Bosio M, Massella L, Lavoratti G, Roccatello D, Frasca G, Mazzucco G, Muda AO, Conti M,
Fasciolo F, Arrondel C, Heidet L, Renieri A, De Marchi M. COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome. Kidney Int. 2002 Jun;61(6):1947-56.
Review su invito
A) Pescucci C,
Longo I, Bruttini M, Mari F, Renieri A. Type-IV collagen
related diseases. J Nephrol. 2003 Mar-Apr;16(2):314-6.
B) Renieri A,
Meloni I, Longo I, Ariani F, Mari F, Pescucci C, Cambi F.
Rett syndrome: the complex nature of a monogenic disease. J Mol Med.
2003 Jun;81(6):346-54.
C) Renieri A,
Pescucci C, Longo I, Ariani F, Mari F, Meloni I.
Non-syndromic X-linked mental retardation: from a molecular to a
clinical point of view. J Cell Physiol 2005 Jul;204(1):8-20.
D) Pescucci C,
Longo I, Mari F, Scala E, Bruttini M, Caselli R, Renieri
A. Clinical and genetic features of the Alport 'syndromes'. G Ital
Nefrol. 2005 Sep-Oct;22(5):466-76.
E) Mari F,
Caselli R, Ariani F, Renieri A. La sindrome di Rett e le varianti
fenotipiche: dalla clinica alla genetica. Prospettive in Pediatria
2005; 35: 211-220.
F) Mari F,
Kilstrup-Nielsen C, Cambi F, Speciale C, Mencarelli MA, Renieri A. Genetics and
mechanisms of disease in Rett syndrome. Drug Discovery Today:
Disease Mechanisms, Volume
2, Issue 4, Winter 2005, Pages 419-425.
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