DOCTORATE IN MEDICAL GENETICS
DOTTORATO DI RICERCA IN GENETICA MEDICA

UNIVERSITA' DEGLI STUDI  DI SIENA

Phd Students

Francesca Ariani, Francesca Mari, Chiara Pescucci, Ilaria Longo, Mirella Bruttini, Ilaria Meloni, Giuseppe Hayek, Raffaele Rocchi, 
Michele Zappella, Alessandra Renieri.
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. 
Human Mutation, in press.

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. 
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements. Eur J Hum Genet. 2004 Apr 7 [Epub ahead of print] 

Chiara Pescucci, Francesca Mari, Ilaria Longo, Paraskevi Vogiatzi, Rossella Caselli, Elisa Scala, Cataldo Abaterusso, Rosanna Gusmano,
 Marco Seri, Nunzia Miglietti, Elena Bresin and Alessandra Renieri.
Autosomal dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. 
Kidney Int. 2004 May;65(5):1598-603.

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. 

Pescucci C, Longo I, Bruttini M, Mari F, Renieri A. 

Type-IV collagen related diseases.

J Nephrol. 2003 Mar-Apr;16(2):314-6. Review. 

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. Epub 2003 May 16. 

Longo I, Frints SG, Fryns JP, Meloni I, Pescucci C, Ariani F, Borghgraef M, Raynaud M, Marynen P, Schwartz C, Renieri A, Froyen G. 

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.

J Med Genet. 2003 Jan;40(1):11-7. 

Torricelli F, Pescucci C. 

Isolation of fetal cells from the maternal circulation: prospects for the

non-invasive prenatal diagnosis.

Clin Chem Lab Med. 2001 Jun;39(6):494-500. Review.