The University of Siena PhD Course in
Genetics, Oncology and Clinical Medicine


PhD Graduate

Francesca ARIANI 

PhD Program years: 2002 - 2006





PUBLICATIONS DURING THE PHD PROGRAM
  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. 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.

  3. Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism.
    Palmeri S, Mari F, Meloni I, Malandrini A, Ariani F, Villanova M, Pompilio A, Schwarze U, Byers PH, Renieri A.
    Clin Genet. 2003 Jun;63(6):510-5.

  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. 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.

  6. 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

  7. 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.

  8. 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

  9. 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.

  10. 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.

  11. 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.

  12. 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.
ABSTRACTS OF CONFERENCE DURING THE PHD PROGRAM

1) Identificazione di un'ulteriore famiglia (MRX68) con mutazione nel gene FACL4 e proposta di un test rapido di screening per il ritardo mentale.(S.I.G.U. 2002, Verona)

2) Forme autosomiche di sindrome di Alport, un modello di trasmissione che sfuma tra dominante e recessivo: implicazioni per la pratica clinica e la consulenza genetica. (S.I.G.U. 2002, Verona)

3) Il gene MECP2 è implicato nella micropoligiria perisilviana? (S.I.G.U. 2002, Verona)

4) Mutazioni nel gene MYOC in famiglie con Glaucoma. (S.I.G.U. 2002, Verona)

5) Retinoblastoma Familiare:un caso di penetranza incompleta e uno di retinoma. (S.I.G.U. 2002, Verona)

6) Paziente con fenotipo Rett - like e delezione in 2q34: implicazioni per la patogenesi della sindrome di Rett. (S.I.G.U. 2002, Verona)

7) Autosomal form of Alport syndrome, a model between dominant and recessive inheritance: implications for clinical practice and genetic counseling. (A.S.H.G. 2002, Baltimora)

8) FACL4 is responsible for X-linked mental retardation in several families: proposal for a rapid screening of mentally retarded males. (A.S.H.G. 2002, Baltimora)

9) Tre pazienti con sindrome di Rett hanno un doppio difetto molecolare: una mutazione nel gene MECP2 e un riarrangiamento in 15q11. (S.I.G.U. 2003, Verona)

10) "Mutazioni MECP2 "de novo” o ereditate: implicazioni per la consulenza genetica.” (S.I.G.U. 2003, Verona)

11) Progetto italiano sul ritardo mentale X-legato. (S.I.G.U. 2003, Verona)

12) Il gene Optineurina (OPTN) non è implicato nel glaucoma primario ad angolo aperto. (S.I.G.U. 2003, Verona)

13) Preserved Speech Variant of the Rett syndrome. Clinical and molecular study in a patient. (XXXIV Congress of the Italian Neurological Society 2003, Roma)

14) Renieri A., Longo I., Ariani F., Meloni I., Zappella M., Russo L., Giordano T., Neri G., Gurrieri F. Rett patients with both MECP2 mutation and 15q11-13 rearrangements. (E.S.H.G. 2003, Birmingham)

15) XLMR Italian Network. (11th International Workshop on Fragile X Sindrome and X-Linked Mental Retardation 2003, Cipro)

16) The long-chain fatty acid-CoA ligase 4 (FACL4) gene is mutated in family MRX68. (11th International Workshop on Fragile X Sindrome and X-Linked Mental Retardation 2003, Cipro)

17) Sporadic Rett patients: prevalence of inherited versus de novo MECP2 mutations. (E.S.H.G. 2003, Birmingham)

18) Rett patients with both MECP” mutations and 15q11-q13 rearrangments (A.S.H.G. 2003, Los Angeles)

19) Mosaicismo germinale nella sindrome di Rett: è forse più frequente di quanto non ci si attenda? (S.I.G.U. 2004, Pisa)

20) STK9 è mutato nella variante di sindrome di Rett con spasmi infantili. (S.I.G.U. 2004, Pisa)

21) Mutazioni missenso nel gene MYOC in pazienti in una famiglia con glaucoma primario dell’adulto. (Congresso Associazione Italiana Glaucoma 2004, Rapallo)

22) Analysis of Optineurin gene in Italian primary open angle glaucoma families. (American Academy of Ophtalmology 2004, CA)

23) Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: report of three cases of MECP2 deletion and one case of MECP2 duplication. (E.S.H.G. 2004, Munich)

24) Germ –line mosaicism in Rett sindrome: is it more common than expected? (E.S.H.G. 2004, Munich)

25) A case of prenatal diagnosis of Rett sindrome due to germ-line mosaicism. (A.S.H.G. 2004, Toronto)

26) Delezione del gene MECP2 identificata mediante qPCR in un caso familiare di sindrome di Rett. (S.I.G.U. 2005, Domus de Maria-Cagliari)

27) Sindrome di Cohen: analisi molecolare del gene COH1 in un gruppo di pazienti Italiani. (S.I.G.U. 2005, Domus de Maria-Cagliari)

28) RETTBASE: la banca italiana per la sindrome di Rett. (S.I.G.U. 2005, Domus de Maria-Cagliari)

29) FACL4 and mental retardation: cellular and mouse models. (Convention Telethon 2005, Salsomaggiore Terme)

30) Cell line and DNA bank of Rett syndrome and other X-linked mental retardation. (Convention Telethon 2005, Salsomaggiore Terme)

31) CDKL5 interacts with MeCP2 and it is responsible for the early seizure variant of Rett syndrome. (12th International Workshop on Fragile X and X-linked Mental Retardation 2005, Williamsburg, VA)

32) CDKL5 interacts with MeCP2 and it is responsible for the early seizure variant of Rett syndrome. (E.S.H.G. 2005, Prague)

33) Cohen syndrome: molecular analysis of the COH1 gene in the Italian cohort of patients. (E.S.H.G. 2005, Praga)

34) X-linked mental retardation Italian network. (E.S.H.G. 2005, Praga)

35) Characterization of a balanced X/autosomal translocation in a female patient displaying a Rett-like phenotype. (E.S.H.G. 2005, Praga).

36) Italian bank of Rett sindrome. (12th International Workshop on Fragile X and X-linked Mental Retardation 2005, Williamsburg, VA)

37) X-Linked Mental Retardation Italian Network. (12th International Workshop on Fragile X and X-linked Mental Retardation 2005, Williamsburg, VA)

38) Ariani F., Meloni I., Pescucci C., Sampieri K., Longo I., Mari F., Bruttini M., Scala E., Caselli R., Speciale C., Renieri A. A new web tool: the Italian Bank of Rett Syndrome. (A.S.H.G. 2005, Salt Lake City)

39) CDKL5 and the early onset seizure variant of Rett syndrome: clinical and molecular characterization. (A.S.H.G. 2005, Salt Lake City)

40) KCNH2: a good candidate for the cardiac phenotype observed in Rett syndrome. (E.S.H.G. 2006, Amsterdam).

41) MECP2 large deletions and exon 1 mutations in RTT patients. (A.S.H.G. 2006, New Orleans).

42) Il gene CDKL5 e la variante di sindrome di Rett con convulsioni ad esordio precoce (S.I.G.U. 2006, Venezia).

43) Mutazioni nell’esone 1 e grandi delezioni del gene MECP2 nella sindrome di Rett. (S.I.G.U. Venezia, 2006)

ACTIVITY DURING THE PHD PROGRAM

TRAINING PERIOD ABROAD
    Jan Schouten Lab, MRC Holland, Amsterdam, The Netherlands
    2006: three months