Savoia A - Search Results

1

Spectrum of FANCA mutations in Italian Fanconi anemia patients: identification of six novel alleles and phenotypic characterization of the S858R variant.

Savino M, Borriello A, D'Apolito M, Criscuolo M, Del Vecchio M, Bianco AM, Di Perna M, Calzone R, Nobili B, Zatterale A, Zelante L, Joenje H, Della Ragione F, Savoia A. Savino M, et al. Among authors: savoia a. Hum Mutat. 2003 Oct;22(4):338-9. doi: 10.1002/humu.9180. Hum Mutat. 2003. PMID: 12955722

2

Characterization of the 5' region of the Fanconi anaemia group C (FACC) gene.

Savoia A, Centra M, Ianzano L, de Cillis GP, Zelante L, Buchwald M. Savoia A, et al. Hum Mol Genet. 1995 Aug;4(8):1321-6. doi: 10.1093/hmg/4.8.1321. Hum Mol Genet. 1995. PMID: 7581369

3

Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients.

Savoia A, Ianzano L, Lunardi C, De Sandre G, Carotenuto M, Musto P, Zelante L. Savoia A, et al. Hum Genet. 1996 Jan;97(1):45-8. doi: 10.1007/BF00218831. Hum Genet. 1996. PMID: 8557259

4

Fanconi anaemia in Italy: high prevalence of complementation group A in two geographic clusters.

Savoia A, Zatterale A, Del Principe D, Joenje H. Savoia A, et al. Hum Genet. 1996 May;97(5):599-603. doi: 10.1007/BF02281868. Hum Genet. 1996. PMID: 8655138

5

Molecular characterization of Fanconi anaemia group C (FAC) gene polymorphisms.

Savoia A, Centra M, Ianzano L, Pio de Cillis G, Buchwald M, Zelante L. Savoia A, et al. Mol Cell Probes. 1996 Jun;10(3):213-8. doi: 10.1006/mcpr.1996.0029. Mol Cell Probes. 1996. PMID: 8799375

6

Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA.

Lo Ten Foe JR, Rooimans MA, Bosnoyan-Collins L, Alon N, Wijker M, Parker L, Lightfoot J, Carreau M, Callen DF, Savoia A, Cheng NC, van Berkel CG, Strunk MH, Gille JJ, Pals G, Kruyt FA, Pronk JC, Arwert F, Buchwald M, Joenje H. Lo Ten Foe JR, et al. Among authors: savoia a. Nat Genet. 1996 Nov;14(3):320-3. doi: 10.1038/ng1196-320. Nat Genet. 1996. PMID: 8896563

7

Linkage analysis of Fanconi anaemia in Italy and mapping of the complementation group A gene.

Savoia A, Piemontese MR, Savino M, Zatterale A, Pronk J, Arwert F, Joenje H, Ramenghi U, Dagna-Bricarelli F, Dallapiccola B, Zelante L. Savoia A, et al. Hum Genet. 1997 Jan;99(1):93-7. doi: 10.1007/s004390050318. Hum Genet. 1997. PMID: 9003502

8

Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the Expressed Sequence Tags database.

Tiranti V, Savoia A, Forti F, D'Apolito MF, Centra M, Rocchi M, Zeviani M. Tiranti V, et al. Among authors: savoia a. Hum Mol Genet. 1997 Apr;6(4):615-25. doi: 10.1093/hmg/6.4.615. Hum Mol Genet. 1997. PMID: 9097968

9

The genomic organization of the Fanconi anemia group A (FAA) gene.

Ianzano L, D'Apolito M, Centra M, Savino M, Levran O, Auerbach AD, Cleton-Jansen AM, Doggett NA, Pronk JC, Tipping AJ, Gibson RA, Mathew CG, Whitmore SA, Apostolou S, Callen DF, Zelante L, Savoia A. Ianzano L, et al. Among authors: savoia a. Genomics. 1997 May 1;41(3):309-14. doi: 10.1006/geno.1997.4675. Genomics. 1997. PMID: 9169126

10

Mutations of the Fanconi anemia group A gene (FAA) in Italian patients.

Savino M, Ianzano L, Strippoli P, Ramenghi U, Arslanian A, Bagnara GP, Joenje H, Zelante L, Savoia A. Savino M, et al. Among authors: savoia a. Am J Hum Genet. 1997 Dec;61(6):1246-53. doi: 10.1086/301632. Am J Hum Genet. 1997. PMID: 9399890 Free PMC article.

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