Savino M - Search Results

1

Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene.

Wijker M, Morgan NV, Herterich S, van Berkel CG, Tipping AJ, Gross HJ, Gille JJ, Pals G, Savino M, Altay C, Mohan S, Dokal I, Cavenagh J, Marsh J, van Weel M, Ortega JJ, Schuler D, Samochatova E, Karwacki M, Bekassy AN, Abecasis M, Ebell W, Kwee ML, de Ravel T, CG Mathew, et al. Wijker M, et al. Among authors: savino m. Eur J Hum Genet. 1999 Jan;7(1):52-9. doi: 10.1038/sj.ejhg.5200248. Eur J Hum Genet. 1999. PMID: 10094191

2

Spontaneous functional correction of homozygous fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism.

Waisfisz Q, Morgan NV, Savino M, de Winter JP, van Berkel CG, Hoatlin ME, Ianzano L, Gibson RA, Arwert F, Savoia A, Mathew CG, Pronk JC, Joenje H. Waisfisz Q, et al. Among authors: savino m. Nat Genet. 1999 Aug;22(4):379-83. doi: 10.1038/11956. Nat Genet. 1999. PMID: 10431244

3

Positional cloning of the Fanconi anaemia group A gene.

Fanconi anaemia/Breast cancer consortium. Fanconi anaemia/Breast cancer consortium. Nat Genet. 1996 Nov;14(3):324-8. doi: 10.1038/ng1196-324. Nat Genet. 1996. PMID: 8896564

4

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: savino m. Genomics. 1997 May 1;41(3):309-14. doi: 10.1006/geno.1997.4675. Genomics. 1997. PMID: 9169126

5

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. Among authors: savino m. Hum Genet. 1997 Jan;99(1):93-7. doi: 10.1007/s004390050318. Hum Genet. 1997. PMID: 9003502

6

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. Am J Hum Genet. 1997 Dec;61(6):1246-53. doi: 10.1086/301632. Am J Hum Genet. 1997. PMID: 9399890 Free PMC article.

7

The PISSLRE gene: structure, exon skipping, and exclusion as tumor suppressor in breast cancer.

Crawford J, Ianzano L, Savino M, Whitmore S, Cleton-Jansen AM, Settasatian C, d'apolito M, Seshadri R, Pronk JC, Auerbach AD, Verlander PC, Mathew CG, Tipping AJ, Doggett NA, Zelante L, Callen DF, Savoia A. Crawford J, et al. Among authors: savino m. Genomics. 1999 Feb 15;56(1):90-7. doi: 10.1006/geno.1998.5676. Genomics. 1999. PMID: 10036189

8

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. Hum Mutat. 2003 Oct;22(4):338-9. doi: 10.1002/humu.9180. Hum Mutat. 2003. PMID: 12955722

9

Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions.

Centra M, Memeo E, d'Apolito M, Savino M, Ianzano L, Notarangelo A, Liu J, Doggett NA, Zelante L, Savoia A. Centra M, et al. Among authors: savino m. Genomics. 1998 Aug 1;51(3):463-7. doi: 10.1006/geno.1998.5353. Genomics. 1998. PMID: 9721219

10

Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.

Seri M, Savino M, Bordo D, Cusano R, Rocca B, Meloni I, Di Bari F, Koivisto PA, Bolognesi M, Ghiggeri GM, Landolfi R, Balduini CL, Zelante L, Ravazzolo R, Renieri A, Savoia A. Seri M, et al. Among authors: savino m. Hum Genet. 2002 Feb;110(2):182-6. doi: 10.1007/s00439-001-0659-1. Epub 2001 Dec 14. Hum Genet. 2002. PMID: 11935325

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