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

2

Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles.

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. Savino M, et al. Among authors: zelante l. Hum Mutat. 2004 Nov;24(5):441. doi: 10.1002/humu.9289. Hum Mutat. 2004. PMID: 15459969

3

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: zelante l. Hum Genet. 1997 Jan;99(1):93-7. doi: 10.1007/s004390050318. Hum Genet. 1997. PMID: 9003502

4

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

5

Molecular basis of Fanconi anemia.

d'Apolito M, Zelante L, Savoia A. d'Apolito M, et al. Among authors: zelante l. Haematologica. 1998 Jun;83(6):533-42. Haematologica. 1998. PMID: 9676027 Review.

6

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: zelante l. Genomics. 1998 Aug 1;51(3):463-7. doi: 10.1006/geno.1998.5353. Genomics. 1998. PMID: 9721219

7

Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.

Bisceglia L, Di Perna M, Zelante L. Bisceglia L, et al. Among authors: zelante l. Hum Genet. 2007 Sep;122(2):207. doi: 10.1007/s00439-007-0398-z. Hum Genet. 2007. PMID: 17629748 No abstract available.

8

Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.

Bisceglia L, Di Perna M, Zelante L. Bisceglia L, et al. Among authors: zelante l. Hum Genet. 2007 Sep;122(2):208. Hum Genet. 2007. PMID: 18386347 No abstract available.

9

Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria.

Bisceglia L, Di Perna M, Zelante L. Bisceglia L, et al. Among authors: zelante l. Hum Genet. 2007 Sep;122(2):208. Hum Genet. 2007. PMID: 18386348 No abstract available.

10

Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria.

Bisceglia L, Di Perna M, Zelante L. Bisceglia L, et al. Among authors: zelante l. Hum Genet. 2007 Sep;122(2):209. Hum Genet. 2007. PMID: 18386351 No abstract available.

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