Ballabio A - Search Results

1

FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation.

Piccini M, Vitelli F, Bruttini M, Pober BR, Jonsson JJ, Villanova M, Zollo M, Borsani G, Ballabio A, Renieri A. Piccini M, et al. Among authors: ballabio a. Genomics. 1998 Feb 1;47(3):350-8. doi: 10.1006/geno.1997.5104. Genomics. 1998. PMID: 9480748 Free article.

2

Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?

Jonsson JJ, Renieri A, Gallagher PG, Kashtan CE, Cherniske EM, Bruttini M, Piccini M, Vitelli F, Ballabio A, Pober BR. Jonsson JJ, et al. Among authors: ballabio a. J Med Genet. 1998 Apr;35(4):273-8. doi: 10.1136/jmg.35.4.273. J Med Genet. 1998. PMID: 9598718 Free PMC article.

3

Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome.

Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AA, Lewis RA, Ballabio A. Bassi MT, et al. Among authors: ballabio a. Nat Genet. 1995 May;10(1):13-9. doi: 10.1038/ng0595-13. Nat Genet. 1995. PMID: 7647783

4

Deletion spanning the 5' ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis.

Renieri A, Bassi MT, Galli L, Zhou J, Giani M, De Marchi M, Ballabio A. Renieri A, et al. Among authors: ballabio a. Hum Mutat. 1994;4(3):195-8. doi: 10.1002/humu.1380040304. Hum Mutat. 1994. PMID: 7833948

5

Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome.

Renieri A, Galli L, Grillo A, Bruttini M, Neri T, Zanelli P, Rizzoni G, Massella L, Sessa A, Meroni M, Peratoner L, Riegler P, Scolari F, Mileti M, Giani M, Cossu M, Savi M, Ballabio A, De Marchi M. Renieri A, et al. Among authors: ballabio a. Am J Med Genet. 1995 Nov 20;59(3):380-5. doi: 10.1002/ajmg.1320590320. Am J Med Genet. 1995. PMID: 8599366

6

X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.

Renieri A, Bruttini M, Galli L, Zanelli P, Neri T, Rossetti S, Turco A, Heiskari N, Zhou J, Gusmano R, Massella L, Banfi G, Scolari F, Sessa A, Rizzoni G, Tryggvason K, Pignatti PF, Savi M, Ballabio A, De Marchi M. Renieri A, et al. Among authors: ballabio a. Am J Hum Genet. 1996 Jun;58(6):1192-204. Am J Hum Genet. 1996. PMID: 8651296 Free PMC article.

7

Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 region.

Puca AA, Zollo M, Repetto M, Andolfi G, Guffanti A, Simon G, Ballabio A, Franco B. Puca AA, et al. Among authors: ballabio a. Genomics. 1997 Jun 1;42(2):192-9. doi: 10.1006/geno.1997.4716. Genomics. 1997. PMID: 9192838

8

Molecular diagnosis of Alport syndrome: the experience in Siena.

Renieri A, Bruttini M, Piccini M, Bruno M, Cecconi M, Conti M, Coppo R, La Manna A, Trivelli A, De Marchi M, Ballabio A. Renieri A, et al. Among authors: ballabio a. Contrib Nephrol. 1997;122:132-3. doi: 10.1159/000059882. Contrib Nephrol. 1997. PMID: 9399055 No abstract available.

9

Cloning and characterization of NEU2, a human gene homologous to rodent soluble sialidases.

Monti E, Preti A, Rossi E, Ballabio A, Borsani G. Monti E, et al. Among authors: ballabio a. Genomics. 1999 Apr 1;57(1):137-43. doi: 10.1006/geno.1999.5749. Genomics. 1999. PMID: 10191093

10

Evidence for genetic heterogeneity in benign familial hematuria.

Piccini M, Casari G, Zhou J, Bruttini M, Volti SL, Ballabio A, Renieri A. Piccini M, et al. Among authors: ballabio a. Am J Nephrol. 1999;19(4):464-7. doi: 10.1159/000013499. Am J Nephrol. 1999. PMID: 10460935

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

472 results

Search Page

Filters