Ballabio A - Search Results

1

Correction of steroid sulfatase deficiency by gene transfer into basal cells of tissue-cultured epidermis from patients with recessive X-linked ichthyosis.

Jensen TG, Jensen UB, Jensen PK, Ibsen HH, Brandrup F, Ballabio A, Bolund L. Jensen TG, et al. Among authors: ballabio a. Exp Cell Res. 1993 Dec;209(2):392-7. doi: 10.1006/excr.1993.1326. Exp Cell Res. 1993. PMID: 8262159

2

Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis.

Basler E, Grompe M, Parenti G, Yates J, Ballabio A. Basler E, et al. Among authors: ballabio a. Am J Hum Genet. 1992 Mar;50(3):483-91. Am J Hum Genet. 1992. PMID: 1539590 Free PMC article.

3

A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy.

Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, Cox L, Maroteaux P, Sheffield L, Rappold GA, Andria G, Petit C, Ballabio A. Franco B, et al. Among authors: ballabio a. Cell. 1995 Apr 7;81(1):15-25. doi: 10.1016/0092-8674(95)90367-4. Cell. 1995. PMID: 7720070 Free article.

4

Characterization of the deletion breakpoints in a patient with steroid sulfatase deficiency.

Yen PH, Ferrero GB, Chinault AC, Mohandas T, Ballabio A. Yen PH, et al. Among authors: ballabio a. Hum Mutat. 1994;4(1):76-8. doi: 10.1002/humu.1380040114. Hum Mutat. 1994. PMID: 7951263 No abstract available.

5

The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.

Cosma MP, Pepe S, Annunziata I, Newbold RF, Grompe M, Parenti G, Ballabio A. Cosma MP, et al. Among authors: ballabio a. Cell. 2003 May 16;113(4):445-56. doi: 10.1016/s0092-8674(03)00348-9. Cell. 2003. PMID: 12757706 Free article.

6

Isolation and characterization of a yeast artificial chromosome (YAC) contig around the human steroid sulfatase gene.

Carrozzo R, Ellison J, Yen P, Taillon-Miller P, Brownstein BH, Persico G, Ballabio A, Shapiro L. Carrozzo R, et al. Among authors: ballabio a. Genomics. 1992 Jan;12(1):7-12. doi: 10.1016/0888-7543(92)90399-d. Genomics. 1992. PMID: 1733866

7

Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency.

Ballabio A, Zollo M, Carrozzo R, Caiulo A, Zuffardi O, Cascioli CF, Viggiano D, Strisciuglio P. Ballabio A, et al. Am J Med Genet. 1991 Nov 1;41(2):184-7. doi: 10.1002/ajmg.1320410210. Am J Med Genet. 1991. PMID: 1785631

8

Long-range physical mapping around the human steroid sulfatase locus.

Ross MT, Ballabio A, Craig IW. Ross MT, et al. Among authors: ballabio a. Genomics. 1990 Mar;6(3):528-39. doi: 10.1016/0888-7543(90)90482-a. Genomics. 1990. PMID: 2328992

9

Molecular heterogeneity of steroid sulfatase deficiency: a multicenter study on 57 unrelated patients, at DNA and protein levels.

Ballabio A, Carrozzo R, Parenti G, Gil A, Zollo M, Persico MG, Gillard E, Affara N, Yates J, Ferguson-Smith MA, et al. Ballabio A, et al. Genomics. 1989 Jan;4(1):36-40. doi: 10.1016/0888-7543(89)90311-x. Genomics. 1989. PMID: 2644167 Clinical Trial.

10

Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis.

Ballabio A, Parenti G, Carrozzo R, Sebastio G, Andria G, Buckle V, Fraser N, Craig I, Rocchi M, Romeo G, et al. Ballabio A, et al. Proc Natl Acad Sci U S A. 1987 Jul;84(13):4519-23. doi: 10.1073/pnas.84.13.4519. Proc Natl Acad Sci U S A. 1987. PMID: 3474618 Free PMC article.

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