Ballabio A - Search Results

1

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

2

X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene.

Ballabio A, Parenti G, Carrozzo R, Coppa G, Felici L, Migliori V, Silengo M, Franceschini P, Andria G. Ballabio A, et al. Clin Genet. 1988 Jul;34(1):31-7. doi: 10.1111/j.1399-0004.1988.tb02612.x. Clin Genet. 1988. PMID: 3165728

3

Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification.

Ballabio A, Ranier JE, Chamberlain JS, Zollo M, Caskey CT. Ballabio A, et al. Hum Genet. 1990 May;84(6):571-3. doi: 10.1007/BF00210812. Hum Genet. 1990. PMID: 2338343 Free article.

4

Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.

Ballabio A, Bardoni B, Carrozzo R, Andria G, Bick D, Campbell L, Hamel B, Ferguson-Smith MA, Gimelli G, Fraccaro M, et al. Ballabio A, et al. Proc Natl Acad Sci U S A. 1989 Dec;86(24):10001-5. doi: 10.1073/pnas.86.24.10001. Proc Natl Acad Sci U S A. 1989. PMID: 2602357 Free PMC article.

5

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.

6

Deletions of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome.

Ballabio A, Sebastio G, Carrozzo R, Parenti G, Piccirillo A, Persico MG, Andria G. Ballabio A, et al. Hum Genet. 1987 Dec;77(4):338-41. doi: 10.1007/BF00291422. Hum Genet. 1987. PMID: 3480263

7

Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases.

Morleo M, Pramparo T, Perone L, Gregato G, Le Caignec C, Mueller RF, Ogata T, Raas-Rothschild A, de Blois MC, Wilson LC, Zaidman G, Zuffardi O, Ballabio A, Franco B. Morleo M, et al. Among authors: ballabio a. Am J Med Genet A. 2005 Aug 30;137(2):190-8. doi: 10.1002/ajmg.a.30864. Am J Med Genet A. 2005. PMID: 16059943

8

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.

9

Sequence analysis of a partial deletion of the human steroid sulfatase gene reveals 3 bp of homology at deletion breakpoints.

Bernatowicz LF, Li XM, Carrozzo R, Ballabio A, Mohandas T, Yen PH, Shapiro LJ. Bernatowicz LF, et al. Among authors: ballabio a. Genomics. 1992 Jul;13(3):892-3. doi: 10.1016/0888-7543(92)90179-v. Genomics. 1992. PMID: 1639422

10

Microtia with meatal atresia and conductive deafness: mild and severe manifestations within the same sibship.

Strisciuglio P, Ballabio A, Parenti G. Strisciuglio P, et al. Among authors: ballabio a. J Med Genet. 1986 Oct;23(5):459-60. doi: 10.1136/jmg.23.5.459. J Med Genet. 1986. PMID: 3783624 Free PMC article.

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