Ballabio A - Search Results

1

Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2.

Guerrini R, Bonanni P, Nardocci N, Parmeggiani L, Piccirilli M, De Fusco M, Aridon P, Ballabio A, Carrozzo R, Casari G. Guerrini R, et al. Among authors: ballabio a. Ann Neurol. 1999 Mar;45(3):344-52. doi: 10.1002/1531-8249(199903)45:3<344::aid-ana10>3.0.co;2-9. Ann Neurol. 1999. PMID: 10072049

2

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

3

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

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

Molecular characterization of human X/Y translocations suggests their aetiology through aberrant exchange between homologous sequences on Xp and Yq.

Ballabio A, Carrozzo R, Gil A, Gillard B, Affara N, Ferguson-Smith MA, Fraser N, Craig I, Rocchi M, Romeo G. Ballabio A, et al. Ann Hum Genet. 1989 Jan;53(1):9-14. doi: 10.1111/j.1469-1809.1989.tb01117.x. Ann Hum Genet. 1989. PMID: 2729897

7

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

8

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

9

The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28.

Auricchio A, Brancolini V, Casari G, Milla PJ, Smith VV, Devoto M, Ballabio A. Auricchio A, et al. Among authors: ballabio a. Am J Hum Genet. 1996 Apr;58(4):743-8. Am J Hum Genet. 1996. PMID: 8644737 Free PMC article.

10

Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3).

Mastroianni N, De Fusco M, Zollo M, Arrigo G, Zuffardi O, Bettinelli A, Ballabio A, Casari G. Mastroianni N, et al. Among authors: ballabio a. Genomics. 1996 Aug 1;35(3):486-93. doi: 10.1006/geno.1996.0388. Genomics. 1996. PMID: 8812482

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