Ballabio A - Search Results

1

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

Di Fruscio G, Schulz A, De Cegli R, Savarese M, Mutarelli M, Parenti G, Banfi S, Braulke T, Nigro V, Ballabio A. Di Fruscio G, et al. Among authors: ballabio a. Autophagy. 2015;11(6):928-38. doi: 10.1080/15548627.2015.1043077. Autophagy. 2015. PMID: 26075876 Free PMC article.

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

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.

4

Studies on cross-reacting material to steroid sulphatase in fibroblasts from patients affected by different types of steroid sulphatase deficiency.

Parenti G, Ballabio A, Hoogeveen AT, Van der Loos CM, Jobsis AC, Andria G. Parenti G, et al. Among authors: ballabio a. J Inherit Metab Dis. 1987;10(3):224-8. doi: 10.1007/BF01800065. J Inherit Metab Dis. 1987. PMID: 3123779

5

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

6

Ocular findings and skin histology in a group of patients with X-linked ichthyosis.

Piccirillo A, Auricchio L, Fabbrocini G, Parenti G, Ballabio A, Delfino M. Piccirillo A, et al. Among authors: ballabio a. Br J Dermatol. 1988 Aug;119(2):185-8. doi: 10.1111/j.1365-2133.1988.tb03200.x. Br J Dermatol. 1988. PMID: 3166940

7

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

8

Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene.

Parenti G, Rizzolo MG, Ghezzi M, Di Maio S, Sperandeo MP, Incerti B, Franco B, Ballabio A, Andria G. Parenti G, et al. Among authors: ballabio a. Am J Med Genet. 1995 Jul 3;57(3):476-8. doi: 10.1002/ajmg.1320570323. Am J Med Genet. 1995. PMID: 7677154

9

Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching.

Banfi S, Borsani G, Rossi E, Bernard L, Guffanti A, Rubboli F, Marchitiello A, Giglio S, Coluccia E, Zollo M, Zuffardi O, Ballabio A. Banfi S, et al. Among authors: ballabio a. Nat Genet. 1996 Jun;13(2):167-74. doi: 10.1038/ng0696-167. Nat Genet. 1996. PMID: 8640222

10

DRES search engine: of flies, men and ESTs.

Guffanti A, Banfi S, Simon G, Ballabio A, Borsani G. Guffanti A, et al. Among authors: ballabio a. Trends Genet. 1997 Feb;13(2):79-80. doi: 10.1016/s0168-9525(97)01015-9. Trends Genet. 1997. PMID: 9055610 No abstract available.

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