Ballabio A - Search Results

1

A gene network regulating lysosomal biogenesis and function.

Sardiello M, Palmieri M, di Ronza A, Medina DL, Valenza M, Gennarino VA, Di Malta C, Donaudy F, Embrione V, Polishchuk RS, Banfi S, Parenti G, Cattaneo E, Ballabio A. Sardiello M, et al. Among authors: ballabio a. Science. 2009 Jul 24;325(5939):473-7. doi: 10.1126/science.1174447. Epub 2009 Jun 25. Science. 2009. PMID: 19556463

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

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

4

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

5

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

6

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

7

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

8

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.

9

The sulfatase gene family.

Parenti G, Meroni G, Ballabio A. Parenti G, et al. Among authors: ballabio a. Curr Opin Genet Dev. 1997 Jun;7(3):386-91. doi: 10.1016/s0959-437x(97)80153-0. Curr Opin Genet Dev. 1997. PMID: 9229115 Review.

10

Drosophila-related expressed sequences.

Banfi S, Borsani G, Bulfone A, Ballabio A. Banfi S, et al. Among authors: ballabio a. Hum Mol Genet. 1997;6(10):1745-53. doi: 10.1093/hmg/6.10.1745. Hum Mol Genet. 1997. PMID: 9300667 Review.

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