Ballabio A - Search Results

1

Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance.

Sperandeo MP, Annunziata P, Bozzato A, Piccolo P, Maiuri L, D'Armiento M, Ballabio A, Corso G, Andria G, Borsani G, Sebastio G. Sperandeo MP, et al. Among authors: ballabio a. Am J Physiol Cell Physiol. 2007 Jul;293(1):C191-8. doi: 10.1152/ajpcell.00583.2006. Epub 2007 Mar 21. Am J Physiol Cell Physiol. 2007. PMID: 17376816 Free article.

2

Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses.

Ballabio A, Andria G. Ballabio A, et al. Hum Mol Genet. 1992 Jul;1(4):221-7. doi: 10.1093/hmg/1.4.221. Hum Mol Genet. 1992. PMID: 1303191 Review.

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

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

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

Characterization of a human and murine gene (CLCN3) sharing similarities to voltage-gated chloride channels and to a yeast integral membrane protein.

Borsani G, Rugarli EI, Taglialatela M, Wong C, Ballabio A. Borsani G, et al. Among authors: ballabio a. Genomics. 1995 May 1;27(1):131-41. doi: 10.1006/geno.1995.1015. Genomics. 1995. PMID: 7665160

7

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

8

Genetic and physical mapping of a voltage-dependent chloride channel gene to human 4q32 and to mouse 8.

Mills KA, Mathews KD, Scherpbier-Heddema T, Buetow KH, Baldini A, Ballabio A, Borsani G. Mills KA, et al. Among authors: ballabio a. Genomics. 1996 Sep 1;36(2):374-6. doi: 10.1006/geno.1996.0480. Genomics. 1996. PMID: 8812471 No abstract available.

9

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.

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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