Ballabio A - Search Results

1

The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells.

Palmisano I, Bagnato P, Palmigiano A, Innamorati G, Rotondo G, Altimare D, Venturi C, Sviderskaya EV, Piccirillo R, Coppola M, Marigo V, Incerti B, Ballabio A, Surace EM, Tacchetti C, Bennett DC, Schiaffino MV. Palmisano I, et al. Among authors: ballabio a. Hum Mol Genet. 2008 Nov 15;17(22):3487-501. doi: 10.1093/hmg/ddn241. Epub 2008 Aug 12. Hum Mol Genet. 2008. PMID: 18697795 Free PMC article.

2

Kallmann syndrome due to a translocation resulting in an X/Y fusion gene.

Guioli S, Incerti B, Zanaria E, Bardoni B, Franco B, Taylor K, Ballabio A, Camerino G. Guioli S, et al. Among authors: ballabio a. Nat Genet. 1992 Aug;1(5):337-40. doi: 10.1038/ng0892-337. Nat Genet. 1992. PMID: 1302031

3

Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome.

Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AA, Lewis RA, Ballabio A. Bassi MT, et al. Among authors: ballabio a. Nat Genet. 1995 May;10(1):13-9. doi: 10.1038/ng0595-13. Nat Genet. 1995. PMID: 7647783

4

Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region.

Schiaffino MV, Bassi MT, Rugarli EI, Renieri A, Galli L, Ballabio A. Schiaffino MV, et al. Among authors: ballabio a. Hum Mol Genet. 1995 Mar;4(3):373-82. doi: 10.1093/hmg/4.3.373. Hum Mol Genet. 1995. PMID: 7795590

5

A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22.

Wapenaar MC, Schiaffino MV, Bassi MT, Schaefer L, Chinault AC, Zoghbi HY, Ballabio A. Wapenaar MC, et al. Among authors: ballabio a. Hum Mol Genet. 1994 Jul;3(7):1155-61. doi: 10.1093/hmg/3.7.1155. Hum Mol Genet. 1994. PMID: 7981686

6

A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1).

Bassi MT, Bergen AA, Wapenaar MC, Schiaffino MV, van Schooneveld M, Yates JR, Charles SJ, Meitinger T, Ballabio A. Bassi MT, et al. Among authors: ballabio a. Hum Mol Genet. 1994 Apr;3(4):647-8. doi: 10.1093/hmg/3.4.647. Hum Mol Genet. 1994. PMID: 8069311 No abstract available.

7

The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes.

Schiaffino MV, Baschirotto C, Pellegrini G, Montalti S, Tacchetti C, De Luca M, Ballabio A. Schiaffino MV, et al. Among authors: ballabio a. Proc Natl Acad Sci U S A. 1996 Aug 20;93(17):9055-60. doi: 10.1073/pnas.93.17.9055. Proc Natl Acad Sci U S A. 1996. PMID: 8799153 Free PMC article.

8

Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population.

Auricchio A, Casari G, Staiano A, Ballabio A. Auricchio A, et al. Among authors: ballabio a. Hum Mol Genet. 1996 Mar;5(3):351-4. doi: 10.1093/hmg/5.3.351. Hum Mol Genet. 1996. PMID: 8852659

9

Cloning of the murine homolog of the ocular albinism type 1 (OA1) gene: sequence, genomic structure, and expression analysis in pigment cells.

Bassi MT, Incerti B, Easty DJ, Sviderskaya EV, Ballabio A. Bassi MT, et al. Among authors: ballabio a. Genome Res. 1996 Sep;6(9):880-5. doi: 10.1101/gr.6.9.880. Genome Res. 1996. PMID: 8889556 Free article.

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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