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Mutation analysis of GABRR1 and GABRR2 in autosomal recessive retinitis pigmentosa.
PMID: 10851258 [PubMed - indexed for MEDLINE]
PMCID: PMC1734609
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Cited by 3 PubMed Central articles
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Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.
Collin RW, Littink KW, Klevering BJ, van den Born LI, Koenekoop RK, Zonneveld MN, Blokland EA, Strom TM, Hoyng CB, den Hollander AI, et al.
Am J Hum Genet. 2008 Nov; 83(5):594-603. Epub 2008 Oct 30.
[Am J Hum Genet. 2008]
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Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval.
Abd El-Aziz MM, Barragan I, O'Driscoll C, Borrego S, Abu-Safieh L, Pieras JI, El-Ashry MF, Prigmore E, Carter N, Antinolo G, et al.
Ann Hum Genet. 2008 Jul; 72(Pt 4):463-77. Epub 2007 May 29.
[Ann Hum Genet. 2008]
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A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma.
Borrego S, Wright FA, Fernández RM, Williams N, López-Alonso M, Davuluri R, Antiñolo G, Eng C.
Am J Hum Genet. 2003 Jan; 72(1):88-100. Epub 2002 Dec 9.
[Am J Hum Genet. 2003]