| 1 | HPSE2, UFS
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| First HPSE2 missense mutation in urofacial syndrome.
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| Mahmood S, Beetz C, Tahir MM, Imran M, Mumtaz R, Bassmann I, Jahic A, Malik M, Nürnberg G, Hassan SA, Rana S, Nürnberg P, Hübner CA.
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| Clin Genet 81(1):88-92. doi: 10.1111/j.1399-0004.2011.01649.x. Epub 2011 Mar 10.
2012
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| 2 | HPSE2, UFS
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| Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.
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| Pang J, Zhang S, Yang P, Hawkins-Lee B, Zhong J, Zhang Y, Ochoa B, Agundez JA, Voelckel MA, Gu W, Xiong WC, Mei L, She JX, Wang CY.
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| Am J Hum Genet 86(6):957-62.PMID: 20560209 2010
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| 3 | HPSE2, UFS
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| Mutations in HPSE2 cause urofacial syndrome.
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| Daly SB, Urquhart JE, Hilton E, McKenzie EA, Kammerer RA, Lewis M, Kerr B, Stuart H, Donnai D, Long DA, Burgu B, Aydogdu O, Derbent M, Garcia-Minaur S, Reardon W, Gener B, Shalev S, Smith R, Woolf AS, Black GC, Newman WG.
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| Am J Hum Genet 86(6):963-9.PMID: 20560210 2010
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| 4 | CNNM1, GOT1, UFS
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| High resolution mapping and mutation analyses of candidate genes in the urofacial syndrome (UFS) critical region.
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| Wang CY, Davoodi-Semiromi A, Shi JD, Yang P, Huang YQ, Agundez JA, Moran JM, Ochoa B, Hawkins-Lee B, She JX.
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| Am J Med Genet A 119A(1):9-14.PMID: 12707951 2003
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| 5 | UFS
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| Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new french family.
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| Chauve X, Missirian C, Malzac P, Girardot L, Guys JM, Louis C, Philip N, Voelckel MA.
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| Am J Med Genet 95(1):10-2. 2000
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| 6 | GOT1, UFS
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| Genetic homogeneity, high-resolution mapping, and mutation analysis of the urofacial (Ochoa) syndrome and exclusion of the glutamate oxaloacetate transaminase gene (GOT1) in the critical region as the disease gene.
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| Wang CY, et al.
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| Am J Med Genet 84(5):454-9. 1999
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| 7 | UFS
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| Construction of a physical and transcript map for a 1-Mb genomic region containing the urofacial (Ochoa) syndrome gene on 10q23-q24 and localization of the disease gene within two overlapping BAC clones.
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| Wang CY, et al.
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| Genomics 60(1):12-9. 1999
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| 8 | D10S185, D10S192, IOSCA, UFS
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| A refined physical and EST map spanning 7.4 Mb of 10q24, a region involved in neurological disorders.
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| Nobile C, et al.
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| Mamm Genome 9 : 835-837. 1998
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| 9 | UFS
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| Homozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24.
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| Wang CY, Hawkins-Lee B, Ochoa B, Walker RD, She JX.
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| Am J Hum Genet 60(6):1461-7. 1997
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