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UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.
Turner JJ, Stacey JM, Harding B, Kotanko P, Lhotta K, Puig JG, Roberts I, Torres RJ, Thakker RV. Turner JJ, et al. Among authors: puig jg. J Clin Endocrinol Metab. 2003 Mar;88(3):1398-401. doi: 10.1210/jc.2002-021973. J Clin Endocrinol Metab. 2003. PMID: 12629136
Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes.
Stibůrková B, Majewski J, Hodanová K, Ondrová L, Jerábková M, Zikánová M, Vylet'al P, Sebesta I, Marinaki A, Simmonds A, Matthijs G, Fryns JP, Torres R, Puig JG, Ott J, Kmoch S. Stibůrková B, et al. Among authors: puig jg. Eur J Hum Genet. 2003 Feb;11(2):145-54. doi: 10.1038/sj.ejhg.5200937. Eur J Hum Genet. 2003. PMID: 12634862
Clinical utility gene card for: Lesch-Nyhan syndrome--update 2013.
Torres RJ, Puig JG, Ceballos-Picot I. Torres RJ, et al. Among authors: puig jg. Eur J Hum Genet. 2013 Oct;21(10). doi: 10.1038/ejhg.2012.304. Epub 2013 Jan 16. Eur J Hum Genet. 2013. PMID: 23321622 Free PMC article. No abstract available.
Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants.
Sampat R, Fu R, Larovere LE, Torres RJ, Ceballos-Picot I, Fischbach M, de Kremer R, Schretlen DJ, Puig JG, Jinnah HA. Sampat R, et al. Among authors: puig jg. Hum Genet. 2011 Jan;129(1):71-8. doi: 10.1007/s00439-010-0901-9. Epub 2010 Oct 28. Hum Genet. 2011. PMID: 20981450 Free PMC article.
184 results