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Attenuated variants of Lesch-Nyhan disease.
Jinnah HA, Ceballos-Picot I, Torres RJ, Visser JE, Schretlen DJ, Verdu A, Laróvere LE, Chen CJ, Cossu A, Wu CH, Sampat R, Chang SJ, de Kremer RD, Nyhan W, Harris JC, Reich SG, Puig JG; Lesch-Nyhan Disease International Study Group. Jinnah HA, et al. Among authors: puig jg. Brain. 2010 Mar;133(Pt 3):671-89. doi: 10.1093/brain/awq013. Epub 2010 Feb 22. Brain. 2010. PMID: 20176575 Free PMC article. Review.
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.
Macrocytic anemia in Lesch-Nyhan disease and its variants.
Cakmakli HF, Torres RJ, Menendez A, Yalcin-Cakmakli G, Porter CC, Puig JG, Jinnah HA. Cakmakli HF, et al. Among authors: puig jg. Genet Med. 2019 Feb;21(2):353-360. doi: 10.1038/s41436-018-0053-1. Epub 2018 Jun 6. Genet Med. 2019. PMID: 29875418 Free PMC article.
Delineation of the motor disorder of Lesch-Nyhan disease.
Jinnah HA, Visser JE, Harris JC, Verdu A, Larovere L, Ceballos-Picot I, Gonzalez-Alegre P, Neychev V, Torres RJ, Dulac O, Desguerre I, Schretlen DJ, Robey KL, Barabas G, Bloem BR, Nyhan W, De Kremer R, Eddey GE, Puig JG, Reich SG; Lesch-Nyhan Disease International Study Group. Jinnah HA, et al. Among authors: puig jg. Brain. 2006 May;129(Pt 5):1201-17. doi: 10.1093/brain/awl056. Epub 2006 Mar 20. Brain. 2006. PMID: 16549399 Free PMC article. Review.
Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.
Fu R, Ceballos-Picot I, Torres RJ, Larovere LE, Yamada Y, Nguyen KV, Hegde M, Visser JE, Schretlen DJ, Nyhan WL, Puig JG, O'Neill PJ, Jinnah HA; Lesch-Nyhan Disease International Study Group. Fu R, et al. Among authors: puig jg. Brain. 2014 May;137(Pt 5):1282-303. doi: 10.1093/brain/awt202. Epub 2013 Aug 22. Brain. 2014. PMID: 23975452 Free PMC article. Review.
Behavioral aspects of Lesch-Nyhan disease and its variants.
Schretlen DJ, Ward J, Meyer SM, Yun J, Puig JG, Nyhan WL, Jinnah HA, Harris JC. Schretlen DJ, et al. Among authors: puig jg. Dev Med Child Neurol. 2005 Oct;47(10):673-7. doi: 10.1017/S0012162205001374. Dev Med Child Neurol. 2005. PMID: 16174310 Free article.
Clinical utility gene card for: Lesch-Nyhan syndrome.
Torres RJ, Puig JG, Ceballos-Picot I. Torres RJ, et al. Among authors: puig jg. Eur J Hum Genet. 2011 Jan;19(1):preceeding 118-20. doi: 10.1038/ejhg.2010.109. Epub 2010 Jul 21. Eur J Hum Genet. 2011. PMID: 20648055 Free PMC article. No abstract available.
184 results