Ceballos-Picot I - Search Results

1

Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient.

Aral B, de Saint Basile G, Al-Garawi S, Kamoun P, Ceballos-Picot I. Aral B, et al. Hum Mutat. 1996;7(1):52-8. doi: 10.1002/(SICI)1098-1004(1996)7:1<52::AID-HUMU7>3.0.CO;2-R. Hum Mutat. 1996. PMID: 8664901

2

2,8-Dihydroxyadenine urolithiasis, an underdiagnosed disease.

Ceballos-Picot I, Perignon JL, Hamet M, Daudon M, Kamoun P. Ceballos-Picot I, et al. Lancet. 1992 Apr 25;339(8800):1050-1. Lancet. 1992. PMID: 1349069 No abstract available.

3

The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations.

Liu G, Aral B, Zabot MT, Kamoun P, Ceballos-Picot I. Liu G, et al. Hum Mutat. 1998;Suppl 1:S88-90. doi: 10.1002/humu.1380110130. Hum Mutat. 1998. PMID: 9452051 No abstract available.

4

Kelley-Seegmiller syndrome due to a new variant of the hypoxanthine-guanine phosphoribosyltransferase (I136T) encoding gene (HPRT Marseille).

Dussol B, Ceballos-Picot I, Aral B, Castera V, Philip N, Berland Y. Dussol B, et al. J Inherit Metab Dis. 2004;27(4):543-5. doi: 10.1023/b:boli.0000037399.72152.a9. J Inherit Metab Dis. 2004. PMID: 15334740

5

A human neuronal tissue culture model for Lesch-Nyhan disease.

Shirley TL, Lewers JC, Egami K, Majumdar A, Kelly M, Ceballos-Picot I, Seidman MM, Jinnah HA. Shirley TL, et al. J Neurochem. 2007 May;101(3):841-53. doi: 10.1111/j.1471-4159.2007.04472.x. J Neurochem. 2007. PMID: 17448149 Free article.

6

Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis.

Ceballos-Picot I, Mockel L, Potier MC, Dauphinot L, Shirley TL, Torero-Ibad R, Fuchs J, Jinnah HA. Ceballos-Picot I, et al. Hum Mol Genet. 2009 Jul 1;18(13):2317-27. doi: 10.1093/hmg/ddp164. Epub 2009 Apr 2. Hum Mol Genet. 2009. PMID: 19342420 Free PMC article.

7

Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase.

Ea HK, Bardin T, Jinnah HA, Aral B, Lioté F, Ceballos-Picot I. Ea HK, et al. Arthritis Rheum. 2009 Jul;60(7):2201-4. doi: 10.1002/art.24617. Arthritis Rheum. 2009. PMID: 19565499 Free PMC article.

8

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. 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.

9

Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferase.

Ceballos-Picot I, Augé F, Fu R, Olivier-Bandini A, Cahu J, Chabrol B, Aral B, de Martinville B, Lecain JP, Jinnah HA. Ceballos-Picot I, et al. Mol Genet Metab. 2013 Nov;110(3):268-74. doi: 10.1016/j.ymgme.2013.08.016. Epub 2013 Sep 8. Mol Genet Metab. 2013. PMID: 24075303 Free PMC article.

10

Lesch Nyhan syndrome: a novel complex mutation in a Tunisian child.

Rebai I, Kraoua I, Benrhouma H, Rouissi A, Turki I, Ceballos-Picot I, Gouider-Khouja N. Rebai I, et al. Brain Dev. 2014 Nov;36(10):921-3. doi: 10.1016/j.braindev.2014.01.006. Epub 2014 Feb 3. Brain Dev. 2014. PMID: 24503445

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