Ceballos-Picot I - Search Results

1

Metabolic and neurobehavioral disturbances induced by purine recycling deficiency in Drosophila.

Petitgas C, Seugnet L, Dulac A, Matassi G, Mteyrek A, Fima R, Strehaiano M, Dagorret J, Chérif-Zahar B, Marie S, Ceballos-Picot I, Birman S. Petitgas C, et al. Among authors: ceballos picot i. Elife. 2024 May 3;12:RP88510. doi: 10.7554/eLife.88510. Elife. 2024. PMID: 38700995 Free PMC article.

2

Misleading behavioural phenotype with adenylosuccinate lyase deficiency.

Gitiaux C, Ceballos-Picot I, Marie S, Valayannopoulos V, Rio M, Verrieres S, Benoist JF, Vincent MF, Desguerre I, Bahi-Buisson N. Gitiaux C, et al. Eur J Hum Genet. 2009 Jan;17(1):133-6. doi: 10.1038/ejhg.2008.174. Epub 2008 Oct 1. Eur J Hum Genet. 2009. PMID: 18830228 Free PMC article.

3

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

4

A comprehensive characterization of the impact of mycophenolic acid on the metabolism of Jurkat T cells.

Fernández-Ramos AA, Marchetti-Laurent C, Poindessous V, Antonio S, Petitgas C, Ceballos-Picot I, Laurent-Puig P, Bortoli S, Loriot MA, Pallet N. Fernández-Ramos AA, et al. Sci Rep. 2017 Sep 5;7(1):10550. doi: 10.1038/s41598-017-10338-6. Sci Rep. 2017. PMID: 28874730 Free PMC article.

5

Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency.

Madeo A, Di Rocco M, Brassier A, Bahi-Buisson N, De Lonlay P, Ceballos-Picot I. Madeo A, et al. Among authors: ceballos picot i. Mol Genet Metab. 2019 Jun;127(2):147-157. doi: 10.1016/j.ymgme.2019.06.001. Epub 2019 Jun 3. Mol Genet Metab. 2019. PMID: 31182398

6

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

7

Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients.

Edery P, Chabrier S, Ceballos-Picot I, Marie S, Vincent MF, Tardieu M. Edery P, et al. Am J Med Genet A. 2003 Jul 15;120A(2):185-90. doi: 10.1002/ajmg.a.20176. Am J Med Genet A. 2003. PMID: 12833398

8

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.

9

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.

10

New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.

Ceballos-Picot I, Le Dantec A, Brassier A, Jaïs JP, Ledroit M, Cahu J, Ea HK, Daignan-Fornier B, Pinson B. Ceballos-Picot I, et al. Orphanet J Rare Dis. 2015 Jan 23;10:7. doi: 10.1186/s13023-014-0219-0. Orphanet J Rare Dis. 2015. PMID: 25612837 Free PMC article.

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