Marie S - Search Results

1

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. Among authors: marie s. 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

2

Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.

Marie S, Cuppens H, Heuterspreute M, Jaspers M, Tola EZ, Gu XX, Legius E, Vincent MF, Jaeken J, Cassiman JJ, Van den Berghe G. Marie S, et al. Hum Mutat. 1999;13(3):197-202. doi: 10.1002/(SICI)1098-1004(1999)13:3<197::AID-HUMU3>3.0.CO;2-D. Hum Mutat. 1999. PMID: 10090474

3

Prenatal diagnosis in adenylosuccinate lyase deficiency.

Marie S, Flipsen JW, Duran M, Poll-The BT, Beemer FA, Bosschaart AN, Vincent MF, Van den Berghe G. Marie S, et al. Prenat Diagn. 2000 Jan;20(1):33-6. doi: 10.1002/(sici)1097-0223(200001)20:1<33::aid-pd751>3.0.co;2-3. Prenat Diagn. 2000. PMID: 10701848

4

Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features.

Köhler M, Assmann B, Bräutigam C, Storm W, Marie S, Vincent MF, Van den Berghe G, Simmonds HA, Hoffmann GF. Köhler M, et al. Among authors: marie s. Eur J Paediatr Neurol. 1999;3(1):3-6. doi: 10.1053/ejpn.1999.0172. Eur J Paediatr Neurol. 1999. PMID: 10727185

5

Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.

Race V, Marie S, Vincent MF, Van den Berghe G. Race V, et al. Among authors: marie s. Hum Mol Genet. 2000 Sep 1;9(14):2159-65. doi: 10.1093/hmg/9.14.2159. Hum Mol Genet. 2000. PMID: 10958654

6

Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly.

Nassogne M, Henrot B, Aubert G, Bonnier C, Marie S, Saint-Martin C, Van den Berghe G, Sébire G, Vincent M. Nassogne M, et al. Among authors: marie s. Brain Dev. 2000 Sep;22(6):383-6. doi: 10.1016/s0387-7604(00)00154-6. Brain Dev. 2000. PMID: 11042421

7

Adenylosuccinate lyase deficiency: from the clinics to molecular biology.

Marie S, Race V, Vincent MF, Van den Berghe G. Marie S, et al. Adv Exp Med Biol. 2000;486:79-82. doi: 10.1007/0-306-46843-3_15. Adv Exp Med Biol. 2000. PMID: 11783532 No abstract available.

8

Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?

Holder-Espinasse M, Marie S, Bourrouillou G, Ceballos-Picot I, Nassogne MC, Faivre L, Amiel J, Munnich A, Vincent MF, Cormier-Daire V. Holder-Espinasse M, et al. Among authors: marie s. J Med Genet. 2002 Jun;39(6):440-2. doi: 10.1136/jmg.39.6.440. J Med Genet. 2002. PMID: 12070256 Free PMC article. No abstract available.

9

AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC.

Marie S, Heron B, Bitoun P, Timmerman T, Van Den Berghe G, Vincent MF. Marie S, et al. Am J Hum Genet. 2004 Jun;74(6):1276-81. doi: 10.1086/421475. Epub 2004 Apr 26. Am J Hum Genet. 2004. PMID: 15114530 Free PMC article.

10

Adenylosuccinate lyase deficiency: study of physiopathologic mechanism(s).

Race V, Marie S, Kienlen-Campard P, Hermans E, Octave JN, Van den Berghe G, Vincent MF. Race V, et al. Among authors: marie s. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1227-9. doi: 10.1081/NCN-200027491. Nucleosides Nucleotides Nucleic Acids. 2004. PMID: 15571234

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