Devys D - Search Results

1

Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development.

Devys D, Biancalana V, Rousseau F, Boué J, Mandel JL, Oberlé I. Devys D, et al. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):208-16. doi: 10.1002/ajmg.1320430134. Am J Med Genet. 1992. PMID: 1605193

2

Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation.

Heitz D, Devys D, Imbert G, Kretz C, Mandel JL. Heitz D, et al. Among authors: devys d. J Med Genet. 1992 Nov;29(11):794-801. doi: 10.1136/jmg.29.11.794. J Med Genet. 1992. PMID: 1453430 Free PMC article.

3

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome.

Oberlé I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, Boué J, Bertheas MF, Mandel JL. Oberlé I, et al. Among authors: devys d. Science. 1991 May 24;252(5009):1097-102. doi: 10.1126/science.252.5009.1097. Science. 1991. PMID: 2031184

4

The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation.

Devys D, Lutz Y, Rouyer N, Bellocq JP, Mandel JL. Devys D, et al. Nat Genet. 1993 Aug;4(4):335-40. doi: 10.1038/ng0893-335. Nat Genet. 1993. PMID: 8401578

5

ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.

Cossée M, Faivre L, Philippe C, Hichri H, de Saint-Martin A, Laugel V, Bahi-Buisson N, Lemaitre JF, Leheup B, Delobel B, Demeer B, Poirier K, Biancalana V, Pinoit JM, Julia S, Chelly J, Devys D, Mandel JL. Cossée M, et al. Among authors: devys d. Am J Med Genet A. 2011 Jan;155A(1):98-105. doi: 10.1002/ajmg.a.33785. Am J Med Genet A. 2011. PMID: 21204215

6

Microsatellites and disease: a new paradigm.

Wrogemann K, Biancalana V, Devys D, Imbert G, Trottier Y, Mandel JL. Wrogemann K, et al. Among authors: devys d. EXS. 1993;67:141-52. doi: 10.1007/978-3-0348-8583-6_13. EXS. 1993. PMID: 8400686 Review. No abstract available.

7

Alternative splicing of exon 14 determines nuclear or cytoplasmic localisation of fmr1 protein isoforms.

Sittler A, Devys D, Weber C, Mandel JL. Sittler A, et al. Among authors: devys d. Hum Mol Genet. 1996 Jan;5(1):95-102. doi: 10.1093/hmg/5.1.95. Hum Mol Genet. 1996. PMID: 8789445

8

Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island.

Heitz D, Rousseau F, Devys D, Saccone S, Abderrahim H, Le Paslier D, Cohen D, Vincent A, Toniolo D, Della Valle G, et al. Heitz D, et al. Among authors: devys d. Science. 1991 Mar 8;251(4998):1236-9. doi: 10.1126/science.2006411. Science. 1991. PMID: 2006411

9

[Mental retardation in fragile X syndrome].

Mandel JL, Biancalana V, Cossée M, Devys D, Moutou C. Mandel JL, et al. Among authors: devys d. Arch Pediatr. 1996;3 Suppl 1:349s-350s. doi: 10.1016/0929-693x(96)86101-x. Arch Pediatr. 1996. PMID: 8796076 French. No abstract available.

10

SCA7 mouse models show selective stabilization of mutant ataxin-7 and similar cellular responses in different neuronal cell types.

Yvert G, Lindenberg KS, Devys D, Helmlinger D, Landwehrmeyer GB, Mandel JL. Yvert G, et al. Among authors: devys d. Hum Mol Genet. 2001 Aug 1;10(16):1679-92. doi: 10.1093/hmg/10.16.1679. Hum Mol Genet. 2001. PMID: 11487572

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