Delague V - Search Results

1

Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype.

Chikhaoui A, Elouej S, Nabouli I, Jones M, Lagarde A, Ben Rekaya M, Messaoud O, Hamdi Y, Zghal M, Delague V, Levy N, De Sandre-Giovannoli A, Abdelhak S, Yacoub-Youssef H. Chikhaoui A, et al. Among authors: delague v. Front Genet. 2019 Feb 14;10:111. doi: 10.3389/fgene.2019.00111. eCollection 2019. Front Genet. 2019. PMID: 30838033 Free PMC article.

2

Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations.

De Sandre-Giovannoli A, Chaouch M, Boccaccio I, Bernard R, Delague V, Grid D, Vallat JM, Lévy N, Mégarbané A. De Sandre-Giovannoli A, et al. Among authors: delague v. J Med Genet. 2003 Jul;40(7):e87. doi: 10.1136/jmg.40.7.e87. J Med Genet. 2003. PMID: 12843336 Free PMC article. No abstract available.

3

Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.

Bernard R, De Sandre-Giovannoli A, Delague V, Lévy N. Bernard R, et al. Among authors: delague v. Neuromolecular Med. 2006;8(1-2):87-106. doi: 10.1385/nmm:8:1-2:87. Neuromolecular Med. 2006. PMID: 16775369 Review.

4

Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H.

Delague V, Jacquier A, Hamadouche T, Poitelon Y, Baudot C, Boccaccio I, Chouery E, Chaouch M, Kassouri N, Jabbour R, Grid D, Mégarbané A, Haase G, Lévy N. Delague V, et al. Am J Hum Genet. 2007 Jul;81(1):1-16. doi: 10.1086/518428. Epub 2007 May 15. Am J Hum Genet. 2007. PMID: 17564959 Free PMC article.

5

Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa.

Hamadouche T, Poitelon Y, Genin E, Chaouch M, Tazir M, Kassouri N, Nouioua S, Chaouch A, Boccaccio I, Benhassine T, De Sandre-Giovannoli A, Grid D, Lévy N, Delague V. Hamadouche T, et al. Among authors: delague v. Ann Hum Genet. 2008 Sep;72(Pt 5):590-7. doi: 10.1111/j.1469-1809.2008.00456.x. Epub 2008 Jun 6. Ann Hum Genet. 2008. PMID: 18549403

6

CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592.

Nicolas E, Poitelon Y, Chouery E, Salem N, Levy N, Mégarbané A, Delague V. Nicolas E, et al. Among authors: delague v. Eur J Hum Genet. 2010 Oct;18(10):1107-13. doi: 10.1038/ejhg.2010.82. Epub 2010 Jun 9. Eur J Hum Genet. 2010. PMID: 20531441 Free PMC article.

7

A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22.

Chouery E, Delague V, Jalkh N, Salem N, Kfoury J, Rodriguez D, Chabrol B, Boespflug-Tanguy O, Lévy N, Serre JL, Mégarbané A. Chouery E, et al. Among authors: delague v. Neurogenetics. 2011 Feb;12(1):73-8. doi: 10.1007/s10048-010-0256-3. Epub 2010 Aug 19. Neurogenetics. 2011. PMID: 20721593

8

Behavioral and molecular exploration of the AR-CMT2A mouse model Lmna (R298C/R298C).

Poitelon Y, Kozlov S, Devaux J, Vallat JM, Jamon M, Roubertoux P, Rabarimeriarijaona S, Baudot C, Hamadouche T, Stewart CL, Levy N, Delague V. Poitelon Y, et al. Among authors: delague v. Neuromolecular Med. 2012 Mar;14(1):40-52. doi: 10.1007/s12017-012-8168-z. Epub 2012 Feb 14. Neuromolecular Med. 2012. PMID: 22331516

9

Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H).

Baudot C, Esteve C, Castro C, Poitelon Y, Mas C, Hamadouche T, El-Rajab M, Lévy N, Megarbané A, Delague V. Baudot C, et al. Among authors: delague v. J Peripher Nerv Syst. 2012 Jun;17(2):141-6. doi: 10.1111/j.1529-8027.2012.00405.x. J Peripher Nerv Syst. 2012. PMID: 22734899

10

A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family.

Boubaker C, Hsairi-Guidara I, Castro C, Ayadi I, Boyer A, Kerkeni E, Courageot J, Abid I, Bernard R, Bonello-Palot N, Kamoun F, Cheikh HB, Lévy N, Triki C, Delague V. Boubaker C, et al. Among authors: delague v. Ann Hum Genet. 2013 Jul;77(4):336-43. doi: 10.1111/ahg.12017. Epub 2013 Apr 2. Ann Hum Genet. 2013. PMID: 23550889

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