Delaunoy J - Search Results

1

Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.

Delaunoy J, Abidi F, Zeniou M, Jacquot S, Merienne K, Pannetier S, Schmitt M, Schwartz C, Hanauer A. Delaunoy J, et al. Hum Mutat. 2001 Feb;17(2):103-16. doi: 10.1002/1098-1004(200102)17:2<103::AID-HUMU2>3.0.CO;2-N. Hum Mutat. 2001. PMID: 11180593

2

Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.

Delaunoy JP, Dubos A, Marques Pereira P, Hanauer A. Delaunoy JP, et al. Clin Genet. 2006 Aug;70(2):161-6. doi: 10.1111/j.1399-0004.2006.00660.x. Clin Genet. 2006. PMID: 16879200

3

A female with Coffin-Lowry syndrome and "cataplexy".

Fryssira H, Kountoupi S, Delaunoy JP, Thomaidis L. Fryssira H, et al. Among authors: delaunoy jp. Genet Couns. 2002;13(4):405-9. Genet Couns. 2002. PMID: 12558110

4

Prenatal diagnosis in Coffin-Lowry syndrome demonstrates germinal mosaicism confirmed by mutation analysis.

Horn D, Delaunoy JP, Kunze J. Horn D, et al. Among authors: delaunoy jp. Prenat Diagn. 2001 Oct;21(10):881-4. Prenat Diagn. 2001. PMID: 11746134

5

Cardiomyopathy in Coffin-Lowry syndrome.

Facher JJ, Regier EJ, Jacobs GH, Siwik E, Delaunoy JP, Robin NH. Facher JJ, et al. Among authors: delaunoy jp. Am J Med Genet A. 2004 Jul 15;128A(2):176-8. doi: 10.1002/ajmg.a.30056. Am J Med Genet A. 2004. PMID: 15214012

6

A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome.

Senel S, Ceylaner S, Ceylaner G, Sahin AH, Andrieux J, Delaunoy JP. Senel S, et al. Among authors: delaunoy jp. Genet Couns. 2011;22(1):21-4. Genet Couns. 2011. PMID: 21614984

7

Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families.

Anheim M, Fleury MC, Franques J, Moreira MC, Delaunoy JP, Stoppa-Lyonnet D, Koenig M, Tranchant C. Anheim M, et al. Among authors: delaunoy jp. Arch Neurol. 2008 Jul;65(7):958-62. doi: 10.1001/archneur.65.7.958. Arch Neurol. 2008. PMID: 18625865

8

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.

Anheim M, Monga B, Fleury M, Charles P, Barbot C, Salih M, Delaunoy JP, Fritsch M, Arning L, Synofzik M, Schöls L, Sequeiros J, Goizet C, Marelli C, Le Ber I, Koht J, Gazulla J, De Bleecker J, Mukhtar M, Drouot N, Ali-Pacha L, Benhassine T, Chbicheb M, M'Zahem A, Hamri A, Chabrol B, Pouget J, Murphy R, Watanabe M, Coutinho P, Tazir M, Durr A, Brice A, Tranchant C, Koenig M. Anheim M, et al. Among authors: delaunoy jp. Brain. 2009 Oct;132(Pt 10):2688-98. doi: 10.1093/brain/awp211. Epub 2009 Aug 20. Brain. 2009. PMID: 19696032

9

Coffin-Lowry syndrome in a patient from the Cook Islands confirmed by the presence of a unique mutation.

McGaughran J, Delaunoy JP. McGaughran J, et al. Among authors: delaunoy jp. Am J Med Genet. 2002 Dec 1;113(3):309-11. doi: 10.1002/ajmg.10786. Am J Med Genet. 2002. PMID: 12439904 No abstract available.

10

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.

Anheim M, Fleury M, Monga B, Laugel V, Chaigne D, Rodier G, Ginglinger E, Boulay C, Courtois S, Drouot N, Fritsch M, Delaunoy JP, Stoppa-Lyonnet D, Tranchant C, Koenig M. Anheim M, et al. Among authors: delaunoy jp. Neurogenetics. 2010 Feb;11(1):1-12. doi: 10.1007/s10048-009-0196-y. Epub 2009 May 14. Neurogenetics. 2010. PMID: 19440741

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