Badens C - Search Results

1

Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome.

Lacoste C, Leheup B, Agouti I, Mowat D, Giuliano F, Badens C. Lacoste C, et al. Among authors: badens c. Clin Genet. 2014 Nov;86(5):502-3. doi: 10.1111/cge.12319. Epub 2013 Dec 1. Clin Genet. 2014. PMID: 24289169 No abstract available.

2

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.

Navarro CL, Cadiñanos J, De Sandre-Giovannoli A, Bernard R, Courrier S, Boccaccio I, Boyer A, Kleijer WJ, Wagner A, Giuliano F, Beemer FA, Freije JM, Cau P, Hennekam RC, López-Otín C, Badens C, Lévy N. Navarro CL, et al. Among authors: badens c. Hum Mol Genet. 2005 Jun 1;14(11):1503-13. doi: 10.1093/hmg/ddi159. Epub 2005 Apr 20. Hum Mol Genet. 2005. PMID: 15843403

3

[ATR-X syndrome: a new mutation in the XNP/ATRX gene near the helicase domain].

Giuliano F, Badens C, Richelme C, Levy N, Lambert JC. Giuliano F, et al. Among authors: badens c. Arch Pediatr. 2005 Sep;12(9):1372-5. doi: 10.1016/j.arcped.2005.03.053. Arch Pediatr. 2005. PMID: 16125058 French.

4

Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.

Badens C, Lacoste C, Philip N, Martini N, Courrier S, Giuliano F, Verloes A, Munnich A, Leheup B, Burglen L, Odent S, Van Esch H, Levy N. Badens C, et al. Clin Genet. 2006 Jul;70(1):57-62. doi: 10.1111/j.1399-0004.2006.00641.x. Clin Genet. 2006. PMID: 16813605

5

ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.

Badens C, Martini N, Courrier S, DesPortes V, Touraine R, Levy N, Edery P. Badens C, et al. Am J Med Genet A. 2006 Oct 15;140(20):2212-5. doi: 10.1002/ajmg.a.31400. Am J Med Genet A. 2006. PMID: 16955409

6

Genotypic correlation between six common beta-thalassemia mutations and the XmnI polymorphism in the Moroccan population.

Agouti I, Badens C, Abouyoub A, Khattab M, Sayah F, Barakat A, Bennani M. Agouti I, et al. Among authors: badens c. Hemoglobin. 2007;31(2):141-9. doi: 10.1080/03630260701285050. Hemoglobin. 2007. PMID: 17486495

7

Partial duplications of the ATRX gene cause the ATR-X syndrome.

Thienpont B, de Ravel T, Van Esch H, Van Schoubroeck D, Moerman P, Vermeesch JR, Fryns JP, Froyen G, Lacoste C, Badens C, Devriendt K. Thienpont B, et al. Among authors: badens c. Eur J Hum Genet. 2007 Oct;15(10):1094-7. doi: 10.1038/sj.ejhg.5201878. Epub 2007 Jun 20. Eur J Hum Genet. 2007. PMID: 17579672

8

Thalassemia intermedia due to a novel mutation in the second intervening sequence of the beta-globin gene.

Agouti I, Bennani M, Ahmed A, Barakat A, Mohamed K, Badens C. Agouti I, et al. Among authors: badens c. Hemoglobin. 2007;31(4):433-8. doi: 10.1080/03630260701613210. Hemoglobin. 2007. PMID: 17994377

9

Beta-thalassemia intermedia due to two novel mutations in the promoter region of the beta-globin gene.

Agouti I, Bennani M, Nezri M, Levy N, Badens C. Agouti I, et al. Among authors: badens c. Eur J Haematol. 2008 Apr;80(4):346-50. doi: 10.1111/j.1600-0609.2007.01017.x. Epub 2007 Dec 10. Eur J Haematol. 2008. PMID: 18081706

10

Molecular basis of beta-thalassemia in Morocco: possible origins of the molecular heterogeneity.

Agouti I, Badens C, Abouyoub A, Levy N, Bennani M. Agouti I, et al. Among authors: badens c. Genet Test. 2008 Dec;12(4):563-8. doi: 10.1089/gte.2008.0058. Genet Test. 2008. PMID: 18976160

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