Badens C - Search Results

1

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

2

[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.

3

A novel mutation (delAACT) in the tyrosinase gene in a Cameroonian black with type 1A oculocutaneous albinism.

Badens C, Courrier S, Aquaron R. Badens C, et al. J Dermatol Sci. 2006 May;42(2):121-4. doi: 10.1016/j.jdermsci.2006.01.007. Epub 2006 Mar 6. J Dermatol Sci. 2006. PMID: 16517127 No abstract available.

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

Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene.

Aquaron R, Soufir N, Bergé-Lefranc JL, Badens C, Austerlitz F, Grandchamp B. Aquaron R, et al. Among authors: badens c. J Hum Genet. 2007;52(9):771-780. doi: 10.1007/s10038-007-0181-y. Epub 2007 Sep 1. J Hum Genet. 2007. PMID: 17767372

7

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

8

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

9

The rare codon 24 (T>A) (beta+) mutation in association with the common codon 39 (C> T) (beta0) mutation causes transfusion-dependent beta-thalassemia in a Moroccan patient.

Agouti I, Bennani M, Levy N, Giordano P, Badens C. Agouti I, et al. Among authors: badens c. Hemoglobin. 2009;33(2):150-4. doi: 10.1080/03630260902861998. Hemoglobin. 2009. PMID: 19373592

10

Polymorphisms of the lamina maturation pathway and their association with the metabolic syndrome: the DESIR prospective study.

Fontaine-Bisson B, Alessi MC, Saut N, Fumeron F, Marre M, Dutour A, Badens C, Levy N, Tichet J, Juhan-Vague I, Trégouët DA, Balkau B, Morange PE. Fontaine-Bisson B, et al. Among authors: badens c. J Mol Med (Berl). 2010 Feb;88(2):193-201. doi: 10.1007/s00109-009-0548-y. Epub 2009 Oct 16. J Mol Med (Berl). 2010. PMID: 19841875

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