Badens C - Search Results

1

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

2

A novel polymorphism 3' to the beta-globin gene.

Badens C, Merghoub T, Lena-Russo D, Labie D, Elion J, Mattei JF. Badens C, et al. Hemoglobin. 1998 Jul;22(4):387-90. doi: 10.3109/03630269809071534. Hemoglobin. 1998. PMID: 9730370 No abstract available.

3

Characterization of a new polymorphism, IVS-I-108 (T-->C), and a new beta-thalassemia mutation, -27 (A-->T), discovered in the course of a prenatal diagnosis.

Badens C, Jassim N, Martini N, Mattei JF, Elion J, Lena-Russo D. Badens C, et al. Hemoglobin. 1999 Nov;23(4):339-44. doi: 10.3109/03630269909090749. Hemoglobin. 1999. PMID: 10569722

4

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

5

[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.

6

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

7

[Beta(o)/beta(o) thalassemia with a mild phenotype].

Hémar C, Nibourel O, Maboudou P, Méreau-Richard C, Badens C, Rousseaux J, Rose C. Hémar C, et al. Among authors: badens c. Ann Biol Clin (Paris). 2006 Jul-Aug;64(4):341-5. Ann Biol Clin (Paris). 2006. PMID: 16829478 Free article. French.

8

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

9

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

10

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

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