Belguith N - Search Results

1

Molecular mechanisms underlying the defects of two novel mutations in the HSD17B3 gene found in the Tunisian population.

Ben Rhouma B, Kley M, Kallabi F, Kacem FH, Kammoun T, Safi W, Keskes L, Mnif M, Odermatt A, Belguith N. Ben Rhouma B, et al. Among authors: belguith n. J Steroid Biochem Mol Biol. 2023 Mar;227:106235. doi: 10.1016/j.jsbmb.2022.106235. Epub 2022 Dec 20. J Steroid Biochem Mol Biol. 2023. PMID: 36563763 Free article.

2

Mutational analysis of the mitochondrial tRNALeu(UUR) gene in Tunisian patients with mitochondrial diseases.

Mkaouar-Rebai E, Tlili A, Masmoudi S, Belguith N, Charfeddine I, Mnif M, Triki C, Fakhfakh F. Mkaouar-Rebai E, et al. Among authors: belguith n. Biochem Biophys Res Commun. 2007 Apr 20;355(4):1031-7. doi: 10.1016/j.bbrc.2007.02.083. Epub 2007 Feb 26. Biochem Biophys Res Commun. 2007. PMID: 17336924

3

Descriptive analyses of Turner syndrome: 49 cases in Tunisia.

Elleuch M, Mnif Feki M, Kammoun M, Charfi N, Rekik N, Bouraoui A, Kammoun T, Belguith N, Kammoun H, Sfar MT, Hachicha M, Abid M. Elleuch M, et al. Among authors: belguith n. Ann Endocrinol (Paris). 2010 Mar;71(2):111-6. doi: 10.1016/j.ando.2009.12.013. Epub 2010 Feb 12. Ann Endocrinol (Paris). 2010. PMID: 20153455

4

Ganglioneuroma of adrenal gland in a patient with Turner syndrome.

Kamoun M, Mnif MF, Rekik N, Belguith N, Charfi N, Mnif L, Elleuch M, Mnif F, Kamoun T, Mnif Z, Kamoun H, Sellami-Boudawara T, Hachicha M, Abid M. Kamoun M, et al. Among authors: belguith n. Ann Diagn Pathol. 2010 Apr;14(2):133-6. doi: 10.1016/j.anndiagpath.2009.06.007. Epub 2009 Sep 8. Ann Diagn Pathol. 2010. PMID: 20227019

5

[Bardet - Biedl syndrome in the child. A study of 11 cases].

Aloulou H, Cheikhrouhou H, Belguith N, Ben Ameur S, Ben Mansour L, Chabchoub I, Kammoun T, Hachicha M. Aloulou H, et al. Among authors: belguith n. Tunis Med. 2011 Jan;89(1):31-6. Tunis Med. 2011. PMID: 21267825 Free article. French.

6

A novel nonsense mutation in HSD17B3 gene in a Tunisian patient with sexual ambiguity.

Ben Rhouma B, Belguith N, Mnif MF, Kamoun T, Charfi N, Kamoun M, Abdelhedi F, Hachicha M, Kamoun H, Abid M, Fakhfakh F. Ben Rhouma B, et al. Among authors: belguith n. J Sex Med. 2013 Oct;10(10):2586-9. doi: 10.1111/j.1743-6109.2012.02763.x. Epub 2012 May 17. J Sex Med. 2013. PMID: 22594312

7

Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect.

Bougacha-Elleuch N, Charfi N, Miled N, Bouhajja H, Belguith N, Mnif M, Jaurge P, Chikhrouhou N, Ayadi H, Hachicha M, Abid M. Bougacha-Elleuch N, et al. Among authors: belguith n. Eur J Pediatr. 2015 Nov;174(11):1491-501. doi: 10.1007/s00431-015-2550-4. Epub 2015 May 13. Eur J Pediatr. 2015. PMID: 25968604

8

Biochemical analyses and molecular modeling explain the functional loss of 17β-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development.

Engeli RT, Rhouma BB, Sager CP, Tsachaki M, Birk J, Fakhfakh F, Keskes L, Belguith N, Odermatt A. Engeli RT, et al. Among authors: belguith n. J Steroid Biochem Mol Biol. 2016 Jan;155(Pt A):147-54. doi: 10.1016/j.jsbmb.2015.10.023. Epub 2015 Nov 3. J Steroid Biochem Mol Biol. 2016. PMID: 26545797

9

Erratum to: Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect.

Bougacha-Elleuch N, Charfi N, Miled N, Bouhajja H, Belguith N, Mnif M, Jorge P, Chikhrouhou N, Ayadi H, Hachicha M, Abid M. Bougacha-Elleuch N, et al. Among authors: belguith n. Eur J Pediatr. 2015 Dec;174(12):1703. doi: 10.1007/s00431-015-2669-3. Eur J Pediatr. 2015. PMID: 26567037 No abstract available.

10

Novel cases of Tunisian patients with mutations in the gene encoding 17β-hydroxysteroid dehydrogenase type 3 and a founder effect.

Ben Rhouma B, Kallabi F, Mahfoudh N, Ben Mahmoud A, Engeli RT, Kamoun H, Keskes L, Odermatt A, Belguith N. Ben Rhouma B, et al. Among authors: belguith n. J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):86-94. doi: 10.1016/j.jsbmb.2016.03.007. Epub 2016 Mar 5. J Steroid Biochem Mol Biol. 2017. PMID: 26956191

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