Ben Charfeddine I - Search Results

1

Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients.

Amara A, Adala L, Ben Charfeddine I, Mamaï O, Mili A, Lazreg TB, H'mida D, Amri F, Salem N, Boughammura L, Saad A, Gribaa M. Amara A, et al. Among authors: ben charfeddine i. Eur J Paediatr Neurol. 2012 Mar;16(2):167-74. doi: 10.1016/j.ejpn.2011.07.007. Epub 2011 Aug 6. Eur J Paediatr Neurol. 2012. PMID: 21821450

2

A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect.

Mili A, Ben Charfeddine I, Amara A, Mamaï O, Adala L, Ben Lazreg T, Bouguila J, Saad A, Limem K, Gribaa M. Mili A, et al. Among authors: ben lazreg t, ben charfeddine i. Clin Genet. 2012 Dec;82(6):534-9. doi: 10.1111/j.1399-0004.2011.01806.x. Epub 2011 Nov 23. Clin Genet. 2012. PMID: 22035446

3

Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III.

Mili A, Ben Charfeddine I, Mamaï O, Abdelhak S, Adala L, Amara A, Pagliarani S, Lucchiarri S, Ayadi A, Tebib N, Harbi A, Bouguila J, H'Mida D, Saad A, Limem K, Comi GP, Gribaa M. Mili A, et al. Among authors: ben charfeddine i. J Hum Genet. 2012 Mar;57(3):170-5. doi: 10.1038/jhg.2011.122. Epub 2011 Nov 17. J Hum Genet. 2012. PMID: 22089644

4

Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β hydroxylase deficiency in a Tunisian family.

Ben Charfeddine I, Riepe FG, Kahloul N, Kulle AE, Adala L, Mamaï O, Amara A, Mili A, Amri F, Saad A, Holterhus PM, Gribaa M. Ben Charfeddine I, et al. Gen Comp Endocrinol. 2012 Feb 1;175(3):514-8. doi: 10.1016/j.ygcen.2011.12.017. Epub 2011 Dec 22. Gen Comp Endocrinol. 2012. PMID: 22210247

5

Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: characterization of three novel polymorphisms.

Ben Charfeddine I, Riepe FG, Clauser E, Ayedi A, Makni S, Sfar MT, Sboui H, Kahloul N, Ben Hamouda H, Chouchane S, Trimech S, Zouari N, M'Rabet S, Amri F, Saad A, Holterhus PM, Gribaa M. Ben Charfeddine I, et al. Gene. 2012 Oct 1;507(1):20-6. doi: 10.1016/j.gene.2012.07.027. Epub 2012 Jul 25. Gene. 2012. PMID: 22841790

6

Macrozoospermia: screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian population.

Ghédir H, Gribaa M, Mamaî O, Ben Charfeddine I, Braham A, Amara A, Mehdi M, Saad A, Ibala-Romdhane S. Ghédir H, et al. Among authors: ben charfeddine i. J Assist Reprod Genet. 2015 Nov;32(11):1651-8. doi: 10.1007/s10815-015-0565-4. Epub 2015 Sep 4. J Assist Reprod Genet. 2015. PMID: 26341096 Free PMC article.

7

Genetic study in a tunisian family revealed IVS1+1G>A mutation in the CHM gene.

Ben Charfeddine I, Ben Lazreg T, Ben Rayana N, Amara A, Mamaï O, Knani L, Mili A, M'sakni A, Saad A, Ben Hadj Hamida F, Gribaa M. Ben Charfeddine I, et al. Ann Biol Clin (Paris). 2015 Jul-Aug;73(4):469-73. doi: 10.1684/abc.2015.1052. Ann Biol Clin (Paris). 2015. PMID: 26411914 Free article.

8

An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation.

Gribaa M, Younes M, Bouyacoub Y, Korbaa W, Ben Charfeddine I, Touzi M, Adala L, Mamay O, Bergaoui N, Saad A. Gribaa M, et al. Among authors: ben charfeddine i. J Bone Miner Metab. 2010;28(1):111-5. doi: 10.1007/s00774-009-0111-5. Epub 2009 Aug 5. J Bone Miner Metab. 2010. PMID: 19655082

9

Frequency of HNF4A-P.I463V Variant in the Tunisian North-African Population and Its Relation with Diabetes Mellitus.

Amara A, Ben Charfeddine I, Ghédir H, Mamaï O, Jemni-Yacoub S, Chaieb L, Saad A, Chadli-Chaieb M, Gribaa M. Amara A, et al. Among authors: ben charfeddine i. Iran J Public Health. 2015 Mar;44(3):396-403. Iran J Public Health. 2015. PMID: 25905084 Free PMC article.

10

Multiplex Minisequencing of the HBB Gene: A Rapid Strategy to Confirm the Most Frequent β-Thalassemia Mutations in the Tunisian Population.

Ben Charfeddine I, Ben Lazreg T, M'sakni A, Amara A, Mlika A, Chaïeb A, Hlel K, Zouari N, Zbidi F, Bouguila J, Soyah N, Ayedi A, Ben Hamouda H, Abroug S, Boughamoura L, Saad A, Gribaa M. Ben Charfeddine I, et al. Hemoglobin. 2015;39(4):251-5. doi: 10.3109/03630269.2015.1041605. Epub 2015 May 27. Hemoglobin. 2015. PMID: 26016902

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