Mili A - Search Results

1

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. 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

2

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. 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

3

[Evaluation of a fluorimetric for determining the activity of amylo-1,6-glucosidase in leukocytes for confirming the diagnosis of glycogen storage disease type III].

Miadi-Messaoud H, Mili A, Ben Khalifa H, Limem K. Miadi-Messaoud H, et al. Among authors: mili a. Ann Biol Clin (Paris). 2011 Jan-Feb;69(1):41-5. doi: 10.1684/abc.2010.0514. Ann Biol Clin (Paris). 2011. PMID: 21463994 Free article. French.

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. Among authors: mili a. 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

High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia.

Cherif W, Ben Rhouma F, Messai H, Mili A, Gribaa M, Kefi R, Ayadi A, Boughamoura L, Chemli J, Saad A, Kaabachi N, Sfar MT, Ben Dridi MF, Tebib N, Abdelhak S. Cherif W, et al. Among authors: mili a. Ann Biol Clin (Paris). 2012 Nov-Dec;70(6):648-50. doi: 10.1684/abc.2012.0766. Ann Biol Clin (Paris). 2012. PMID: 23207808 Free article.

6

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. Among authors: mili a. 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.

7

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: mili a. 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

8

Reduction of palmoplantar keratoderma Buschke-Fischer-Brauer locus to only 0.967 Mb.

Mamaï O, Boussofara L, Adala L, Amara A, Ben Charfeddine I, Ghariani N, Sriha B, Denguezli M, Mili A, Belazreg T, Saad A, Gribaa M. Mamaï O, et al. Among authors: mili a. J Dermatol Sci. 2012 Sep;67(3):210-2. doi: 10.1016/j.jdermsci.2012.06.011. Epub 2012 Jul 6. J Dermatol Sci. 2012. PMID: 22789686 No abstract available.

9

Genetic Analysis of Mu and Kappa Opioid Receptor and COMT Enzyme in Cancer Pain Tunisian Patients Under Opioid Treatment.

Chatti I, Woillard JB, Mili A, Creveaux I, Ben Charfeddine I, Feki J, Langlais S, Ben Fatma L, Saad A, Gribaa M, Libert F. Chatti I, et al. Among authors: mili a. Iran J Public Health. 2017 Dec;46(12):1704-1711. Iran J Public Health. 2017. PMID: 29259946 Free PMC article.

10

Multiple self-healing palmoplantar carcinoma: a familial predisposition to skin cancer with primary palmoplantar and conjunctival lesions.

Mamaï O, Boussofara L, Denguezli M, Escande-Beillard N, Kraeim W, Merriman B, Ben Charfeddine I, Stevanin G, Bouraoui S, Amara A, Mili A, Nouira R, H'mida D, Sriha B, Gribaa M, Saad A, Reversade B. Mamaï O, et al. Among authors: mili a. J Invest Dermatol. 2015 Jan;135(1):304-308. doi: 10.1038/jid.2014.311. Epub 2014 Jul 22. J Invest Dermatol. 2015. PMID: 25050600 Free PMC article. No abstract available.

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