Maazoul F - Search Results

1

Only two mutations detected in 15 Tunisian patients with 11β-hydroxylase deficiency: the p.Q356X and the novel p.G379V.

Kharrat M, Trabelsi S, Chaabouni M, Maazoul F, Kraoua L, Ben Jemaa L, Gandoura N, Barsaoui S, Morel Y, M'rad R, Chaabouni H. Kharrat M, et al. Among authors: maazoul f. Clin Genet. 2010 Oct;78(4):398-401. doi: 10.1111/j.1399-0004.2010.01403.x. Clin Genet. 2010. PMID: 20331679

2

Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation.

Kharrat M, Tardy V, M'Rad R, Maazoul F, Jemaa LB, Refaï M, Morel Y, Chaabouni H. Kharrat M, et al. Among authors: maazoul f. J Clin Endocrinol Metab. 2004 Jan;89(1):368-74. doi: 10.1210/jc.2003-031056. J Clin Endocrinol Metab. 2004. PMID: 14715874

3

A novel 13-bp deletion in exon 1 of CYP21 gene causing severe congenital adrenal hyperplasia.

Kharrat M, Tardy V, M'rad R, Maazoul F, Morel Y, Chaabouni H. Kharrat M, et al. Among authors: maazoul f. Diagn Mol Pathol. 2005 Dec;14(4):250-2. doi: 10.1097/01.pas.0000177797.81206.eb. Diagn Mol Pathol. 2005. PMID: 16319697

4

A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation.

Rejeb I, Ben Jemaa L, Abaied L, Kraoua L, Saillour Y, Maazoul F, Chelly J, Chaabouni H. Rejeb I, et al. Among authors: maazoul f. Eur J Med Genet. 2011 May-Jun;54(3):241-6. doi: 10.1016/j.ejmg.2011.01.010. Epub 2011 Feb 26. Eur J Med Genet. 2011. PMID: 21315190

5

Detection of a frequent duplicated CYP21A2 gene carrying a Q318X mutation in a general population with quantitative PCR methods.

Kharrat M, Riahi A, Maazoul F, M'rad R, Chaabouni H. Kharrat M, et al. Among authors: maazoul f. Diagn Mol Pathol. 2011 Jun;20(2):123-7. doi: 10.1097/PDM.0b013e3181f24807. Diagn Mol Pathol. 2011. PMID: 21532487

6

Epidemiologic and clinical characteristics of 458 Tunisian patients with intellectual deficiency and a reconsidered diagnostic strategy.

Trabelsi M, Chelly I, Maazoul F, Chaabouni M, Ouertani I, Kraoua L, Khemakhem L, Mrad R, Chaabouni H. Trabelsi M, et al. Among authors: maazoul f. Eur J Med Genet. 2013 Jan;56(1):13-9. doi: 10.1016/j.ejmg.2012.10.012. Epub 2012 Nov 8. Eur J Med Genet. 2013. PMID: 23142735

7

A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree.

Abaied L, Trabelsi M, Chaabouni M, Kharrat M, Kraoua L, M'rad R, Tebib N, Maazoul F, Chaabouni H. Abaied L, et al. Among authors: maazoul f. Am J Med Genet A. 2010 Jan;152A(1):141-6. doi: 10.1002/ajmg.a.33179. Am J Med Genet A. 2010. PMID: 20034088

8

Molecular analysis of the SMN1 and NAIP genes in 60 Tunisian spinal muscular atrophy patients.

Mrad R, Dorboz I, Ben Jemaa L, Maazoul F, Trabelsi M, Chaabouni M, Mlaiki B, Miladi N, Hentati F, Chaabouni H. Mrad R, et al. Among authors: maazoul f. Tunis Med. 2006 Aug;84(8):465-9. Tunis Med. 2006. PMID: 17175684

9

MEFV mutations in Tunisian patients suffering from familial Mediterranean fever.

Chaabouni HB, Ksantini M, M'rad R, Kharrat M, Chaabouni M, Maazoul F, Bahloul Z, Ben Jemaa L, Ben Moussa F, Ben Chaabane T, Mrad S, Touitou I, Smaoui N. Chaabouni HB, et al. Among authors: maazoul f. Semin Arthritis Rheum. 2007 Jun;36(6):397-401. doi: 10.1016/j.semarthrit.2006.12.004. Epub 2007 Feb 5. Semin Arthritis Rheum. 2007. PMID: 17276496

10

Non-syndromic autosomal recessive mental retardation in Tunisian families : exclusion of GRIK2 and TUSC3 genes.

Mhamdi O, Kharrat M, Mrad R, Maazoul F, Chaabouni Bouhamed H. Mhamdi O, et al. Among authors: maazoul f. Tunis Med. 2011 May;89(5):479-84. Tunis Med. 2011. PMID: 21557188 Free article.

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