M'rad R - Search Results

1

TOP3B: A Novel Candidate Gene in Juvenile Myoclonic Epilepsy?

Daghsni M, Lahbib S, Fradj M, Sayeb M, Kelmemi W, Kraoua L, Kchaou M, Maazoul F, Echebbi S, Ben Ali N, Abdelhak S, M'rad R. Daghsni M, et al. Cytogenet Genome Res. 2018;154(1):1-5. doi: 10.1159/000486945. Epub 2018 Feb 28. Cytogenet Genome Res. 2018. PMID: 29490292

2

[Value and practical applications of cytogenetic in situ hybridization technique].

Hila L, Ben Jemaa L, Mrad R, Maazoul F, Chaabouni H. Hila L, et al. Tunis Med. 1998 May;76(5):113-9. Tunis Med. 1998. PMID: 9739203 Review. French. No abstract available.

3

Refined 2.7 centimorgan locus in Xp21.3-22.1 for a nonspecific X-linked mental retardation gene (MRX54).

Jemaa LB, des Portes V, Zemni R, Mrad R, Maazoul F, Beldjord C, Chaabouni H, Chelly J. Jemaa LB, et al. Am J Med Genet. 1999 Jul 30;85(3):276-82. doi: 10.1002/(sici)1096-8628(19990730)85:3<276::aid-ajmg18>3.0.co;2-i. Am J Med Genet. 1999. PMID: 10398243

4

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. J Clin Endocrinol Metab. 2004 Jan;89(1):368-74. doi: 10.1210/jc.2003-031056. J Clin Endocrinol Metab. 2004. PMID: 14715874

5

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. Diagn Mol Pathol. 2005 Dec;14(4):250-2. doi: 10.1097/01.pas.0000177797.81206.eb. Diagn Mol Pathol. 2005. PMID: 16319697

6

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. Tunis Med. 2006 Aug;84(8):465-9. Tunis Med. 2006. PMID: 17175684

7

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. 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

8

Y chromosome microdeletions in Tunisian infertile males.

Rejeb I, M'rad R, Maazoul F, Trabelsi M, Ben Jemaa L, Chaabouni M, Zhioua F, Chaabouni H. Rejeb I, et al. Pathol Biol (Paris). 2008 May;56(3):111-5. doi: 10.1016/j.patbio.2007.05.002. Epub 2007 Nov 26. Pathol Biol (Paris). 2008. PMID: 18031951

9

[Genetic analysis of Turner syndrome: 89 cases in Tunisia].

Kammoun I, Chaabouni M, Trabelsi M, Ouertani I, Kraoua L, Chelly I, M'rad R, Ben Jemaa L, Maâzoul F, Chaabouni H. Kammoun I, et al. Ann Endocrinol (Paris). 2008 Nov;69(5):440-5. doi: 10.1016/j.ando.2008.01.007. Epub 2008 Jun 9. Ann Endocrinol (Paris). 2008. PMID: 18541220 French.

10

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. 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

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