Mrad R - Search Results

1

GJB2 and GJB6 screening in Tunisian patients with autosomal recessive deafness.

Trabelsi M, Bahri W, Habibi M, Zainine R, Maazoul F, Ghazi B, Chaabouni H, Mrad R. Trabelsi M, et al. Among authors: mrad r. Int J Pediatr Otorhinolaryngol. 2013 May;77(5):714-6. doi: 10.1016/j.ijporl.2013.01.024. Epub 2013 Feb 19. Int J Pediatr Otorhinolaryngol. 2013. PMID: 23434199

2

[Association of Recklinghausen's disease, dental dystrophy and myopia in a Tunisian family].

Chaabouni H, M'Rad R, Younsi CF, Ferchiou A. Chaabouni H, et al. J Genet Hum. 1988 Jun;36(3):173-6. J Genet Hum. 1988. PMID: 3137312 French.

3

[Molecular studies of chromosome Y in 20 patients with 46,XY karyotype].

Ben Jemaa Khemakhem L, Hila L, Mrad R, Maazoul F, Chaabouni H. Ben Jemaa Khemakhem L, et al. Among authors: mrad r. Tunis Med. 1997 Oct;75(10):762-7. Tunis Med. 1997. PMID: 9507345 French. No abstract available.

4

[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. Among authors: mrad r. Tunis Med. 1998 May;76(5):113-9. Tunis Med. 1998. PMID: 9739203 Review. French. No abstract available.

5

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. Among authors: mrad r. 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

6

[Epidemiologic and genetic study of trisomy 21 in Tunisia].

Chaabouni H, Smaoui N, Maazoul F, Ben Jemaa L, M'Rad R. Chaabouni H, et al. Tunis Med. 1999 Aug-Sep;77(8-9):407-14. Tunis Med. 1999. PMID: 10611817 French. No abstract available.

7

Prenatal diagnosis of chromosome disorders in Tunisian population.

Chaabouni H, Chaabouni M, Maazoul F, M'Rad R, Jemaa LB, Smaoui N, Terras K, Kammoun H, Belghith N, Ridene H, Oueslati B, Zouari F. Chaabouni H, et al. Ann Genet. 2001 Apr-Jun;44(2):99-104. doi: 10.1016/s0003-3995(01)01046-2. Ann Genet. 2001. PMID: 11522249

8

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

9

A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract.

Smaoui N, Beltaief O, BenHamed S, M'Rad R, Maazoul F, Ouertani A, Chaabouni H, Hejtmancik JF. Smaoui N, et al. Invest Ophthalmol Vis Sci. 2004 Aug;45(8):2716-21. doi: 10.1167/iovs.03-1370. Invest Ophthalmol Vis Sci. 2004. PMID: 15277496

10

Mutation analysis of TBX22 reveals new mutation in Tunisian CPX family.

Chaabouni M, Smaoui N, Benneji N, M'rad R, Jemaa LB, Hachicha S, Chaabouni H. Chaabouni M, et al. Clin Dysmorphol. 2005 Jan;14(1):23-25. Clin Dysmorphol. 2005. PMID: 15602089

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