Mrad R - Search Results

1

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

2

Turner syndrome: results of the first Tunisian study group on Turner syndrome (TuSGOT).

Essaddam L, Zitouni O, Kraoua L, Trabelsi M, Sassi H, Kmiha S, Charfi F, El Guiche D, Kebaïli R, Jaballah N, Rjeb M, Zouari N, El Aribi Y, Hizem S, Wannes S, Fkih Romdhane I, Sfar MT, Ben Hamouda H, Hadj Salem R, Khlayfia Z, Khmiss T, Monastiri K, Siala N, Chouchane S, Souaa H, Khochtali I, Mahjoub B, Sfar H, Ben Jemâa L, Abroug S, Boughamoura L, Kamoun I, Kamoun T, Mrad R, Ben Becher S. Essaddam L, et al. Among authors: mrad r. J Pediatr Endocrinol Metab. 2023 Apr 21;36(6):577-583. doi: 10.1515/jpem-2022-0360. Print 2023 Jun 27. J Pediatr Endocrinol Metab. 2023. PMID: 37084413

3

Linkage relationship between incontinentia pigmenti (IP2) and nine terminal X long arm markers.

Sefiani A, M'rad R, Simard L, Vincent A, Julier C, Holvoet-Vermaut L, Heuertz S, Dahl N, Stalder JF, Peter MO, et al. Sefiani A, et al. Hum Genet. 1991 Jan;86(3):297-9. doi: 10.1007/BF00202414. Hum Genet. 1991. PMID: 1847690

4

[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.

5

[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.

6

[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.

7

[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.

8

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

9

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

10

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

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