Chaabouni H - Search Results

1

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

2

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: chaabouni h. Diagn Mol Pathol. 2011 Jun;20(2):123-7. doi: 10.1097/PDM.0b013e3181f24807. Diagn Mol Pathol. 2011. PMID: 21532487

3

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

4

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

5

Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome.

Kharrat M, Tajouri A, Nacef IB, Hizem C, Trabelsi M, Maazoul F, M'rad R, Chaabouni HB. Kharrat M, et al. Among authors: chaabouni hb. Steroids. 2019 Dec;152:108489. doi: 10.1016/j.steroids.2019.108489. Epub 2019 Sep 6. Steroids. 2019. PMID: 31499074

6

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: chaabouni h. 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

7

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

8

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: chaabouni h. 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

9

Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies: a third case report.

Chaabouni M, Maazoul F, Ben Hamida A, Berhouma M, Marrakchi Z, Chaabouni H. Chaabouni M, et al. Among authors: chaabouni h. Am J Med Genet A. 2008 Jul 15;146A(14):1825-7. doi: 10.1002/ajmg.a.32349. Am J Med Genet A. 2008. PMID: 18553510

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. Among authors: chaabouni h. 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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