Chaabouni H - Search Results

1

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

2

A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features.

Rejeb I, Saillour Y, Castelnau L, Julien C, Bienvenu T, Taga P, Chaabouni H, Chelly J, Ben Jemaa L, Bahi-Buisson N. Rejeb I, et al. Among authors: chaabouni h. Eur J Hum Genet. 2008 Nov;16(11):1358-63. doi: 10.1038/ejhg.2008.103. Epub 2008 Jun 4. Eur J Hum Genet. 2008. PMID: 18523455

3

X linked mental retardation.

Rejeb I, Ben Jemaa L, Chaabouni H. Rejeb I, et al. Among authors: chaabouni h. Tunis Med. 2009 May;87(5):311-8. Tunis Med. 2009. PMID: 19927760 Free article. Review.

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

A 24-Mb deletion in 14q in a girl with corpus callosum hypoplasia.

Ouertani I, Chaabouni M, Turki I, Lelorc'h M, Attié-Bitach T, Ben Jemaa L, Khouja-Gouider N, Chaabouni H. Ouertani I, et al. Among authors: chaabouni m, chaabouni h. Eur J Med Genet. 2009 Jul-Aug;52(4):256-9. doi: 10.1016/j.ejmg.2009.01.004. Epub 2009 Feb 6. Eur J Med Genet. 2009. PMID: 19450439

6

[Interest of studying subtelomeric abnormalities by in situ fluorescent hybridization to explore idiopathic mental retardation].

Hila L, Ben Jemaa L, Daoudi R, Maazoul F, Chaabouni H. Hila L, et al. Among authors: chaabouni h. Tunis Med. 2008 May;86(5):500-5. Tunis Med. 2008. PMID: 19469308 French.

7

MLPA subtelomere analysis in Tunisian mentally retarded patients.

Hila L, Tébourbi H, Abaied L, Rejeb I, Ben Jemaa L, Chaabouni H. Hila L, et al. Among authors: chaabouni h. Biochem Genet. 2009 Oct;47(9-10):727-33. doi: 10.1007/s10528-009-9271-1. Epub 2009 Jul 10. Biochem Genet. 2009. PMID: 19590834

8

Subtelomeric microduplications in three sisters with moderate mental retardation.

Hila L, Tébourbi H, Abeid L, Rejeb I, Chaabouni H. Hila L, et al. Among authors: chaabouni h. Biochem Genet. 2010 Dec;48(11-12):909-14. doi: 10.1007/s10528-010-9371-y. Epub 2010 Sep 2. Biochem Genet. 2010. PMID: 20811773

9

Hexasomy of the Prader-Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: case report.

Kraoua L, Chaabouni M, Ewers E, Chelly I, Ouertani I, Ben Jemaa L, Maazoul F, Liehr T, Chaabouni H. Kraoua L, et al. Among authors: chaabouni m, chaabouni h. Eur J Med Genet. 2011 Jul-Aug;54(4):e446-50. doi: 10.1016/j.ejmg.2011.04.007. Epub 2011 May 6. Eur J Med Genet. 2011. PMID: 21621018

10

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: chaabouni m, chaabouni h. 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

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