Chaabouni M - Search Results

1

Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation.

Chograni M, Chaabouni M, Mâazoul F, Bouzid H, Kraiem A, Chaabouni HB. Chograni M, et al. Among authors: chaabouni m, chaabouni hb. BMC Ophthalmol. 2011 Nov 21;11:35. doi: 10.1186/1471-2415-11-35. BMC Ophthalmol. 2011. PMID: 22103961 Free PMC article.

2

Absence of PITX3 mutation in a Tunisian family with congenital cataract and mental retardation.

Chograni M, Chaabouni M, Chelly I, Helayem MB, Chaabouni-Bouhamed H. Chograni M, et al. Among authors: chaabouni m, chaabouni bouhamed h. Mol Vis. 2010 Apr 3;16:582-5. Mol Vis. 2010. PMID: 20376326 Free PMC article.

3

The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly.

Chograni M, Rejeb I, Jemaa LB, Châabouni M, Bouhamed HC. Chograni M, et al. Among authors: chaabouni m. Eur J Hum Genet. 2011 Aug;19(8):851-6. doi: 10.1038/ejhg.2011.52. Epub 2011 May 11. Eur J Hum Genet. 2011. PMID: 21559051 Free PMC article.

4

Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families.

Chograni M, Derouiche K, Chaabouni M, Lariani I, Bouhamed HC. Chograni M, et al. Among authors: chaabouni m. Hum Genome Var. 2014 Sep 4;1:14008. doi: 10.1038/hgv.2014.8. eCollection 2014. Hum Genome Var. 2014. PMID: 27081502 Free PMC article.

5

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. Among authors: m rad r, chaabouni m. 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

6

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

7

Screening of the eight BBS genes in Tunisian families: no evidence of triallelism.

Smaoui N, Chaabouni M, Sergeev YV, Kallel H, Li S, Mahfoudh N, Maazoul F, Kammoun H, Gandoura N, Bouaziz A, Nouiri E, M'Rad R, Chaabouni H, Hejtmancik JF. Smaoui N, et al. Among authors: m rad r, chaabouni m, chaabouni h. Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3487-95. doi: 10.1167/iovs.05-1334. Invest Ophthalmol Vis Sci. 2006. PMID: 16877420

8

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

9

[Molecular diagnosis of fragile X syndrome].

Ben Jemaa L, Khemir S, Maazoul F, Richard L, Beldjord C, Chaabouni M, Chaabouni H. Ben Jemaa L, et al. Among authors: chaabouni m, chaabouni h. Tunis Med. 2008 Nov;86(11):973-7. Tunis Med. 2008. PMID: 19213487 French.

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

188 results

Search Page