Chaabouni HB - Search Results

Year	Number of Results
2007	1
2011	2
2012	2
2013	1
2014	2
2015	1
2019	1
2024	0

1

Autosomal recessive congenital cataract, intellectual disability phenotype linked to STX3 in a consanguineous Tunisian family.

Chograni M, Alkuraya FS, Ourteni I, Maazoul F, Lariani I, Chaabouni HB. Chograni M, et al. Among authors: chaabouni hb. Clin Genet. 2015 Sep;88(3):283-7. doi: 10.1111/cge.12489. Epub 2014 Oct 30. Clin Genet. 2015. PMID: 25358429

2

Molecular confirmation of founder mutation c.-167A>G in Tunisian patients with PMLD disease.

Kammoun Jellouli N, Salem IH, Ellouz E, Louhichi N, tlili A, Kammoun F, Triki C, Fakhfakh F; Tunisian Network on Mental Retardation Study. Kammoun Jellouli N, et al. Gene. 2013 Jan 25;513(2):233-8. doi: 10.1016/j.gene.2012.10.070. Epub 2012 Nov 7. Gene. 2013. PMID: 23142375

3

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

4

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.

Redin C, Le Gras S, Mhamdi O, Geoffroy V, Stoetzel C, Vincent MC, Chiurazzi P, Lacombe D, Ouertani I, Petit F, Till M, Verloes A, Jost B, Chaabouni HB, Dollfus H, Mandel JL, Muller J. Redin C, et al. Among authors: chaabouni hb. J Med Genet. 2012 Aug;49(8):502-12. doi: 10.1136/jmedgenet-2012-100875. Epub 2012 Jul 7. J Med Genet. 2012. PMID: 22773737 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. 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

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 hb. BMC Ophthalmol. 2011 Nov 21;11:35. doi: 10.1186/1471-2415-11-35. BMC Ophthalmol. 2011. PMID: 22103961 Free PMC article.

7

Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria.

Jellouli NK, Hadj Salem I, Ellouz E, Kamoun Z, kamoun F, tlili A, Kaabachi N, Triki C, Fakhfakh F; Tunisian Network on Mental Retardation study. Jellouli NK, et al. J Hum Genet. 2014 Apr;59(4):216-22. doi: 10.1038/jhg.2014.4. Epub 2014 Feb 27. J Hum Genet. 2014. PMID: 24573090

8

Coexistence of Behçet's disease with ankylosing spondylitis and familial Mediterranean fever: a rare occurrence.

Frigui M, Kechaou M, Jallouli M, Kaddour N, Chaabouni HB, Bahloul Z. Frigui M, et al. Among authors: chaabouni hb. Clin Pract. 2011 May 6;1(2):e34. doi: 10.4081/cp.2011.e34. eCollection 2011 May 16. Clin Pract. 2011. PMID: 24765296 Free PMC article.

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