Jemaa LB - Search Results

1

Arg924X homozygous mutation in insulin receptor gene in a Tunisian patient with Donohue syndrome.

Azzabi O, Jilani H, Rejeb I, Siala N, Elaribi Y, Hizem S, Selmi I, Halioui S, Lascols O, Jemaa LB, Maherzi A. Azzabi O, et al. Among authors: jemaa lb. J Pediatr Endocrinol Metab. 2016 Jun 1;29(6):753-6. doi: 10.1515/jpem-2015-0232. J Pediatr Endocrinol Metab. 2016. PMID: 26974131

2

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: jemaa lb. 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.

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

4

Mutation analysis of TBX22 reveals new mutation in Tunisian CPX family.

Chaabouni M, Smaoui N, Benneji N, M'rad R, Jemaa LB, Hachicha S, Chaabouni H. Chaabouni M, et al. Among authors: jemaa lb. Clin Dysmorphol. 2005 Jan;14(1):23-25. Clin Dysmorphol. 2005. PMID: 15602089

5

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

6

De novo trisomy 20p of paternal origin.

Chaabouni M, Turleau C, Karboul L, Jemaa LB, Maazoul F, Attié-Bitach T, Romana S, Chaabouni H. Chaabouni M, et al. Among authors: jemaa lb. Am J Med Genet A. 2007 May 15;143A(10):1100-3. doi: 10.1002/ajmg.a.31704. Am J Med Genet A. 2007. PMID: 17431912

7

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. Among authors: jemaa lb. Ann Genet. 2001 Apr-Jun;44(2):99-104. doi: 10.1016/s0003-3995(01)01046-2. Ann Genet. 2001. PMID: 11522249

8

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. 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

9

Skeletal phenotype/genotype in progressive pseudorheumatoid chondrodysplasia.

Al Kaissi A, Kenis V, Jemaa LB, Sassi H, Shboul M, Grill F, Ganger R, Kircher SG. Al Kaissi A, et al. Among authors: jemaa lb. Clin Rheumatol. 2020 Feb;39(2):553-560. doi: 10.1007/s10067-019-04783-z. Epub 2019 Oct 18. Clin Rheumatol. 2020. PMID: 31628567

10

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

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