Jemaa LB - Search Results

Year	Number of Results
1999	1
2001	1
2004	1
2005	1
2007	1
2011	1
2012	1
2013	1
2014	1
2016	1
2019	1
2020	1
2025	1

1

Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803.

Sjøstrøm E, Studniarczyk D, Dou X, Dahl RS, Cruz V, Wang H, Mercier S, Deb W, Besnard T, Friedman J, Essid M, Karoui S, Jemaa LB, Benyounes T, Lesca G, Tonduti D, Iascone M, Orcesi S, Fradin M, Dubourg C, Napuri S, Cull-Candy SG, Coombs ID, Farrant M, Bayat A. Sjøstrøm E, et al. Among authors: jemaa lb. Clin Genet. 2025 May 20. doi: 10.1111/cge.14770. Online ahead of print. Clin Genet. 2025. PMID: 40391499

2

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

3

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

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

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.

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

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

8

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

9

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

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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