BenJemaa L - Search Results

1

New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene.

Rejeb I, Jerbi M, Jilani H, Gaied H, Elaribi Y, Hizem S, Aoudia R, Hedri H, Zaied C, Abid S, Bacha H, BenAbdallah T, BenJemaa L, Goucha R. Rejeb I, et al. Among authors: benjemaa l. BMC Med Genomics. 2021 Jun 14;14(1):160. doi: 10.1186/s12920-021-01009-7. BMC Med Genomics. 2021. PMID: 34126972 Free PMC article.

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. 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. Tunis Med. 2009 May;87(5):311-8. Tunis Med. 2009. PMID: 19927760 Review.

4

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. 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

5

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.

Zillhardt JL, Poirier K, Broix L, Lebrun N, Elmorjani A, Martinovic J, Saillour Y, Muraca G, Nectoux J, Bessieres B, Fallet-Bianco C, Lyonnet S, Dulac O, Odent S, Rejeb I, Ben Jemaa L, Rivier F, Pinson L, Geneviève D, Musizzano Y, Bigi N, Leboucq N, Giuliano F, Philip N, Vilain C, Van Bogaert P, Maurey H, Beldjord C, Artiguenave F, Boland A, Olaso R, Masson C, Nitschké P, Deleuze JF, Bahi-Buisson N, Chelly J. Zillhardt JL, et al. Eur J Hum Genet. 2016 Apr;24(4):611-4. doi: 10.1038/ejhg.2015.192. Epub 2015 Sep 23. Eur J Hum Genet. 2016. PMID: 26395554 Free PMC article.

6

First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations.

Rejeb I, Jilani H, Elaribi Y, Hizem S, Hila L, Zillahrdt JL, Chelly J, Benjemaa L. Rejeb I, et al. Among authors: benjemaa l. BMC Med Genet. 2017 Nov 17;18(1):134. doi: 10.1186/s12881-017-0493-5. BMC Med Genet. 2017. PMID: 29149870 Free PMC article.

7

Mucopolysaccharidosis type VII as a cause of recurrent Non-Immune Hydrops Fetalis: The first Tunisian case confirmed by Next-Generation Sequencing.

Hizem S, Elaribi Y, Ben Slama S, Dimassi K, Jilani H, Rejeb I, Sebaï M, Bekri S, Ben Jemaa L. Hizem S, et al. Clin Chim Acta. 2021 Feb;513:68-70. doi: 10.1016/j.cca.2020.12.027. Epub 2020 Dec 29. Clin Chim Acta. 2021. PMID: 33382994

8

Beckwith-Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature.

Sassi H, Elaribi Y, Jilani H, Rejeb I, Hizem S, Sebai M, Kasdallah N, Bouthour H, Hannachi S, Beygo J, Saad A, Buiting K, H'mida Ben-Brahim D, BenJemaa L. Sassi H, et al. Among authors: benjemaa l. Mol Genet Genomic Med. 2021 Oct;9(10):e1796. doi: 10.1002/mgg3.1796. Epub 2021 Sep 12. Mol Genet Genomic Med. 2021. PMID: 34510813 Free PMC article. Review.

9

A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report.

Jilani H, Hsoumi F, Rejeb I, Elaribi Y, Hizem S, Sebai M, Rolfs A, Benjemaa L. Jilani H, et al. Among authors: benjemaa l. Clin Case Rep. 2022 May 12;10(5):e05846. doi: 10.1002/ccr3.5846. eCollection 2022 May. Clin Case Rep. 2022. PMID: 35592045 Free PMC article.

10

A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1.

Maamouri R, Hizem S, Kammoun I, Elaribi Y, Rejeb I, Sebai M, Jilani H, Rouzier C, Cheour M, Paquis-Flucklinger V, Ben Jemaa L. Maamouri R, et al. Ophthalmic Genet. 2023 Jun;44(3):304-312. doi: 10.1080/13816810.2022.2113546. Epub 2022 Sep 12. Ophthalmic Genet. 2023. PMID: 36094066

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