Ben Jemaa L - Search Results

1

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. Among authors: ben jemaa l. 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.

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. Among authors: ben jemaa l. 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

[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. Tunis Med. 2008 Nov;86(11):973-7. Tunis Med. 2008. PMID: 19213487 French.

4

X linked mental retardation.

Rejeb I, Ben Jemaa L, Chaabouni H. Rejeb I, et al. Among authors: ben jemaa l. Tunis Med. 2009 May;87(5):311-8. Tunis Med. 2009. PMID: 19927760 Review.

5

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. Among authors: ben jemaa l. 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

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. 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

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. 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.

8

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. Among authors: ben jemaa l. Ophthalmic Genet. 2023 Jun;44(3):304-312. doi: 10.1080/13816810.2022.2113546. Epub 2022 Sep 12. Ophthalmic Genet. 2023. PMID: 36094066

9

Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3.

Hizem S, Maamouri R, Zaouak A, Rejeb I, Karoui S, Sebai M, Jilani H, Elaribi Y, Fenniche S, Cheour M, Bilan F, Ben Jemaa L. Hizem S, et al. Among authors: ben jemaa l. Ophthalmic Genet. 2024 Feb;45(1):84-94. doi: 10.1080/13816810.2023.2206891. Epub 2023 May 9. Ophthalmic Genet. 2024. PMID: 37158316

10

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. Among authors: ben jemaa l. 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

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