Ben Rhouma B - Search Results

1

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.

Ayers KL, Eggers S, Rollo BN, Smith KR, Davidson NM, Siddall NA, Zhao L, Bowles J, Weiss K, Zanni G, Burglen L, Ben-Shachar S, Rosensaft J, Raas-Rothschild A, Jørgensen A, Schittenhelm RB, Huang C, Robevska G, van den Bergen J, Casagranda F, Cyza J, Pachernegg S, Wright DK, Bahlo M, Oshlack A, O'Brien TJ, Kwan P, Koopman P, Hime GR, Girard N, Hoffmann C, Shilon Y, Zung A, Bertini E, Milh M, Ben Rhouma B, Belguith N, Bashamboo A, McElreavey K, Banne E, Weintrob N, BenZeev B, Sinclair AH. Ayers KL, et al. Among authors: ben rhouma b. Nat Commun. 2023 Jun 9;14(1):3403. doi: 10.1038/s41467-023-39040-0. Nat Commun. 2023. PMID: 37296101 Free PMC article.

2

ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling.

Harris A, Siggers P, Corrochano S, Warr N, Sagar D, Grimes DT, Suzuki M, Burdine RD, Cong F, Koo BK, Clevers H, Stévant I, Nef S, Wells S, Brauner R, Ben Rhouma B, Belguith N, Eozenou C, Bignon-Topalovic J, Bashamboo A, McElreavey K, Greenfield A. Harris A, et al. Among authors: ben rhouma b. Proc Natl Acad Sci U S A. 2018 May 22;115(21):5474-5479. doi: 10.1073/pnas.1801223115. Epub 2018 May 7. Proc Natl Acad Sci U S A. 2018. PMID: 29735715 Free PMC article.

3

A novel nonsense mutation in HSD17B3 gene in a Tunisian patient with sexual ambiguity.

Ben Rhouma B, Belguith N, Mnif MF, Kamoun T, Charfi N, Kamoun M, Abdelhedi F, Hachicha M, Kamoun H, Abid M, Fakhfakh F. Ben Rhouma B, et al. J Sex Med. 2013 Oct;10(10):2586-9. doi: 10.1111/j.1743-6109.2012.02763.x. Epub 2012 May 17. J Sex Med. 2013. PMID: 22594312

4

A novel de novo splicing mutation c.1444-2A>T in the TSC2 gene causes exon skipping and premature termination in a patient with tuberous sclerosis syndrome.

Abdelwahed M, Touraine R, Ben-Rhouma B, Dhieb D, Mars M, Kammoun K, Hachicha J, Triki C, Kamoun H, Keskes-Ammar L, Belguith N. Abdelwahed M, et al. Among authors: ben rhouma b. IUBMB Life. 2019 Dec;71(12):1937-1945. doi: 10.1002/iub.2134. Epub 2019 Jul 18. IUBMB Life. 2019. PMID: 31317616 Free article.

5

Molecular mechanisms underlying the defects of two novel mutations in the HSD17B3 gene found in the Tunisian population.

Ben Rhouma B, Kley M, Kallabi F, Kacem FH, Kammoun T, Safi W, Keskes L, Mnif M, Odermatt A, Belguith N. Ben Rhouma B, et al. J Steroid Biochem Mol Biol. 2023 Mar;227:106235. doi: 10.1016/j.jsbmb.2022.106235. Epub 2022 Dec 20. J Steroid Biochem Mol Biol. 2023. PMID: 36563763 Free article.

6

Novel cases of Tunisian patients with mutations in the gene encoding 17β-hydroxysteroid dehydrogenase type 3 and a founder effect.

Ben Rhouma B, Kallabi F, Mahfoudh N, Ben Mahmoud A, Engeli RT, Kamoun H, Keskes L, Odermatt A, Belguith N. Ben Rhouma B, et al. Among authors: ben mahmoud a. J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):86-94. doi: 10.1016/j.jsbmb.2016.03.007. Epub 2016 Mar 5. J Steroid Biochem Mol Biol. 2017. PMID: 26956191

7

Splicing Defects in the AAAS Gene Leading to both Exon Skipping and Partial Intron Retention in a Tunisian Patient with Allgrove Syndrome.

Kallabi F, Ben Rhouma B, Baklouti S, Ghorbel R, Felhi R, Keskes L, Kamoun H. Kallabi F, et al. Among authors: ben rhouma b. Horm Res Paediatr. 2016;86(2):90-93. doi: 10.1159/000446539. Epub 2016 Jul 15. Horm Res Paediatr. 2016. PMID: 27414811 Clinical Trial.

8

A duplex polymerase chain reaction-restriction fragment length polymorphism for rapid screening of methylenetetrahydrofolate reductase gene variants: Genotyping in acute leukemia.

Frikha R, Bouayed N, Ben Rhouma B, Keskes L, Rebai T. Frikha R, et al. Among authors: ben rhouma b. J Clin Lab Anal. 2018 Jan;32(1):e22198. doi: 10.1002/jcla.22198. Epub 2017 Apr 4. J Clin Lab Anal. 2018. PMID: 28374953 Free PMC article.

9

Chromosomal instability associated with a novel BLM frameshift mutation (c.1980-1982delAA) in two unrelated Tunisian families with Bloom syndrome.

Ben Salah G, Salem IH, Masmoudi A, Ben Rhouma B, Turki H, Fakhfakh F, Ayadi H, Kamoun H. Ben Salah G, et al. Among authors: ben rhouma b. J Eur Acad Dermatol Venereol. 2014 Oct;28(10):1318-23. doi: 10.1111/jdv.12279. Epub 2013 Oct 1. J Eur Acad Dermatol Venereol. 2014. PMID: 24118499

10

Mutational analysis in patients with neuromuscular disorders: Detection of mitochondrial deletion and double mutations in the MT-ATP6 gene.

Felhi R, Mkaouar-Rebai E, Sfaihi-Ben Mansour L, Alila-Fersi O, Tabebi M, Ben Rhouma B, Ammar M, Keskes L, Hachicha M, Fakhfakh F. Felhi R, et al. Among authors: ben rhouma b. Biochem Biophys Res Commun. 2016 Apr 22;473(1):61-66. doi: 10.1016/j.bbrc.2016.03.050. Epub 2016 Mar 16. Biochem Biophys Res Commun. 2016. PMID: 26993169

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