Tabebi M - Search Results

1

Case report: Two sisters with a germline CHEK2 variant and distinct endocrine neoplasias.

Vallera RD, Ding Y, Hatanpaa KJ, Bishop JA, Mirfakhraee S, Alli AA, Tevosian SG, Tabebi M, Gimm O, Söderkvist P, Estrada-Zuniga C, Dahia PLM, Ghayee HK. Vallera RD, et al. Among authors: tabebi m. Front Endocrinol (Lausanne). 2022 Nov 7;13:1024108. doi: 10.3389/fendo.2022.1024108. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36440216 Free PMC article.

2

Domain landscapes of somatic NF1 mutations in pheochromocytoma and paraganglioma.

Tabebi M, Frikha F, Volpe M, Gimm O, Söderkvist P. Tabebi M, et al. Gene. 2023 Jul 1;872:147432. doi: 10.1016/j.gene.2023.147432. Epub 2023 Apr 14. Gene. 2023. PMID: 37062455 Free article.

3

Nuclear and mitochondrial DNA alterations in pheochromocytomas and paragangliomas, and their potential treatment.

Tabebi M, Söderkvist P, Gimm O. Tabebi M, et al. Endocr Relat Cancer. 2022 Dec 8;30(1):e220217. doi: 10.1530/ERC-22-0217. Print 2023 Jan 1. Endocr Relat Cancer. 2022. PMID: 36219865 Free article. Review.

4

Novel combined UGT1A1 mutations in Crigler Najjar Syndrome type I.

Abdellaoui N, Abdelmoula B, Abdelhedi R, Kharrat N, Tabebi M, Rebai A, Bouayed Abdelmoula N. Abdellaoui N, et al. Among authors: tabebi m. J Clin Lab Anal. 2022 Jun;36(6):e24482. doi: 10.1002/jcla.24482. Epub 2022 May 9. J Clin Lab Anal. 2022. PMID: 35527687 Free PMC article.

5

Genetic Alterations in Mitochondrial DNA Are Complementary to Nuclear DNA Mutations in Pheochromocytomas.

Tabebi M, Łysiak M, Dutta RK, Lomazzi S, Turkina MV, Brunaud L, Gimm O, Söderkvist P. Tabebi M, et al. Cancers (Basel). 2022 Jan 6;14(2):269. doi: 10.3390/cancers14020269. Cancers (Basel). 2022. PMID: 35053433 Free PMC article.

6

Loss of SDHB Induces a Metabolic Switch in the hPheo1 Cell Line toward Enhanced OXPHOS.

Tabebi M, Kumar Dutta R, Skoglund C, Söderkvist P, Gimm O. Tabebi M, et al. Int J Mol Sci. 2022 Jan 5;23(1):560. doi: 10.3390/ijms23010560. Int J Mol Sci. 2022. PMID: 35008989 Free PMC article.

7

The first concurrent detection of mitochondrial DNA m.3243A>G mutation, deletion, and depletion in a family with mitochondrial diabetes.

Tabebi M, Safi W, Felhi R, Alila Fersi O, Keskes L, Abid M, Mnif M, Fakhfakh F. Tabebi M, et al. Mol Genet Genomic Med. 2020 Jul;8(7):e1292. doi: 10.1002/mgg3.1292. Epub 2020 May 11. Mol Genet Genomic Med. 2020. PMID: 32394641 Free PMC article.

8

Hypoxia Signaling and Circadian Disruption in and by Pheochromocytoma.

Tabebi M, Söderkvist P, Jensen LD. Tabebi M, et al. Front Endocrinol (Lausanne). 2018 Oct 16;9:612. doi: 10.3389/fendo.2018.00612. eCollection 2018. Front Endocrinol (Lausanne). 2018. PMID: 30386298 Free PMC article. Review.

9

Potential dysfunctional effects of synonymous variants: Insights from an exhaustive in silico analysis of the ABCB4 gene.

Khabou B, Tabebi M, Siala-Sahnoun O, Mkaouar-Rebai E, Rebai A, Fakhfakh F. Khabou B, et al. Among authors: tabebi m. Ann Hum Genet. 2018 Nov;82(6):457-468. doi: 10.1111/ahg.12276. Epub 2018 Aug 5. Ann Hum Genet. 2018. PMID: 30079523

10

A novel TBX1 missense mutation in patients with syndromic congenital heart defects.

Jaouadi A, Tabebi M, Abdelhedi F, Abid D, Kamoun F, Chabchoub I, Maatoug S, Doukali H, Belghuith N, Ksentini MA, Keskes LA, Triki C, Hachicha M, Kamoun S, Kamoun H. Jaouadi A, et al. Among authors: tabebi m. Biochem Biophys Res Commun. 2018 May 15;499(3):563-569. doi: 10.1016/j.bbrc.2018.03.190. Epub 2018 Mar 28. Biochem Biophys Res Commun. 2018. PMID: 29596833

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