Hmida D - Search Results

1

Genome Tunisia Project: paving the way for precision medicine in North Africa.

Hamdi Y, Trabelsi M, Ghedira K, Boujemaa M, Ben Ayed I, Charfeddine C, Souissi A, Rejeb I, Kammoun Rebai W, Hkimi C, Neifar F, Jandoubi N, Mkaouar R, Chaouch M, Bennour A, Kamoun S, Chaker Masmoudi H, Abid N, Mezghani Khemakhem M; GTCA Consortium; Masmoudi S, Saad A, BenJemaa L, BenKahla A, Boubaker S, Mrad R, Kamoun H, Abdelhak S, Gribaa M, Belguith N, Kharrat N, Hmida D, Rebai A. Hamdi Y, et al. Among authors: hmida d. Genome Med. 2024 Aug 27;16(1):104. doi: 10.1186/s13073-024-01365-w. Genome Med. 2024. PMID: 39187811 Free PMC article.

2

Is Tunisia ready for precision medicine? Challenges of medical genomics within a LMIC healthcare system.

Trabelsi N, Othman H, Bedhioufi H, Chouk H, El Mabrouk H, Mahdouani M, Gribaa M, Saad A, H'mida D. Trabelsi N, et al. J Community Genet. 2024 Aug;15(4):339-350. doi: 10.1007/s12687-024-00722-x. Epub 2024 Jul 31. J Community Genet. 2024. PMID: 39080231 Free PMC article. Review.

3

X-linked recessive ichthyosis in 8 Tunisian patients: awareness of misdiagnosis due to the technical trap of the STS pseudogene.

Chouk H, Saad S, Dimassi S, Fetoui NG, Bennour A, Gammoudi R, Elmabrouk H, Saad A, Denguezli M, H'mida D. Chouk H, et al. BMC Med Genomics. 2022 Jul 26;15(1):165. doi: 10.1186/s12920-022-01319-4. BMC Med Genomics. 2022. PMID: 35883075 Free PMC article.

4

Phenotypic intrafamilial variability including H syndrome and Rosai-Dorfman disease associated with the same c.1088G > A mutation in the SLC29A3 gene.

Chouk H, Ben Rejeb M, Boussofara L, Elmabrouk H, Ghariani N, Sriha B, Saad A, H'Mida D, Denguezli M. Chouk H, et al. Hum Genomics. 2021 Oct 17;15(1):63. doi: 10.1186/s40246-021-00362-z. Hum Genomics. 2021. PMID: 34657628 Free PMC article.

5

Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer.

Mahdouani M, Ben Ahmed S, Hmila F, Rais H, Ben Sghaier R, Saad H, Ben Said M, Masmoudi S, Hmida D, Brieger A, Zeuzem S, Saad A, Gribaa M, Plotz G. Mahdouani M, et al. Among authors: hmida d. PLoS One. 2022 Dec 1;17(12):e0278283. doi: 10.1371/journal.pone.0278283. eCollection 2022. PLoS One. 2022. PMID: 36454741 Free PMC article.

6

Functional analysis of MMR gene VUS from potential Lynch syndrome patients.

Mahdouani M, Zhuri D, Sezginer Guler H, Hmida D, Sana M, Azaza M, Ben Said M, Masmoudi S, Hmila F, Youssef S, Ben Sghaier R, Brieger A, Zeuzem S, Saad A, Gurkan H, Yalcintepe S, Gribaa M, Plotz G. Mahdouani M, et al. Among authors: hmida d. PLoS One. 2024 Jun 6;19(6):e0304141. doi: 10.1371/journal.pone.0304141. eCollection 2024. PLoS One. 2024. PMID: 38843250 Free PMC article.

7

Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome.

Manoubi W, Mahdouani M, Hmida D, Kdissa A, Rouissi A, Turki I, Gueddiche N, Soyah N, Saad A, Bouwkamp C, Elgersma Y, Mougou-Zerelli S, Gribaa M. Manoubi W, et al. Among authors: hmida d. World J Clin Cases. 2024 Jan 26;12(3):503-516. doi: 10.12998/wjcc.v12.i3.503. World J Clin Cases. 2024. PMID: 38322471 Free PMC article.

8

Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III.

Mili A, Ben Charfeddine I, Mamaï O, Abdelhak S, Adala L, Amara A, Pagliarani S, Lucchiarri S, Ayadi A, Tebib N, Harbi A, Bouguila J, H'Mida D, Saad A, Limem K, Comi GP, Gribaa M. Mili A, et al. J Hum Genet. 2012 Mar;57(3):170-5. doi: 10.1038/jhg.2011.122. Epub 2011 Nov 17. J Hum Genet. 2012. PMID: 22089644

9

Analysis of FMR1 gene premutation and X chromosome cytogenetic abnormalities in 100 Tunisian patients presenting premature ovarian failure.

Bouali N, Hmida D, Mougou S, Bouligand J, Lakhal B, Dimessi S, Francou B, Saad G, Trabelsi S, Zaouali M, Gribaa M, Chaieb M, Bibi M, Guiochon-Mantel A, Saad A. Bouali N, et al. Among authors: hmida d. Ann Endocrinol (Paris). 2015 Dec;76(6):671-8. doi: 10.1016/j.ando.2015.10.001. Epub 2015 Dec 1. Ann Endocrinol (Paris). 2015. PMID: 26593861

10

Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients.

Amara A, Adala L, Ben Charfeddine I, Mamaï O, Mili A, Lazreg TB, H'mida D, Amri F, Salem N, Boughammura L, Saad A, Gribaa M. Amara A, et al. Eur J Paediatr Neurol. 2012 Mar;16(2):167-74. doi: 10.1016/j.ejpn.2011.07.007. Epub 2011 Aug 6. Eur J Paediatr Neurol. 2012. PMID: 21821450

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