H'mida-Ben Brahim D - Search Results

1

Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays.

H'mida-Ben Brahim D, M'zahem A, Assoum M, Bouhlal Y, Fattori F, Anheim M, Ali-Pacha L, Ferrat F, Chaouch M, Lagier-Tourenne C, Drouot N, Thibaut C, Benhassine T, Sifi Y, Stoppa-Lyonnet D, N'Guyen K, Poujet J, Hamri A, Hentati F, Amouri R, Santorelli FM, Tazir M, Koenig M. H'mida-Ben Brahim D, et al. J Neurol. 2011 Jan;258(1):56-67. doi: 10.1007/s00415-010-5682-5. Epub 2010 Aug 27. J Neurol. 2011. PMID: 20798953

2

Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia.

Assoum M, Salih MA, Drouot N, H'Mida-Ben Brahim D, Lagier-Tourenne C, AlDrees A, Elmalik SA, Ahmed TS, Seidahmed MZ, Kabiraj MM, Koenig M. Assoum M, et al. Brain. 2010 Aug;133(Pt 8):2439-47. doi: 10.1093/brain/awq181. Brain. 2010. PMID: 20826435

3

Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.

Fiskerstrand T, H'mida-Ben Brahim D, Johansson S, M'zahem A, Haukanes BI, Drouot N, Zimmermann J, Cole AJ, Vedeler C, Bredrup C, Assoum M, Tazir M, Klockgether T, Hamri A, Steen VM, Boman H, Bindoff LA, Koenig M, Knappskog PM. Fiskerstrand T, et al. Am J Hum Genet. 2010 Sep 10;87(3):410-7. doi: 10.1016/j.ajhg.2010.08.002. Am J Hum Genet. 2010. PMID: 20797687 Free PMC article.

4

Transient neonatal diabetes mellitus and hypomethylation at additional imprinted loci: novel ZFP57 mutation and review on the literature.

Touati A, Errea-Dorronsoro J, Nouri S, Halleb Y, Pereda A, Mahdhaoui N, Ghith A, Saad A, Perez de Nanclares G, H'mida Ben Brahim D. Touati A, et al. Among authors: h mida ben brahim d. Acta Diabetol. 2019 Mar;56(3):301-307. doi: 10.1007/s00592-018-1239-3. Epub 2018 Oct 13. Acta Diabetol. 2019. PMID: 30315371 Review.

5

Additional Tunisian patients with Sanjad-Sakati syndrome: A review toward a consensus on diagnostic criteria.

Touati A, Nouri S, Halleb Y, Kmiha S, Mathlouthi J, Tej A, Mahdhaoui N, Ben Ahmed A, Saad A, Bensignor C, H'mida Ben Brahim D. Touati A, et al. Among authors: h mida ben brahim d. Arch Pediatr. 2019 Feb;26(2):102-107. doi: 10.1016/j.arcped.2018.11.012. Epub 2019 Jan 10. Arch Pediatr. 2019. PMID: 30638765 Review.

6

Characterization of a novel mutation in PAX9 gene in a family with non-syndromic dental agenesis.

Haddaji Mastouri M, De Coster P, Zaghabani A, Trabelsi S, May Y, Saad A, Coucke P, H'mida Ben Brahim D. Haddaji Mastouri M, et al. Among authors: h mida ben brahim d. Arch Oral Biol. 2016 Nov;71:110-116. doi: 10.1016/j.archoralbio.2016.07.009. Epub 2016 Jul 28. Arch Oral Biol. 2016. PMID: 27491081

7

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: h mida ben brahim d. 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.

8

Molecular Diagnostic and Prognostic Subtyping of Gliomas in Tunisian Population.

Trabelsi S, Chabchoub I, Ksira I, Karmeni N, Mama N, Kanoun S, Burford A, Jury A, Mackay A, Popov S, Bouaouina N, Ben Ahmed S, Mokni M, Tlili K, Krifa H, Yacoubi MT, Jones C, Saad A, H'mida Ben Brahim D. Trabelsi S, et al. Among authors: h mida ben brahim d. Mol Neurobiol. 2017 May;54(4):2381-2394. doi: 10.1007/s12035-016-9805-6. Epub 2016 Mar 9. Mol Neurobiol. 2017. PMID: 26957305

9

Genetic study of non-syndromic tooth agenesis through the screening of paired box 9, msh homeobox 1, axin 2, and Wnt family member 10A genes: a case-series.

Haddaji Mastouri M, De Coster P, Zaghabani A, Jammali F, Raouahi N, Ben Salem A, Saad A, Coucke P, H'mida Ben Brahim D. Haddaji Mastouri M, et al. Among authors: h mida ben brahim d. Eur J Oral Sci. 2018 Feb;126(1):24-32. doi: 10.1111/eos.12391. Epub 2017 Nov 8. Eur J Oral Sci. 2018. PMID: 29114927

10

Partial KCNQ1OT1 hypomethylation: A disguised familial Beckwith-Wiedemann syndrome as a sporadic adrenocortical tumor.

H'mida Ben-Brahim D, Hammami S, Haddaji Mastouri M, Trabelsi S, Chourabi M, Sassi S, Mougou S, Gribaa M, Zakhama A, Guédiche MN, Saad A. H'mida Ben-Brahim D, et al. Appl Transl Genom. 2014 Oct 15;4:1-3. doi: 10.1016/j.atg.2014.10.001. eCollection 2015 Mar. Appl Transl Genom. 2014. PMID: 26937341 Free PMC article.

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