Jaouadi H - Search Results

1

Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young.

Jaouadi H, Bouyacoub Y, Chabrak S, Kraoua L, Zaroui A, Elouej S, Nagara M, Dallali H, Delague V, Levy N, Benkhalifa R, Mechmeche R, Zaffran S, Abdelhak S. Jaouadi H, et al. Herz. 2021 Apr;46(Suppl 1):94-102. doi: 10.1007/s00059-019-04883-1. Epub 2020 Jan 22. Herz. 2021. PMID: 31970460 English.

2

Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features.

Jaouadi H, Kraoua L, Chaker L, Atkinson A, Delague V, Levy N, Benkhalifa R, Mrad R, Abdelhak S, Zaffran S. Jaouadi H, et al. J Hum Genet. 2018 Oct;63(10):1077-1082. doi: 10.1038/s10038-018-0492-1. Epub 2018 Jul 25. J Hum Genet. 2018. PMID: 30046096 Free article. Clinical Trial.

3

Identification of two variants in AGRN and RPL3L genes in a patient with catecholaminergic polymorphic ventricular tachycardia suggesting new candidate disease genes and digenic inheritance.

Jaouadi H, Chabrak S, Lahbib S, Abdelhak S, Zaffran S. Jaouadi H, et al. Clin Case Rep. 2022 Feb 20;10(2):e05339. doi: 10.1002/ccr3.5339. eCollection 2022 Feb. Clin Case Rep. 2022. PMID: 35341025 Free PMC article.

4

A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation.

Jaouadi H, Chehida AB, Kraoua L, Etchevers HC, Argiro L, Kasdallah N, Blibech S, Delague V, Lévy N, Tebib N, Mrad R, Abdelhak S, Benkhalifa R, Zaffran S. Jaouadi H, et al. Genet Res (Camb). 2019 Apr 29;101:e6. doi: 10.1017/S0016672319000041. Genet Res (Camb). 2019. PMID: 31030682 Free PMC article.

5

Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome.

Kraoua L, Jaouadi H, Allouche M, Achour A, Kaouther H, Ahmed HB, Chaker L, Maazoul F, Ouarda F, Zaffran S, M'rad R. Kraoua L, et al. Among authors: jaouadi h. Mol Genet Genomic Med. 2022 Jul;10(7):e1954. doi: 10.1002/mgg3.1954. Epub 2022 Jun 3. Mol Genet Genomic Med. 2022. PMID: 35656879 Free PMC article.

6

Dilated-Left Ventricular Non-Compaction Cardiomyopathy in a Pediatric Case with SPEG Compound Heterozygous Variants.

Jaouadi H, El Louali F, Wanert C, Cano A, Ovaert C, Zaffran S. Jaouadi H, et al. Int J Mol Sci. 2022 May 6;23(9):5205. doi: 10.3390/ijms23095205. Int J Mol Sci. 2022. PMID: 35563595 Free PMC article.

7

H syndrome: Clinical, histological and genetic investigation in Tunisian patients.

Jaouadi H, Zaouak A, Sellami K, Messaoud O, Chargui M, Hammami H, Jones M, Jouini R, Chadli Debbiche A, Chraiet K, Fenniche S, Mrad R, Mokni M, Turki H, Benkhalifa R, Abdelhak S. Jaouadi H, et al. J Dermatol. 2018 Aug;45(8):978-985. doi: 10.1111/1346-8138.14359. Epub 2018 May 29. J Dermatol. 2018. PMID: 29808591

8

Identification of non-synonymous variations in ROBO1 and GATA5 genes in a family with bicuspid aortic valve disease.

Jaouadi H, Gérard H, Théron A, Collod-Béroud G, Collart F, Avierinos JF, Zaffran S. Jaouadi H, et al. J Hum Genet. 2022 Sep;67(9):515-518. doi: 10.1038/s10038-022-01036-x. Epub 2022 May 9. J Hum Genet. 2022. PMID: 35534675

9

Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology.

Lahbib S, Leblond CS, Hamza M, Regnault B, Lemée L, Mathieu A, Jaouadi H, Mkaouar R, Youssef-Turki IB, Belhadj A, Kraoua I, Bourgeron T, Abdelhak S. Lahbib S, et al. Among authors: jaouadi h. J Appl Genet. 2019 Feb;60(1):49-56. doi: 10.1007/s13353-018-0472-3. Epub 2018 Oct 4. J Appl Genet. 2019. PMID: 30284680

10

H-like syndrome successfully treated with methotrexate.

Zaouak A, Jaouadi H, Chamli A, Jouini R, Abdelhak S, Hammami H, Fenniche S. Zaouak A, et al. Among authors: jaouadi h. Dermatol Ther. 2019 Jul;32(4):e12994. doi: 10.1111/dth.12994. Epub 2019 Jun 25. Dermatol Ther. 2019. PMID: 31197883 No abstract available.

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