Zaffran S - Search Results

1

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. Among authors: zaffran s. 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.

2

T-box genes and retinoic acid signaling regulate the segregation of arterial and venous pole progenitor cells in the murine second heart field.

De Bono C, Thellier C, Bertrand N, Sturny R, Jullian E, Cortes C, Stefanovic S, Zaffran S, Théveniau-Ruissy M, Kelly RG. De Bono C, et al. Among authors: zaffran s. Hum Mol Genet. 2018 Nov 1;27(21):3747-3760. doi: 10.1093/hmg/ddy266. Hum Mol Genet. 2018. PMID: 30016433

3

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. Among authors: zaffran s. Genet Res (Camb). 2019 Apr 29;101:e6. doi: 10.1017/S0016672319000041. Genet Res (Camb). 2019. PMID: 31030682 Free PMC article.

4

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. Among authors: zaffran s. Herz. 2021 Apr;46(Suppl 1):94-102. doi: 10.1007/s00059-019-04883-1. Epub 2020 Jan 22. Herz. 2021. PMID: 31970460 English.

5

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. Among authors: zaffran s. 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.

6

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. Among authors: zaffran s. 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

7

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. Among authors: zaffran s. Int J Mol Sci. 2022 May 6;23(9):5205. doi: 10.3390/ijms23095205. Int J Mol Sci. 2022. PMID: 35563595 Free PMC article.

8

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: zaffran s. 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.

9

SCN5A Variants as Genetic Arrhythmias Triggers for Familial Bileaflet Mitral Valve Prolapse.

Jaouadi H, Théron A, Hourdain J, Martel H, Nguyen K, Habachi R, Deharo JC, Collart F, Avierinos JF, Zaffran S. Jaouadi H, et al. Among authors: zaffran s. Int J Mol Sci. 2022 Nov 21;23(22):14447. doi: 10.3390/ijms232214447. Int J Mol Sci. 2022. PMID: 36430924 Free PMC article.

10

Calcium Handling in Inherited Cardiac Diseases: A Focus on Catecholaminergic Polymorphic Ventricular Tachycardia and Hypertrophic Cardiomyopathy.

Zaffran S, Kraoua L, Jaouadi H. Zaffran S, et al. Int J Mol Sci. 2023 Feb 8;24(4):3365. doi: 10.3390/ijms24043365. Int J Mol Sci. 2023. PMID: 36834774 Free PMC article. Review.

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