Mrad R - Search Results

1

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: mrad r. Genet Res (Camb). 2019 Apr 29;101:e6. doi: 10.1017/S0016672319000041. Genet Res (Camb). 2019. PMID: 31030682 Free PMC article.

2

[Genetic analysis of Turner syndrome: 89 cases in Tunisia].

Kammoun I, Chaabouni M, Trabelsi M, Ouertani I, Kraoua L, Chelly I, M'rad R, Ben Jemaa L, Maâzoul F, Chaabouni H. Kammoun I, et al. Ann Endocrinol (Paris). 2008 Nov;69(5):440-5. doi: 10.1016/j.ando.2008.01.007. Epub 2008 Jun 9. Ann Endocrinol (Paris). 2008. PMID: 18541220 French.

3

A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree.

Abaied L, Trabelsi M, Chaabouni M, Kharrat M, Kraoua L, M'rad R, Tebib N, Maazoul F, Chaabouni H. Abaied L, et al. Am J Med Genet A. 2010 Jan;152A(1):141-6. doi: 10.1002/ajmg.a.33179. Am J Med Genet A. 2010. PMID: 20034088

4

Only two mutations detected in 15 Tunisian patients with 11β-hydroxylase deficiency: the p.Q356X and the novel p.G379V.

Kharrat M, Trabelsi S, Chaabouni M, Maazoul F, Kraoua L, Ben Jemaa L, Gandoura N, Barsaoui S, Morel Y, M'rad R, Chaabouni H. Kharrat M, et al. Clin Genet. 2010 Oct;78(4):398-401. doi: 10.1111/j.1399-0004.2010.01403.x. Clin Genet. 2010. PMID: 20331679

5

A case of a Tunisian Rett patient with a novel double-mutation of the MECP2 gene.

Fendri-Kriaa N, Hsairi I, Kifagi C, Ellouze E, Mkaouar-Rebai E, Triki C, Fakhfakh F; Tunisian network on mental retardation study. Fendri-Kriaa N, et al. Biochem Biophys Res Commun. 2011 Jun 3;409(2):270-4. doi: 10.1016/j.bbrc.2011.04.140. Epub 2011 May 7. Biochem Biophys Res Commun. 2011. PMID: 21575601

6

Molecular confirmation of founder mutation c.-167A>G in Tunisian patients with PMLD disease.

Kammoun Jellouli N, Salem IH, Ellouz E, Louhichi N, tlili A, Kammoun F, Triki C, Fakhfakh F; Tunisian Network on Mental Retardation Study. Kammoun Jellouli N, et al. Gene. 2013 Jan 25;513(2):233-8. doi: 10.1016/j.gene.2012.10.070. Epub 2012 Nov 7. Gene. 2013. PMID: 23142375

7

Epidemiologic and clinical characteristics of 458 Tunisian patients with intellectual deficiency and a reconsidered diagnostic strategy.

Trabelsi M, Chelly I, Maazoul F, Chaabouni M, Ouertani I, Kraoua L, Khemakhem L, Mrad R, Chaabouni H. Trabelsi M, et al. Among authors: mrad r. Eur J Med Genet. 2013 Jan;56(1):13-9. doi: 10.1016/j.ejmg.2012.10.012. Epub 2012 Nov 8. Eur J Med Genet. 2013. PMID: 23142735

8

Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.

M'hamdi O, Redin C, Stoetzel C, Ouertani I, Chaabouni M, Maazoul F, M'rad R, Mandel JL, Dollfus H, Muller J, Chaabouni H. M'hamdi O, et al. Clin Genet. 2014 Feb;85(2):172-7. doi: 10.1111/cge.12129. Epub 2013 Apr 5. Clin Genet. 2014. PMID: 23432027

9

The experience of a Tunisian referral centre in prenatal diagnosis of Xeroderma pigmentosum.

Messaoud O, Ben Rekaya M, Jerbi M, Ouertani I, Kefi R, Laroussi N, Bouyacoub Y, Benfadhel S, Yacoub-Youssef H, Boubaker S, Zghal M, Mrad R, Amouri A, Abdelhak S. Messaoud O, et al. Among authors: mrad r. Public Health Genomics. 2013;16(5):251-4. doi: 10.1159/000354584. Epub 2013 Sep 7. Public Health Genomics. 2013. PMID: 24021614

10

Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria.

Jellouli NK, Hadj Salem I, Ellouz E, Kamoun Z, kamoun F, tlili A, Kaabachi N, Triki C, Fakhfakh F; Tunisian Network on Mental Retardation study. Jellouli NK, et al. J Hum Genet. 2014 Apr;59(4):216-22. doi: 10.1038/jhg.2014.4. Epub 2014 Feb 27. J Hum Genet. 2014. PMID: 24573090

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