Maazoul F - Search Results

1

Refined 2.7 centimorgan locus in Xp21.3-22.1 for a nonspecific X-linked mental retardation gene (MRX54).

Jemaa LB, des Portes V, Zemni R, Mrad R, Maazoul F, Beldjord C, Chaabouni H, Chelly J. Jemaa LB, et al. Among authors: maazoul f. Am J Med Genet. 1999 Jul 30;85(3):276-82. doi: 10.1002/(sici)1096-8628(19990730)85:3<276::aid-ajmg18>3.0.co;2-i. Am J Med Genet. 1999. PMID: 10398243

2

[Molecular diagnosis of fragile X syndrome].

Ben Jemaa L, Khemir S, Maazoul F, Richard L, Beldjord C, Chaabouni M, Chaabouni H. Ben Jemaa L, et al. Among authors: maazoul f. Tunis Med. 2008 Nov;86(11):973-7. Tunis Med. 2008. PMID: 19213487 French.

3

A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation.

Rejeb I, Ben Jemaa L, Abaied L, Kraoua L, Saillour Y, Maazoul F, Chelly J, Chaabouni H. Rejeb I, et al. Among authors: maazoul f. Eur J Med Genet. 2011 May-Jun;54(3):241-6. doi: 10.1016/j.ejmg.2011.01.010. Epub 2011 Feb 26. Eur J Med Genet. 2011. PMID: 21315190

4

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: maazoul f. 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

5

Prenatal diagnosis of chromosome disorders in Tunisian population.

Chaabouni H, Chaabouni M, Maazoul F, M'Rad R, Jemaa LB, Smaoui N, Terras K, Kammoun H, Belghith N, Ridene H, Oueslati B, Zouari F. Chaabouni H, et al. Among authors: maazoul f. Ann Genet. 2001 Apr-Jun;44(2):99-104. doi: 10.1016/s0003-3995(01)01046-2. Ann Genet. 2001. PMID: 11522249

6

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. Among authors: maazoul f. 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

7

Autosomal recessive congenital cataract, intellectual disability phenotype linked to STX3 in a consanguineous Tunisian family.

Chograni M, Alkuraya FS, Ourteni I, Maazoul F, Lariani I, Chaabouni HB. Chograni M, et al. Among authors: maazoul f. Clin Genet. 2015 Sep;88(3):283-7. doi: 10.1111/cge.12489. Epub 2014 Oct 30. Clin Genet. 2015. PMID: 25358429

8

[Molecular studies of chromosome Y in 20 patients with 46,XY karyotype].

Ben Jemaa Khemakhem L, Hila L, Mrad R, Maazoul F, Chaabouni H. Ben Jemaa Khemakhem L, et al. Among authors: maazoul f. Tunis Med. 1997 Oct;75(10):762-7. Tunis Med. 1997. PMID: 9507345 French. No abstract available.

9

De novo trisomy 20p of paternal origin.

Chaabouni M, Turleau C, Karboul L, Jemaa LB, Maazoul F, Attié-Bitach T, Romana S, Chaabouni H. Chaabouni M, et al. Among authors: maazoul f. Am J Med Genet A. 2007 May 15;143A(10):1100-3. doi: 10.1002/ajmg.a.31704. Am J Med Genet A. 2007. PMID: 17431912

10

WDR73-related galloway mowat syndrome with collapsing glomerulopathy.

El Younsi M, Kraoua L, Meddeb R, Ferjani M, Trabelsi M, Ouertani I, Maazoul F, Abid N, Gargah T, M'rad R. El Younsi M, et al. Among authors: maazoul f. Eur J Med Genet. 2019 Sep;62(9):103550. doi: 10.1016/j.ejmg.2018.10.002. Epub 2018 Oct 10. Eur J Med Genet. 2019. PMID: 30315938

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