Saad A - Search Results

1

Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

Dimassi S, Labalme A, Ville D, Calender A, Mignot C, Boutry-Kryza N, de Bellescize J, Rivier-Ringenbach C, Bourel-Ponchel E, Cheillan D, Simonet T, Maincent K, Rossi M, Till M, Mougou-Zerelli S, Edery P, Saad A, Heron D, des Portes V, Sanlaville D, Lesca G. Dimassi S, et al. Among authors: saad a. Clin Genet. 2016 Feb;89(2):198-204. doi: 10.1111/cge.12636. Epub 2015 Jul 30. Clin Genet. 2016. PMID: 26138355

2

Clinical and molecular characterization of a combined 17p13.3 microdeletion with partial monosomy 21q21.3 in a 26-year-old man.

Hannachi H, Mougou-Zerelli S, BenAbdallah I, Mama N, Hamdi I, Labalme A, Elghezal H, Sanlaville D, Saad A. Hannachi H, et al. Among authors: saad a. Cytogenet Genome Res. 2011;135(2):102-10. doi: 10.1159/000330880. Epub 2011 Aug 26. Cytogenet Genome Res. 2011. PMID: 21876345

3

NOBOX is a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency.

Bouali N, Francou B, Bouligand J, Lakhal B, Malek I, Kammoun M, Warszawski J, Mougou S, Saad A, Guiochon-Mantel A. Bouali N, et al. Among authors: saad a. Clin Genet. 2016 May;89(5):608-13. doi: 10.1111/cge.12750. Epub 2016 Mar 4. Clin Genet. 2016. PMID: 26848058

4

Sperm fluorescent in situ hybridisation study of interchromosomal effect in six Tunisian carriers of reciprocal and Robertsonian translocations.

Hajlaoui A, Slimani W, Kammoun M, Sallem A, Braham S, Bibi M, Saad A, Mougou-Zerelli S. Hajlaoui A, et al. Among authors: saad a. Andrologia. 2018 Jan 15. doi: 10.1111/and.12949. Online ahead of print. Andrologia. 2018. PMID: 29336050

5

Molecular and phenotypic characterization of ring chromosome 22 in two unrelated patients.

Hannachi H, Mougou S, Benabdallah I, Soayh N, Kahloul N, Gaddour N, Le Lorc'h M, Sanlaville D, El Ghezal H, Saad A. Hannachi H, et al. Among authors: saad a. Cytogenet Genome Res. 2013;140(1):1-11. doi: 10.1159/000350785. Epub 2013 Apr 27. Cytogenet Genome Res. 2013. PMID: 23635516

6

Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients.

Lakhal B, Braham R, Berguigua R, Bouali N, Zaouali M, Chaieb M, Veitia RA, Saad A, Elghezal H. Lakhal B, et al. Among authors: saad a. Clin Genet. 2010 Aug;78(2):181-5. doi: 10.1111/j.1399-0004.2009.01359.x. Epub 2009 Dec 2. Clin Genet. 2010. PMID: 20345472

7

A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect.

Mili A, Ben Charfeddine I, Amara A, Mamaï O, Adala L, Ben Lazreg T, Bouguila J, Saad A, Limem K, Gribaa M. Mili A, et al. Among authors: saad a. Clin Genet. 2012 Dec;82(6):534-9. doi: 10.1111/j.1399-0004.2011.01806.x. Epub 2011 Nov 23. Clin Genet. 2012. PMID: 22035446

8

Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2.

Laissue P, Lakhal B, Benayoun BA, Dipietromaria A, Braham R, Elghezal H, Philibert P, Saâd A, Sultan C, Fellous M, Veitia RA. Laissue P, et al. Among authors: saad a. J Med Genet. 2009 Jul;46(7):455-7. doi: 10.1136/jmg.2008.065086. Epub 2009 May 7. J Med Genet. 2009. PMID: 19429596 Free article.

9

Novel human pathological mutations. Gene symbol: SRY. Disease: XY sex reversal.

Ravel C, Lakhal B, Elghezal H, Braham R, Saad A, Bashamboo A, Siffroi JP, McElreavey K, Christin-Maitre S. Ravel C, et al. Among authors: saad a. Hum Genet. 2009 Aug;126(2):333. Hum Genet. 2009. PMID: 19694000 No abstract available.

10

Meiotic segregation and sperm DNA fragmentation in Tunisian men with dysplasia of the fibrous sheath (DFS) associated with head abnormalities.

Ghedir H, Mehri A, Mehdi M, Brahem S, Saad A, Ibala-Romdhane S. Ghedir H, et al. Among authors: saad a. J Assist Reprod Genet. 2014 Sep;31(9):1167-74. doi: 10.1007/s10815-014-0290-4. Epub 2014 Jul 8. J Assist Reprod Genet. 2014. PMID: 25001634 Free PMC article.

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