Sakka R - Search Results

1

An unusual familial Xp22.12 microduplication including EIF1AX: A novel candidate dosage-sensitive gene for premature ovarian insufficiency.

Sakka R, Abdelhedi F, Sellami H, Pichon B, Lajmi Y, Mnif M, Kebaili S, Derbel R, Kamoun H, Gdoura R, Delbaere A, Desir J, Abramowicz M, Vialard F, Dupont JM, Ammar-Keskes L. Sakka R, et al. Eur J Med Genet. 2022 Nov;65(11):104613. doi: 10.1016/j.ejmg.2022.104613. Epub 2022 Sep 14. Eur J Med Genet. 2022. PMID: 36113757

2

Relationship between nuclear DNA fragmentation, mitochondrial DNA damage and standard sperm parameters in spermatozoa of infertile patients with leukocytospermia.

Derbel R, Sellami H, Sakka R, Ben Slima A, Mkaddem I, Gdoura R, Mcelreavey E, Ammar-Keskes L. Derbel R, et al. Among authors: sakka r. J Gynecol Obstet Hum Reprod. 2021 May;50(5):102101. doi: 10.1016/j.jogoh.2021.102101. Epub 2021 Feb 22. J Gynecol Obstet Hum Reprod. 2021. PMID: 33631406

3

Phenotypic variability and management of patients with mosaic monosomy X and Y chromosome material: a case series.

Fredj MB, Messaoud M, Youssef SB, Mani S, Laaribi S, Sakka R, Hmida HB, Ksiaa A, Mekki M, Belghith M, Sahnoun L. Fredj MB, et al. Among authors: sakka r. Ital J Pediatr. 2024 May 7;50(1):93. doi: 10.1186/s13052-024-01618-9. Ital J Pediatr. 2024. PMID: 38715086 Free PMC article.

4

Mandibuloacral dysplasia type A in five tunisian patients.

R S, H M, M T, A A, M G, I H, E K, K M, F M, R M. R S, et al. Eur J Med Genet. 2021 Feb;64(2):104138. doi: 10.1016/j.ejmg.2021.104138. Epub 2021 Jan 8. Eur J Med Genet. 2021. PMID: 33422685

5

Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family.

Lahbib S, Trabelsi M, Dallali H, Sakka R, Bourourou R, Kefi R, Mrad R, Abdelhak S, Gaddour N. Lahbib S, et al. Among authors: sakka r. Mol Biol Rep. 2019 Aug;46(4):4185-4193. doi: 10.1007/s11033-019-04869-6. Epub 2019 May 16. Mol Biol Rep. 2019. PMID: 31098807

6

Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome.

Ghedira N, Lagarde A, Ben Ameur K, Elouej S, Sakka R, Kerkeni E, Chioukh FZ, Olschwang S, Desvignes JP, Abdelhak S, Delague V, Lévy N, Monastiri K, De Sandre-Giovannoli A. Ghedira N, et al. Among authors: sakka r. BMC Pediatr. 2018 Aug 29;18(1):286. doi: 10.1186/s12887-018-1259-8. BMC Pediatr. 2018. PMID: 30157809 Free PMC article.

7

Poikiloderma with neutropenia in a Tunisian patient with a novel C16orf57 gene mutation.

Sakka R, Mahjoub B, Kerkeni E, Werdani A, Boussoffara R, Ben Cheikh H, M'rad R, Sfar MT. Sakka R, et al. Pediatr Blood Cancer. 2018 Sep;65(9):e27262. doi: 10.1002/pbc.27262. Epub 2018 May 24. Pediatr Blood Cancer. 2018. PMID: 29797650

8

Duodenal Atresia Associated with Apple Peel Atresia and Situs Inversus Abdominus: A Case Report.

Ben Hamida H, Hadj Salem R, Ben Ameur K, Rassas A, Chioukh FZ, Sakka R, Kechiche N, Bizid M, Sahnoun L, Monastiri K. Ben Hamida H, et al. Among authors: sakka r. J Neonatal Surg. 2016 Oct 10;5(4):60. doi: 10.21699/jns.v5i4.420. eCollection 2016 Oct-Dec. J Neonatal Surg. 2016. PMID: 27896168 Free PMC article.

9

[Marshall syndrome: Clinical, radiological and genetical features of a Tunisian family].

Sakka R, Kerkeni E, Chaabouni M, Chioukh FZ, Ben Amor S, M'rad R, Ben Yahia S, Chaabouni H, Monastiri K. Sakka R, et al. Tunis Med. 2015 Mar;93(3):170-4. Tunis Med. 2015. PMID: 26367406 French.

10

Sanjad-Sakati syndrome in a Tunisian child.

Kerkeni E, Sakka R, Sfar S, Bouaziz S, Ghedira N, Ben Ameur K, Ben Hmida H, Chioukh FZ, Ghédira ES, Gribaa M, Monastiri K. Kerkeni E, et al. Among authors: sakka r. Arch Pediatr. 2015 Sep;22(9):951-5. doi: 10.1016/j.arcped.2015.06.003. Epub 2015 Jul 29. Arch Pediatr. 2015. PMID: 26231322

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