Fakhfakh F - Search Results

1

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis.

Marrakchi S, Guigue P, Renshaw BR, Puel A, Pei XY, Fraitag S, Zribi J, Bal E, Cluzeau C, Chrabieh M, Towne JE, Douangpanya J, Pons C, Mansour S, Serre V, Makni H, Mahfoudh N, Fakhfakh F, Bodemer C, Feingold J, Hadj-Rabia S, Favre M, Genin E, Sahbatou M, Munnich A, Casanova JL, Sims JE, Turki H, Bachelez H, Smahi A. Marrakchi S, et al. Among authors: fakhfakh f. N Engl J Med. 2011 Aug 18;365(7):620-8. doi: 10.1056/NEJMoa1013068. N Engl J Med. 2011. PMID: 21848462 Free article.

2

[Determination of the frequency of the A2m (2) allele of immunoglobin A in the Tunisian population by RFLP analysis].

Fakhfakh F, Rouis S, Makni H, Ayadi H. Fakhfakh F, et al. Rev Fr Transfus Hemobiol. 1991 Dec;34(6):441-7. doi: 10.1016/s1140-4639(05)80138-8. Rev Fr Transfus Hemobiol. 1991. PMID: 1685319 French.

3

Analysis of immunoglobulin VH and TCR cbeta polymorphisms in a large family with thyroid autoimmune disorder.

Fakhfakh F, Maalej A, Makni H, Abid M, Jouida J, Zouali M, Ayadi H. Fakhfakh F, et al. Exp Clin Immunogenet. 1999;16(4):185-91. doi: 10.1159/000019110. Exp Clin Immunogenet. 1999. PMID: 10575272

4

Association study of human leukocyte antigen-DRB1 alleles with rheumatoid arthritis in south Tunisian patients.

Ben Hamad M, Mahfoudh N, Marzouk S, Kammoun A, Gaddour L, Hakim F, Fakhfakh F, Bahloul Z, Makni H, Maalej A. Ben Hamad M, et al. Among authors: fakhfakh f. Clin Rheumatol. 2012 Jun;31(6):937-42. doi: 10.1007/s10067-012-1954-z. Epub 2012 Feb 18. Clin Rheumatol. 2012. PMID: 22349877

5

Clinical and laboratory findings in 8 patients with Bloom's syndrome.

Masmoudi A, Marrakchi S, Kamoun H, Chaaben H, Ben Salah G, Ben Salah R, Fakhfakh F, Zahaf A, Turki H. Masmoudi A, et al. Among authors: fakhfakh f. J Dermatol Case Rep. 2012 Mar 27;6(1):29-33. doi: 10.3315/jdcr.2012.1086. J Dermatol Case Rep. 2012. PMID: 22514588 Free PMC article.

6

Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene.

Louhichi N, Hadjsalem I, Marrakchi S, Trabelsi F, Masmoudi A, Turki H, Fakhfakh F. Louhichi N, et al. Among authors: fakhfakh f. Mol Biol Rep. 2013 Mar;40(3):2527-32. doi: 10.1007/s11033-012-2333-1. Epub 2012 Nov 29. Mol Biol Rep. 2013. PMID: 23192619 Free PMC article.

7

Chromosomal instability associated with a novel BLM frameshift mutation (c.1980-1982delAA) in two unrelated Tunisian families with Bloom syndrome.

Ben Salah G, Salem IH, Masmoudi A, Ben Rhouma B, Turki H, Fakhfakh F, Ayadi H, Kamoun H. Ben Salah G, et al. Among authors: fakhfakh f. J Eur Acad Dermatol Venereol. 2014 Oct;28(10):1318-23. doi: 10.1111/jdv.12279. Epub 2013 Oct 1. J Eur Acad Dermatol Venereol. 2014. PMID: 24118499

8

A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members.

Ben Salah G, Hadj Salem I, Masmoudi A, Kallabi F, Turki H, Fakhfakh F, Ayadi H, Kamoun H. Ben Salah G, et al. Among authors: fakhfakh f. Mol Biol Rep. 2014 Nov;41(11):7373-80. doi: 10.1007/s11033-014-3624-5. Epub 2014 Aug 17. Mol Biol Rep. 2014. PMID: 25129257

9

Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene.

Louhichi N, Bahloul E, Marrakchi S, Othman HB, Triki C, Aloulou K, Trabelsi L, Mahfouth N, Ayadi-Mnif Z, Keskes L, Fakhfakh F, Turki H. Louhichi N, et al. Among authors: fakhfakh f. Orphanet J Rare Dis. 2019 May 22;14(1):112. doi: 10.1186/s13023-019-1095-4. Orphanet J Rare Dis. 2019. PMID: 31118107 Free PMC article.

10

Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicity.

Laadhar S, Ben Mansour R, Marrakchi S, Miled N, Ennouri M, Fischer J, Kaddechi MA, Turki H, Fakhfakh F. Laadhar S, et al. Among authors: fakhfakh f. Mol Genet Genomic Med. 2020 Mar;8(3):e1104. doi: 10.1002/mgg3.1104. Epub 2019 Dec 26. Mol Genet Genomic Med. 2020. PMID: 31876100 Free PMC article.

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