Smahi A - Search Results

1

Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation.

Ørstavik KH, Kristiansen M, Knudsen GP, Storhaug K, Vege A, Eiklid K, Abrahamsen TG, Smahi A, Steen-Johnsen J. Ørstavik KH, et al. Among authors: smahi a. Am J Med Genet A. 2006 Jan 1;140(1):31-9. doi: 10.1002/ajmg.a.31026. Am J Med Genet A. 2006. PMID: 16333836

2

A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia.

Wohlfart S, Söder S, Smahi A, Schneider H. Wohlfart S, et al. Among authors: smahi a. Am J Med Genet A. 2016 Jan;170A(1):249-53. doi: 10.1002/ajmg.a.37412. Epub 2015 Oct 5. Am J Med Genet A. 2016. PMID: 26440664

3

A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency.

Martinez-Pomar N, Munoz-Saa I, Heine-Suner D, Martin A, Smahi A, Matamoros N. Martinez-Pomar N, et al. Among authors: smahi a. Hum Genet. 2005 Dec;118(3-4):458-65. doi: 10.1007/s00439-005-0068-y. Epub 2005 Oct 14. Hum Genet. 2005. PMID: 16228229

4

Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene.

Mégarbané H, Cluzeau C, Bodemer C, Fraïtag S, Chababi-Atallah M, Mégarbané A, Smahi A. Mégarbané H, et al. Among authors: smahi a. Am J Med Genet A. 2008 Oct 15;146A(20):2657-62. doi: 10.1002/ajmg.a.32509. Am J Med Genet A. 2008. PMID: 18816645

5

A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations.

Aradhya S, Woffendin H, Jakins T, Bardaro T, Esposito T, Smahi A, Shaw C, Levy M, Munnich A, D'Urso M, Lewis RA, Kenwrick S, Nelson DL. Aradhya S, et al. Among authors: smahi a. Hum Mol Genet. 2001 Sep 15;10(19):2171-9. doi: 10.1093/hmg/10.19.2171. Hum Mol Genet. 2001. PMID: 11590134

6

The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.

Puel A, Reichenbach J, Bustamante J, Ku CL, Feinberg J, Döffinger R, Bonnet M, Filipe-Santos O, de Beaucoudrey L, Durandy A, Horneff G, Novelli F, Wahn V, Smahi A, Israel A, Niehues T, Casanova JL. Puel A, et al. Among authors: smahi a. Am J Hum Genet. 2006 Apr;78(4):691-701. doi: 10.1086/501532. Epub 2006 Feb 15. Am J Hum Genet. 2006. PMID: 16532398 Free PMC article.

7

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.

Döffinger R, Smahi A, Bessia C, Geissmann F, Feinberg J, Durandy A, Bodemer C, Kenwrick S, Dupuis-Girod S, Blanche S, Wood P, Rabia SH, Headon DJ, Overbeek PA, Le Deist F, Holland SM, Belani K, Kumararatne DS, Fischer A, Shapiro R, Conley ME, Reimund E, Kalhoff H, Abinun M, Munnich A, Israël A, Courtois G, Casanova JL. Döffinger R, et al. Among authors: smahi a. Nat Genet. 2001 Mar;27(3):277-85. doi: 10.1038/85837. Nat Genet. 2001. PMID: 11242109

8

Filamin (FLN1), plexin (SEX), major palmitoylated protein p55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2.

Aradhya S, Ahobila P, Lewis RA, Nelson DL, Esposito T, Ciccodicola A, Bardaro T, D'Urso M, Woffendin H, Kenwrick S, Smahi A, Heuertz S, Munnich A, Heiss NS, Poustka A, Chishti AH. Aradhya S, et al. Among authors: smahi a. Am J Med Genet. 2000 Sep 4;94(1):79-84. doi: 10.1002/1096-8628(20000904)94:1<79::aid-ajmg17>3.0.co;2-m. Am J Med Genet. 2000. PMID: 10982489 No abstract available.

9

Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.

Fusco F, Pescatore A, Bal E, Ghoul A, Paciolla M, Lioi MB, D'Urso M, Rabia SH, Bodemer C, Bonnefont JP, Munnich A, Miano MG, Smahi A, Ursini MV. Fusco F, et al. Among authors: smahi a. Hum Mutat. 2008 May;29(5):595-604. doi: 10.1002/humu.20739. Hum Mutat. 2008. PMID: 18350553

10

The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes.

Smahi A, Courtois G, Rabia SH, Döffinger R, Bodemer C, Munnich A, Casanova JL, Israël A. Smahi A, et al. Hum Mol Genet. 2002 Oct 1;11(20):2371-5. doi: 10.1093/hmg/11.20.2371. Hum Mol Genet. 2002. PMID: 12351572 Review.

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