Smahi A - Search Results

1

ARP-T1-associated Bazex-Dupré-Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies.

Park HS, Papanastasi E, Blanchard G, Chiticariu E, Bachmann D, Plomann M, Morice-Picard F, Vabres P, Smahi A, Huber M, Pich C, Hohl D. Park HS, et al. Among authors: smahi a. Commun Biol. 2021 May 10;4(1):544. doi: 10.1038/s42003-021-02054-9. Commun Biol. 2021. PMID: 33972689 Free PMC article.

2

Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.

Bal E, Park HS, Belaid-Choucair Z, Kayserili H, Naville M, Madrange M, Chiticariu E, Hadj-Rabia S, Cagnard N, Kuonen F, Bachmann D, Huber M, Le Gall C, Côté F, Hanein S, Rosti RÖ, Aslanger AD, Waisfisz Q, Bodemer C, Hermine O, Morice-Picard F, Labeille B, Caux F, Mazereeuw-Hautier J, Philip N, Levy N, Taieb A, Avril MF, Headon DJ, Gyapay G, Magnaldo T, Fraitag S, Crollius HR, Vabres P, Hohl D, Munnich A, Smahi A. Bal E, et al. Among authors: smahi a. Nat Med. 2017 Oct;23(10):1226-1233. doi: 10.1038/nm.4368. Epub 2017 Sep 4. Nat Med. 2017. PMID: 28869610 Free article.

3

Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti.

Bal E, Laplantine E, Hamel Y, Dubosclard V, Boisson B, Pescatore A, Picard C, Hadj-Rabia S, Royer G, Steffann J, Bonnefont JP, Ursini VM, Vabres P, Munnich A, Casanova JL, Bodemer C, Weil R, Agou F, Smahi A. Bal E, et al. Among authors: smahi a. J Allergy Clin Immunol. 2017 Dec;140(6):1671-1682.e2. doi: 10.1016/j.jaci.2016.11.056. Epub 2017 Feb 27. J Allergy Clin Immunol. 2017. PMID: 28249776

4

Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease.

Hadj-Rabia S, Baala L, Vabres P, Hamel-Teillac D, Jacquemin E, Fabre M, Lyonnet S, De Prost Y, Munnich A, Hadchouel M, Smahi A. Hadj-Rabia S, et al. Among authors: smahi a. Gastroenterology. 2004 Nov;127(5):1386-90. doi: 10.1053/j.gastro.2004.07.022. Gastroenterology. 2004. PMID: 15521008

5

The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28.

Smahi A, Hyden-Granskog C, Peterlin B, Vabres P, Heuertz S, Fulchignoni-Lataud MC, Dahl N, Labrune P, Le Marec B, Piussan C, et al. Smahi A, et al. Hum Mol Genet. 1994 Feb;3(2):273-8. doi: 10.1093/hmg/3.2.273. Hum Mol Genet. 1994. PMID: 8004094

6

Super-resolution microscopy reveals a preformed NEMO lattice structure that is collapsed in incontinentia pigmenti.

Scholefield J, Henriques R, Savulescu AF, Fontan E, Boucharlat A, Laplantine E, Smahi A, Israël A, Agou F, Mhlanga MM. Scholefield J, et al. Among authors: smahi a. Nat Commun. 2016 Sep 2;7:12629. doi: 10.1038/ncomms12629. Nat Commun. 2016. PMID: 27586688 Free PMC article.

7

Linear and whorled nevoid hypermelanosis with bilateral giant cerebral aneurysms.

Mégarbané A, Vabres P, Slaba S, Smahi A, Loeys B, Okais N. Mégarbané A, et al. Among authors: smahi a. Am J Med Genet. 2002 Sep 15;112(1):95-8. doi: 10.1002/ajmg.10666. Am J Med Genet. 2002. PMID: 12239729

8

Is it relevant to use an interleukin-1-inhibiting strategy for the treatment of patients with deficiency of interleukin-36 receptor antagonist?

Tauber M, Viguier M, Le Gall C, Smahi A, Bachelez H. Tauber M, et al. Among authors: smahi a. Br J Dermatol. 2014 May;170(5):1198-9. doi: 10.1111/bjd.12805. Br J Dermatol. 2014. PMID: 24641215 No abstract available.

9

Inherited disorders of NF-kappaB-mediated immunity in man.

Puel A, Picard C, Ku CL, Smahi A, Casanova JL. Puel A, et al. Among authors: smahi a. Curr Opin Immunol. 2004 Feb;16(1):34-41. doi: 10.1016/j.coi.2003.11.013. Curr Opin Immunol. 2004. PMID: 14734108 Review.

10

Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms.

Fusco F, Paciolla M, Napolitano F, Pescatore A, D'Addario I, Bal E, Lioi MB, Smahi A, Miano MG, Ursini MV. Fusco F, et al. Among authors: smahi a. Hum Mol Genet. 2012 Mar 15;21(6):1260-71. doi: 10.1093/hmg/ddr556. Epub 2011 Nov 25. Hum Mol Genet. 2012. PMID: 22121116

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

76 results

Search Page