Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

108 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Unique subungueal keratoacanthoma revealing incontinentia pigmenti.
Ferneiny M, Hadj-Rabia S, Regnier S, Ortonne N, Smahi A, Steffann J, Bonnefont JP, Fraitag S, Chosidow O, Bodemer C. Ferneiny M, et al. Among authors: steffann j. J Eur Acad Dermatol Venereol. 2016 Aug;30(8):1401-3. doi: 10.1111/jdv.13245. Epub 2015 Sep 21. J Eur Acad Dermatol Venereol. 2016. PMID: 26387562 No abstract available.
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: steffann j. 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
Severe neuroimaging anomalies are usually associated with random X inactivation in leucocytes circulating DNA in X-linked dominant Incontinentia Pigmenti.
Dangouloff-Ros V, Hadj-Rabia S, Oliveira Santos J, Bal E, Desguerre I, Kossorotoff M, An I, Smahi A, Bodemer C, Munnich A, Steffann J, Boddaert N. Dangouloff-Ros V, et al. Among authors: steffann j. Mol Genet Metab. 2017 Nov;122(3):140-144. doi: 10.1016/j.ymgme.2017.07.001. Epub 2017 Jul 10. Mol Genet Metab. 2017. PMID: 28711407
The challenging management of a series of 43 infants with Netherton syndrome: unexpected complications and novel mutations.
Bellon N, Hadj-Rabia S, Moulin F, Lambe C, Lezmi G, Charbit-Henrion F, Alby C, Le Saché-de Peufeilhoux L, Leclerc-Mercier S, Hadchouel A, Steffann J, Hovnanian A, Lapillonne A, Bodemer C. Bellon N, et al. Among authors: steffann j. Br J Dermatol. 2021 Mar;184(3):532-537. doi: 10.1111/bjd.19265. Epub 2020 Sep 10. Br J Dermatol. 2021. PMID: 32479644
Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti.
Bodemer C, Diociaiuti A, Hadj-Rabia S, Robert MP, Desguerre I, Manière MC, de la Dure-Molla M, De Liso P, Federici M, Galeotti A, Fusco F, Fraitag S, Demily C, Taieb C, Valeria Ursini M, El Hachem M, Steffann J. Bodemer C, et al. Among authors: steffann j. J Eur Acad Dermatol Venereol. 2020 Jul;34(7):1415-1424. doi: 10.1111/jdv.16403. J Eur Acad Dermatol Venereol. 2020. PMID: 32678511 Review.
Tubulin mutations in human neurodevelopmental disorders.
Maillard C, Roux CJ, Charbit-Henrion F, Steffann J, Laquerriere A, Quazza F, Buisson NB. Maillard C, et al. Among authors: steffann j. Semin Cell Dev Biol. 2023 Mar 15;137:87-95. doi: 10.1016/j.semcdb.2022.07.009. Epub 2022 Jul 30. Semin Cell Dev Biol. 2023. PMID: 35915025 Review.
108 results