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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

396 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Genetic variation in schlafen genes in a patient with a recapitulation of the murine Elektra phenotype.
Recher M, Karjalainen-Lindsberg ML, Lindlöf M, Söderlund-Venermo M, Lanzi G, Väisänen E, Kumar A, Sadeghi M, Berger CT, Alitalo T, Anttila P, Kolehmainen M, Franssila R, Chen T, Siitonen S, Delmonte OM, Walter JE, Pessach I, Hess C, Simpson MA, Navarini AA, Giliani S, Hedman K, Seppänen M, Notarangelo LD. Recher M, et al. Among authors: simpson ma. J Allergy Clin Immunol. 2014 May;133(5):1462-5, 1465.e1-5. doi: 10.1016/j.jaci.2013.10.052. Epub 2013 Dec 24. J Allergy Clin Immunol. 2014. PMID: 24373355 No abstract available.
Generalized pustular eruptions: time to adapt the disease taxonomy to the genetic architecture?
Navarini AA, Valeyrie-Allanore L, Setta-Kaffetzi N, Barker JN, Capon F, Creamer D, Roujeau JC, Sekula P, Simpson MA, Trembath RC, Mockenhaupt M, Smith CH. Navarini AA, et al. Among authors: simpson ma. J Invest Dermatol. 2014 Feb;134(2):580-581. doi: 10.1038/jid.2013.349. Epub 2013 Aug 16. J Invest Dermatol. 2014. PMID: 23955072 Free article. No abstract available.
Genetic architecture of acne vulgaris.
Lichtenberger R, Simpson MA, Smith C, Barker J, Navarini AA. Lichtenberger R, et al. Among authors: simpson ma. J Eur Acad Dermatol Venereol. 2017 Dec;31(12):1978-1990. doi: 10.1111/jdv.14385. Epub 2017 Sep 24. J Eur Acad Dermatol Venereol. 2017. PMID: 28593717 Review.
Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne.
Petridis C, Navarini AA, Dand N, Saklatvala J, Baudry D, Duckworth M, Allen MH, Curtis CJ, Lee SH, Burden AD, Layton A, Bataille V, Pink AE; Acne Genetic Study Group; Carlavan I, Voegel JJ, Spector TD, Trembath RC, McGrath JA, Smith CH, Barker JN, Simpson MA. Petridis C, et al. Among authors: simpson ma. Nat Commun. 2018 Dec 12;9(1):5075. doi: 10.1038/s41467-018-07459-5. Nat Commun. 2018. PMID: 30542056 Free PMC article.
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR BioResource; Warnatz K, Grimbacher B; NIHR BioResource. Lorenzini T, et al. J Allergy Clin Immunol. 2020 Oct;146(4):901-911. doi: 10.1016/j.jaci.2019.11.051. Epub 2020 Apr 9. J Allergy Clin Immunol. 2020. PMID: 32278790 Free PMC article.
Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypes.
Setta-Kaffetzi N, Navarini AA, Patel VM, Pullabhatla V, Pink AE, Choon SE, Allen MA, Burden AD, Griffiths CE, Seyger MM, Kirby B, Trembath RC, Simpson MA, Smith CH, Capon F, Barker JN. Setta-Kaffetzi N, et al. Among authors: simpson ma. J Invest Dermatol. 2013 May;133(5):1366-9. doi: 10.1038/jid.2012.490. Epub 2013 Jan 10. J Invest Dermatol. 2013. PMID: 23303454 Free article. No abstract available.
Rare variations in IL36RN in severe adverse drug reactions manifesting as acute generalized exanthematous pustulosis.
Navarini AA, Valeyrie-Allanore L, Setta-Kaffetzi N, Barker JN, Capon F, Creamer D, Roujeau JC, Sekula P, Simpson MA, Trembath RC, Mockenhaupt M, Smith CH. Navarini AA, et al. Among authors: simpson ma. J Invest Dermatol. 2013 Jul;133(7):1904-7. doi: 10.1038/jid.2013.44. Epub 2013 Jan 28. J Invest Dermatol. 2013. PMID: 23358093 Free article. No abstract available.
AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking.
Setta-Kaffetzi N, Simpson MA, Navarini AA, Patel VM, Lu HC, Allen MH, Duckworth M, Bachelez H, Burden AD, Choon SE, Griffiths CE, Kirby B, Kolios A, Seyger MM, Prins C, Smahi A, Trembath RC, Fraternali F, Smith CH, Barker JN, Capon F. Setta-Kaffetzi N, et al. Among authors: simpson ma. Am J Hum Genet. 2014 May 1;94(5):790-7. doi: 10.1016/j.ajhg.2014.04.005. Am J Hum Genet. 2014. PMID: 24791904 Free PMC article.
Acne and Telomere Length: A New Spectrum between Senescence and Apoptosis Pathways.
Ribero S, Sanna M, Visconti A, Navarini A, Aviv A, Glass D, Spector TD, Smith C, Simpson M, Barker J, Mangino M, Falchi M, Bataille V. Ribero S, et al. J Invest Dermatol. 2017 Feb;137(2):513-515. doi: 10.1016/j.jid.2016.09.014. Epub 2016 Sep 28. J Invest Dermatol. 2017. PMID: 27693374 Free article. No abstract available.
396 results