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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1994 1
1995 4
1996 1
1997 3
1998 1
1999 1
2000 2
2002 2
2003 2
2004 1
2006 1
2007 2
2008 1
2009 7
2010 6
2011 13
2012 10
2013 8
2014 6
2015 8
2016 7
2017 7
2018 3
2019 5
2020 9
2021 4
2023 1
2024 2

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106 results

Results by year

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Page 1
Cantú syndrome with coexisting familial pituitary adenoma.
Marques P, Spencer R, Morrison PJ, Carr IM, Dang MN, Bonthron DT, Hunter S, Korbonits M. Marques P, et al. Among authors: carr im. Endocrine. 2018 Mar;59(3):677-684. doi: 10.1007/s12020-017-1497-9. Epub 2018 Jan 11. Endocrine. 2018. PMID: 29327300 Free PMC article.
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.
Poulter JA, Al-Araimi M, Conte I, van Genderen MM, Sheridan E, Carr IM, Parry DA, Shires M, Carrella S, Bradbury J, Khan K, Lakeman P, Sergouniotis PI, Webster AR, Moore AT, Pal B, Mohamed MD, Venkataramana A, Ramprasad V, Shetty R, Saktivel M, Kumaramanickavel G, Tan A, Mackey DA, Hewitt AW, Banfi S, Ali M, Inglehearn CF, Toomes C. Poulter JA, et al. Among authors: carr im. Am J Hum Genet. 2013 Dec 5;93(6):1143-50. doi: 10.1016/j.ajhg.2013.11.002. Epub 2013 Nov 27. Am J Hum Genet. 2013. PMID: 24290379 Free PMC article. Review.
Autozygosity mapping with exome sequence data.
Carr IM, Bhaskar S, O'Sullivan J, Aldahmesh MA, Shamseldin HE, Markham AF, Bonthron DT, Black G, Alkuraya FS. Carr IM, et al. Hum Mutat. 2013 Jan;34(1):50-6. doi: 10.1002/humu.22220. Epub 2012 Oct 22. Hum Mutat. 2013. PMID: 23090942
IL-36 Promotes Systemic IFN-I Responses in Severe Forms of Psoriasis.
Catapano M, Vergnano M, Romano M, Mahil SK, Choon SE, Burden AD, Young HS, Carr IM, Lachmann HJ, Lombardi G, Smith CH, Ciccarelli FD, Barker JN, Capon F. Catapano M, et al. Among authors: carr im. J Invest Dermatol. 2020 Apr;140(4):816-826.e3. doi: 10.1016/j.jid.2019.08.444. Epub 2019 Sep 17. J Invest Dermatol. 2020. PMID: 31539532 Free PMC article.
Characterization and Genomic Localization of a SMAD4 Processed Pseudogene.
Watson CM, Camm N, Crinnion LA, Antanaviciute A, Adlard J, Markham AF, Carr IM, Charlton R, Bonthron DT. Watson CM, et al. Among authors: carr im. J Mol Diagn. 2017 Nov;19(6):933-940. doi: 10.1016/j.jmoldx.2017.08.002. Epub 2017 Sep 1. J Mol Diagn. 2017. PMID: 28867604 Free article.
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis.
Diggle CP, Parry DA, Logan CV, Laissue P, Rivera C, Restrepo CM, Fonseca DJ, Morgan JE, Allanore Y, Fontenay M, Wipff J, Varret M, Gibault L, Dalantaeva N, Korbonits M, Zhou B, Yuan G, Harifi G, Cefle K, Palanduz S, Akoglu H, Zwijnenburg PJ, Lichtenbelt KD, Aubry-Rozier B, Superti-Furga A, Dallapiccola B, Accadia M, Brancati F, Sheridan EG, Taylor GR, Carr IM, Johnson CA, Markham AF, Bonthron DT. Diggle CP, et al. Among authors: carr im. Hum Mutat. 2012 Aug;33(8):1175-81. doi: 10.1002/humu.22111. Epub 2012 May 29. Hum Mutat. 2012. PMID: 22553128
RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA Deficiency.
Watson CM, Stockdale C, Berry I, Crinnion LA, Carr IM, Cant A, Bonthron DT, Savic S. Watson CM, et al. Among authors: carr im. J Clin Immunol. 2019 Apr;39(3):270-273. doi: 10.1007/s10875-019-00625-4. Epub 2019 Apr 16. J Clin Immunol. 2019. PMID: 30989467 Free article. No abstract available.
106 results