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

146 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.
Lee JYW, Hsu CK, Michael M, Nanda A, Liu L, McMillan JR, Pourreyron C, Takeichi T, Tolar J, Reid E, Hayday T, Blumen SC, Abu-Mouch S, Straussberg R, Basel-Vanagaite L, Barhum Y, Zouabi Y, Al-Ajmi H, Huang HY, Lin TC, Akiyama M, Lee JYY, McLean WHI, Simpson MA, Parsons M, McGrath JA. Lee JYW, et al. Among authors: mcmillan jr. Am J Hum Genet. 2017 Feb 2;100(2):364-370. doi: 10.1016/j.ajhg.2017.01.014. Am J Hum Genet. 2017. PMID: 28157540 Free PMC article.
Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome.
Petrof G, Nanda A, Howden J, Takeichi T, McMillan JR, Aristodemou S, Ozoemena L, Liu L, South AP, Pourreyron C, Dafou D, Proudfoot LE, Al-Ajmi H, Akiyama M, McLean WH, Simpson MA, Parsons M, McGrath JA. Petrof G, et al. Among authors: mcmillan jr. Am J Hum Genet. 2014 Sep 4;95(3):308-14. doi: 10.1016/j.ajhg.2014.08.001. Epub 2014 Aug 21. Am J Hum Genet. 2014. PMID: 25152456 Free PMC article.
Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR.
Campbell P, Morton PE, Takeichi T, Salam A, Roberts N, Proudfoot LE, Mellerio JE, Aminu K, Wellington C, Patil SN, Akiyama M, Liu L, McMillan JR, Aristodemou S, Ishida-Yamamoto A, Abdul-Wahab A, Petrof G, Fong K, Harnchoowong S, Stone KL, Harper JI, Irwin McLean WH, Simpson MA, Parsons M, McGrath JA. Campbell P, et al. Among authors: mcmillan jr. J Invest Dermatol. 2014 Oct;134(10):2570-2578. doi: 10.1038/jid.2014.164. Epub 2014 Apr 1. J Invest Dermatol. 2014. PMID: 24691054 Free PMC article.
Ichthyosis Prematurity Syndrome: From Fetus to Adulthood.
Lwin SM, Hsu CK, McMillan JR, Mellerio JE, McGrath JA. Lwin SM, et al. Among authors: mcmillan jr. JAMA Dermatol. 2016 Sep 1;152(9):1055-8. doi: 10.1001/jamadermatol.2016.1187. JAMA Dermatol. 2016. PMID: 27224495 No abstract available.
Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa.
Watt SA, Dayal JH, Wright S, Riddle M, Pourreyron C, McMillan JR, Kimble RM, Prisco M, Gartner U, Warbrick E, McLean WH, Leigh IM, McGrath JA, Salas-Alanis JC, Tolar J, South AP. Watt SA, et al. Among authors: mcmillan jr. PLoS One. 2015 Sep 18;10(9):e0137639. doi: 10.1371/journal.pone.0137639. eCollection 2015. PLoS One. 2015. PMID: 26380979 Free PMC article.
Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1.
Hsu CK, Liu L, Can PK, Kocatürk E, McMillan JR, Güngör Ş, Hürdoğan Ö, Sargan A, Degirmentepe EN, Lee JY, Simpson MA, McGrath JA. Hsu CK, et al. Among authors: mcmillan jr. J Dermatol Sci. 2016 Nov;84(2):210-212. doi: 10.1016/j.jdermsci.2016.08.011. Epub 2016 Aug 11. J Dermatol Sci. 2016. PMID: 27554337 No abstract available.
146 results