McMillan JR - Search Results

1

Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis.

Pohler E, Cunningham F, Sandilands A, Cole C, Digby S, McMillan JR, Aristodemou S, McGrath JA, Smith FJ, McLean WH, Munro CS, Zamiri M. Pohler E, et al. Among authors: mcmillan jr. Br J Dermatol. 2015 Nov;173(5):1291-4. doi: 10.1111/bjd.13895. Epub 2015 Aug 22. Br J Dermatol. 2015. PMID: 25965869 Free PMC article. No abstract available.

2

Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family.

Takeichi T, Nanda A, Aristodemou S, McMillan JR, Lee J, Akiyama M, Al-Ajmi H, Simpson MA, McGrath JA. Takeichi T, et al. Among authors: mcmillan jr. Br J Dermatol. 2015;172(5):1407-11. doi: 10.1111/bjd.13473. Epub 2015 Mar 7. Br J Dermatol. 2015. PMID: 25308318

3

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.

4

Recessive epidermolysis bullosa simplex associated with plectin mutations: infantile respiratory complications in two unrelated cases.

Mellerio JE, Smith FJ, McMillan JR, McLean WH, McGrath JA, Morrison GA, Tierney P, Albert DM, Wiche G, Leigh IM, Geddes JF, Lane EB, Uitto J, Eady RA. Mellerio JE, et al. Among authors: mcmillan jr. Br J Dermatol. 1997 Dec;137(6):898-906. Br J Dermatol. 1997. PMID: 9470905

5

Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease.

Mellerio JE, Pulkkinen L, McMillan JR, Lake BD, Horn HM, Tidman MJ, Harper JI, McGrath JA, Uitto J, Eady RA. Mellerio JE, et al. Among authors: mcmillan jr. Br J Dermatol. 1998 Nov;139(5):862-71. doi: 10.1046/j.1365-2133.1998.02515.x. Br J Dermatol. 1998. PMID: 9892956

6

Mutations in EXPH5 result in autosomal recessive inherited skin fragility.

Liu L, Mellerio JE, Martinez AE, McMillan JR, Aristodemou S, Parsons M, McGrath JA. Liu L, et al. Among authors: mcmillan jr. Br J Dermatol. 2014 Jan;170(1):196-9. doi: 10.1111/bjd.12723. Br J Dermatol. 2014. PMID: 24443915

7

Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory.

Takeichi T, Liu L, Fong K, Ozoemena L, McMillan JR, Salam A, Campbell P, Akiyama M, Mellerio JE, McLean WH, Simpson MA, McGrath JA. Takeichi T, et al. Among authors: mcmillan jr. Br J Dermatol. 2015 Jan;172(1):94-100. doi: 10.1111/bjd.13190. Epub 2014 Nov 19. Br J Dermatol. 2015. PMID: 24947307

8

Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait.

Takeichi T, Nanda A, Liu L, Aristodemou S, McMillan JR, Sugiura K, Akiyama M, Al-Ajmi H, Simpson MA, McGrath JA. Takeichi T, et al. Among authors: mcmillan jr. Br J Dermatol. 2015 Feb;172(2):527-31. doi: 10.1111/bjd.13294. Epub 2014 Dec 30. Br J Dermatol. 2015. PMID: 25059916

9

Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis.

Takeichi T, Liu L, Abdul-Wahab A, McMillan JR, Stone KL, Akiyama M, Simpson MA, Parsons M, Mellerio JE, McGrath JA. Takeichi T, et al. Among authors: mcmillan jr. J Invest Dermatol. 2016 Oct;136(10):2095-2098. doi: 10.1016/j.jid.2016.06.016. Epub 2016 Jun 25. J Invest Dermatol. 2016. PMID: 27349861 Free article. No abstract available.

10

Ultrastructural clues to genetic disorders of skin: the dermal-epidermal junction.

Eady RA, McGrath JA, McMillan JR. Eady RA, et al. Among authors: mcmillan jr. J Invest Dermatol. 1994 Nov;103(5 Suppl):13S-18S. doi: 10.1111/1523-1747.ep12398895. J Invest Dermatol. 1994. PMID: 7963675 Free article. Review.

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