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Coagulation Factor XIII-A Subunit Missense Mutation in the Pathobiology of Autosomal Dominant Multiple Dermatofibromas.
Supsrisunjai C, Hsu CK, Michael M, Duval C, Lee JYW, Yang HS, Huang HY, Chaikul T, Onoufriadis A, Steiner RA, Ariëns RAS, Sarig O, Sprecher E, Eskin-Schwartz M, Samlaska C, Simpson MA, Calonje E, Parsons M, McGrath JA. Supsrisunjai C, et al. Among authors: onoufriadis a. J Invest Dermatol. 2020 Mar;140(3):624-635.e7. doi: 10.1016/j.jid.2019.08.441. Epub 2019 Sep 4. J Invest Dermatol. 2020. PMID: 31493396 Free article.
Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.
Ostergaard P, Simpson MA, Brice G, Mansour S, Connell FC, Onoufriadis A, Child AH, Hwang J, Kalidas K, Mortimer PS, Trembath R, Jeffery S. Ostergaard P, et al. Among authors: onoufriadis a. J Med Genet. 2011 Apr;48(4):251-5. doi: 10.1136/jmg.2010.085563. Epub 2011 Jan 25. J Med Genet. 2011. PMID: 21266381
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
Ostergaard P, Simpson MA, Mendola A, Vasudevan P, Connell FC, van Impel A, Moore AT, Loeys BL, Ghalamkarpour A, Onoufriadis A, Martinez-Corral I, Devery S, Leroy JG, van Laer L, Singer A, Bialer MG, McEntagart M, Quarrell O, Brice G, Trembath RC, Schulte-Merker S, Makinen T, Vikkula M, Mortimer PS, Mansour S, Jeffery S. Ostergaard P, et al. Among authors: onoufriadis a. Am J Hum Genet. 2012 Feb 10;90(2):356-62. doi: 10.1016/j.ajhg.2011.12.018. Epub 2012 Jan 26. Am J Hum Genet. 2012. PMID: 22284827 Free PMC article.
Tissue and Circulating MicroRNA Co-expression Analysis Shows Potential Involvement of miRNAs in the Pathobiology of Frontal Fibrosing Alopecia.
Tziotzios C, Ainali C, Holmes S, Cunningham F, Lwin SM, Palamaras I, Bhargava K, Rymer J, Stefanato CM, Kirkpatrick N, Vano-Galvan S, Petridis C, Fenton DA, Simpson MA, Onoufriadis A, McGrath JA. Tziotzios C, et al. Among authors: onoufriadis a. J Invest Dermatol. 2017 Nov;137(11):2440-2443. doi: 10.1016/j.jid.2017.06.030. Epub 2017 Jul 31. J Invest Dermatol. 2017. PMID: 28774594 Free article. No abstract available.
Time Series Integrative Analysis of RNA Sequencing and MicroRNA Expression Data Reveals Key Biologic Wound Healing Pathways in Keloid-Prone Individuals.
Onoufriadis A, Hsu CK, Ainali C, Ung CY, Rashidghamat E, Yang HS, Huang HY, Niazi U, Tziotzios C, Yang JC, Nuamah R, Tang MJ, Saxena A, de Rinaldis E, McGrath JA. Onoufriadis A, et al. J Invest Dermatol. 2018 Dec;138(12):2690-2693. doi: 10.1016/j.jid.2018.05.017. Epub 2018 Jun 2. J Invest Dermatol. 2018. PMID: 29870686 Free article. No abstract available.
83 results