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MITF E318K: A rare homozygous case with multiple primary melanoma.
Wallingford CK, Maas EJ, Howard A, DeBortoli E, Bhanja D, Lee K, Mothershaw A, Jagirdar K, Willett R, Betz-Stablein B, Sturm RA, Soyer HP, McInerney-Leo AM. Wallingford CK, et al. Among authors: mcinerney leo am. Pigment Cell Melanoma Res. 2024 Jan;37(1):68-73. doi: 10.1111/pcmr.13122. Epub 2023 Aug 27. Pigment Cell Melanoma Res. 2024. PMID: 37635363
The MC1R r allele does not increase melanoma risk in MITF E318K carriers.
Wallingford CK, Demeshko A, Krishnakripa AK, Smit DJ, Duffy DL, Betz-Stablein B, Pflugfelder A, Jagirdar K, Holland E, Mann GJ, Primiero CA, Yanes T, Malvehy J, Badenas C, Carrera C, Aguilera P, Olsen CM, Ward SV, Haass NK, Sturm RA, Puig S, Whiteman DC, Law MH, Cust AE, Potrony M, Soyer HP, McInerney-Leo AM. Wallingford CK, et al. Among authors: mcinerney leo am. Br J Dermatol. 2023 May 24;188(6):770-776. doi: 10.1093/bjd/ljad041. Br J Dermatol. 2023. PMID: 36879448 Free PMC article.
GOLM1: expanding our understanding of melanoma susceptibility.
Maas EJ, Wallingford CK, DeBortoli E, Smit DJ, Betz-Stablein B, Aoude LG, Stark MS, Sturm RA, Soyer HP, McInerney-Leo AM. Maas EJ, et al. Among authors: mcinerney leo am. J Med Genet. 2023 Sep;60(9):835-837. doi: 10.1136/jmg-2023-109348. Epub 2023 Jul 24. J Med Genet. 2023. PMID: 37487699 No abstract available.
Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.
Sparrow DB, McInerney-Leo A, Gucev ZS, Gardiner B, Marshall M, Leo PJ, Chapman DL, Tasic V, Shishko A, Brown MA, Duncan EL, Dunwoodie SL. Sparrow DB, et al. Hum Mol Genet. 2013 Apr 15;22(8):1625-31. doi: 10.1093/hmg/ddt012. Epub 2013 Jan 17. Hum Mol Genet. 2013. PMID: 23335591
Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.
McInerney-Leo AM, Schmidts M, Cortés CR, Leo PJ, Gener B, Courtney AD, Gardiner B, Harris JA, Lu Y, Marshall M; UK10K Consortium; Scambler PJ, Beales PL, Brown MA, Zankl A, Mitchison HM, Duncan EL, Wicking C. McInerney-Leo AM, et al. Am J Hum Genet. 2013 Sep 5;93(3):515-23. doi: 10.1016/j.ajhg.2013.06.022. Epub 2013 Aug 1. Am J Hum Genet. 2013. PMID: 23910462 Free PMC article.
94 results