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A novel saliva-based miRNA profile to diagnose and predict oral cancer.
Balakittnen J, Ekanayake Weeramange C, Wallace DF, Duijf PHG, Cristino AS, Hartel G, Barrero RA, Taheri T, Kenny L, Vasani S, Batstone M, Breik O, Punyadeera C. Balakittnen J, et al. Among authors: duijf phg. Int J Oral Sci. 2024 Feb 18;16(1):14. doi: 10.1038/s41368-023-00273-w. Int J Oral Sci. 2024. PMID: 38368395 Free PMC article.
Homologous recombination DNA repair defects in PALB2-associated breast cancers.
Li A, Geyer FC, Blecua P, Lee JY, Selenica P, Brown DN, Pareja F, Lee SSK, Kumar R, Rivera B, Bi R, Piscuoglio S, Wen HY, Lozada JR, Gularte-Mérida R, Cavallone L; kConFab Investigators; Rezoug Z, Nguyen-Dumont T, Peterlongo P, Tondini C, Terkelsen T, Rønlund K, Boonen SE, Mannerma A, Winqvist R, Janatova M, Rajadurai P, Xia B, Norton L, Robson ME, Ng PS, Looi LM, Southey MC, Weigelt B, Soo-Hwang T, Tischkowitz M, Foulkes WD, Reis-Filho JS. Li A, et al. NPJ Breast Cancer. 2019 Aug 8;5:23. doi: 10.1038/s41523-019-0115-9. eCollection 2019. NPJ Breast Cancer. 2019. PMID: 31428676 Free PMC article.
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.
McGrath JA, Duijf PH, Doetsch V, Irvine AD, de Waal R, Vanmolkot KR, Wessagowit V, Kelly A, Atherton DJ, Griffiths WA, Orlow SJ, van Haeringen A, Ausems MG, Yang A, McKeon F, Bamshad MA, Brunner HG, Hamel BC, van Bokhoven H. McGrath JA, et al. Hum Mol Genet. 2001 Feb 1;10(3):221-9. doi: 10.1093/hmg/10.3.221. Hum Mol Genet. 2001. PMID: 11159940
Pathogenesis of split-hand/split-foot malformation.
Duijf PH, van Bokhoven H, Brunner HG. Duijf PH, et al. Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R51-60. doi: 10.1093/hmg/ddg090. Hum Mol Genet. 2003. PMID: 12668597 Review.
84 results