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Dual colour fluorescence in situ hybridization to paraffin-embedded samples to deduce the presence of the der(X)t(X;18)(p11.2;q11.2) and involvement of either the SSX1 or SSX2 gene: a diagnostic and prognostic aid for synovial sarcoma.
Lu YJ, Birdsall S, Summersgill B, Smedley D, Osin P, Fisher C, Shipley J. Lu YJ, et al. Among authors: smedley d. J Pathol. 1999 Mar;187(4):490-6. doi: 10.1002/(SICI)1096-9896(199903)187:4<490::AID-PATH274>3.0.CO;2-X. J Pathol. 1999. PMID: 10398111
Cloning and mapping of members of the MYM family.
Smedley D, Hamoudi R, Lu YJ, Cooper C, Shipley J. Smedley D, et al. Genomics. 1999 Sep 1;60(2):244-7. doi: 10.1006/geno.1999.5918. Genomics. 1999. PMID: 10486218
Characterization of chromosome 1 abnormalities in malignant melanomas.
Smedley D, Sidhar S, Birdsall S, Bennett D, Herlyn M, Cooper C, Shipley J. Smedley D, et al. Genes Chromosomes Cancer. 2000 May;28(1):121-5. doi: 10.1002/(sici)1098-2264(200005)28:1<121::aid-gcc14>3.0.co;2-o. Genes Chromosomes Cancer. 2000. PMID: 10738310
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Tolchin D, Yeager JP, Prasad P, Dorrani N, Russi AS, Martinez-Agosto JA, Haseeb A, Angelozzi M, Santen GWE, Ruivenkamp C, Mercimek-Andrews S, Depienne C, Kuechler A, Mikat B, Ludecke HJ, Bilan F, Le Guyader G, Gilbert-Dussardier B, Keren B, Heide S, Haye D, Van Esch H, Keldermans L, Ortiz D, Lancaster E, Krantz ID, Krock BL, Pechter KB, Arkader A, Medne L, DeChene ET, Calpena E, Melistaccio G, Wilkie AOM, Suri M, Foulds N; Genomics England Research Consortium; Begtrup A, Henderson LB, Forster C, Reed P, McDonald MT, McConkie-Rosell A, Thevenon J, Le Tanno P, Coutton C, Tsai ACH, Stewart S, Maver A, Gorazd R, Pichon O, Nizon M, Cogné B, Isidor B, Martin-Coignard D, Stoeva R, Lefebvre V, Le Caignec C. Tolchin D, et al. Am J Hum Genet. 2020 Jun 4;106(6):830-845. doi: 10.1016/j.ajhg.2020.04.015. Epub 2020 May 21. Am J Hum Genet. 2020. PMID: 32442410 Free PMC article.
206 results