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Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.
Burkitt Wright EM, Sach E, Sharif S, Quarrell O, Carroll T, Whitehouse RW, Upadhyaya M, Huson SM, Evans DG. Burkitt Wright EM, et al. Among authors: whitehouse rw. J Med Genet. 2013 Sep;50(9):606-13. doi: 10.1136/jmedgenet-2013-101648. Epub 2013 Jun 28. J Med Genet. 2013. PMID: 23812910 Free PMC article.
A genetic register for von Hippel-Lindau disease.
Maddock IR, Moran A, Maher ER, Teare MD, Norman A, Payne SJ, Whitehouse R, Dodd C, Lavin M, Hartley N, Super M, Evans DG. Maddock IR, et al. J Med Genet. 1996 Feb;33(2):120-7. doi: 10.1136/jmg.33.2.120. J Med Genet. 1996. PMID: 8929948 Free PMC article.
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.
Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, Parker VE, Blumhorst C, Darling T, Tosi LL, Huson SM, Whitehouse RW, Jakkula E, Grant I, Balasubramanian M, Chandler KE, Fraser JL, Gucev Z, Crow YJ, Brennan LM, Clark R, Sellars EA, Pena LD, Krishnamurty V, Shuen A, Braverman N, Cunningham ML, Sutton VR, Tasic V, Graham JM Jr, Geer J Jr, Henderson A, Semple RK, Biesecker LG. Keppler-Noreuil KM, et al. Among authors: whitehouse rw. Am J Med Genet A. 2014 Jul;164A(7):1713-33. doi: 10.1002/ajmg.a.36552. Epub 2014 Apr 29. Am J Med Genet A. 2014. PMID: 24782230 Free PMC article.
Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers: a case-controlled study (SIGNIFY).
Bancroft EK, Saya S, Brown E, Thomas S, Taylor N, Rothwell J, Pope J, Chamberlain A, Page E, Benafif S, Hanson H, Dias A, Mikropoulos C, Izatt L, Side L, Walker L, Donaldson A, Cook JA, Barwell J, Wiles V, Limb L, Eccles DM, Leach MO, Shanley S, Gilbert FJ, Gallagher D, Rajashanker B, Whitehouse RW, Koh DM, Sohaib SA, Evans DG, Eeles RA, Walker LG. Bancroft EK, et al. Among authors: whitehouse rw. J Med Genet. 2020 Apr;57(4):226-236. doi: 10.1136/jmedgenet-2019-106407. Epub 2019 Nov 12. J Med Genet. 2020. PMID: 31719169 Free PMC article.
Painful hips in a patient on long-term steroid treatment.
Lay JP, Whitehouse RW. Lay JP, et al. Among authors: whitehouse rw. Postgrad Med J. 1998 Nov;74(877):693-4. doi: 10.1136/pgmj.74.877.693. Postgrad Med J. 1998. PMID: 10197202 Free PMC article. No abstract available.
Multiple primary malignancies associated with a germline SMARCB1 pathogenic variant.
Eelloo JA, Smith MJ, Bowers NL, Ealing J, Hulse P, Wylie JP, Shenjere P, Clarke NW, Soh C, Whitehouse RW, Jones M, Duff C, Freemont A, Gareth Evans D. Eelloo JA, et al. Among authors: whitehouse rw. Fam Cancer. 2019 Oct;18(4):445-449. doi: 10.1007/s10689-019-00138-4. Fam Cancer. 2019. PMID: 31240424
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