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Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument.
Crow YJ, McMenamin J, Haenggeli CA, Hadley DM, Tirupathi S, Treacy EP, Zuberi SM, Browne BH, Tolmie JL, Stephenson JB. Crow YJ, et al. Among authors: stephenson jb. Neuropediatrics. 2004 Feb;35(1):10-9. doi: 10.1055/s-2003-43552. Neuropediatrics. 2004. PMID: 15002047
Syndromes associated with trichothiodystrophy.
Tolmie JL, de Berker D, Dawber R, Galloway C, Gregory DW, Lehmann AR, McClure J, Pollitt RJ, Stephenson JB. Tolmie JL, et al. Among authors: stephenson jb. Clin Dysmorphol. 1994 Jan;3(1):1-14. Clin Dysmorphol. 1994. PMID: 8205320
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).
Briggs TA, Abdel-Salam GM, Balicki M, Baxter P, Bertini E, Bishop N, Browne BH, Chitayat D, Chong WK, Eid MM, Halliday W, Hughes I, Klusmann-Koy A, Kurian M, Nischal KK, Rice GI, Stephenson JB, Surtees R, Talbot JF, Tehrani NN, Tolmie JL, Toomes C, van der Knaap MS, Crow YJ. Briggs TA, et al. Among authors: stephenson jb. Am J Med Genet A. 2008 Jan 15;146A(2):182-90. doi: 10.1002/ajmg.a.32080. Am J Med Genet A. 2008. PMID: 18076099
Diagnosis in Prader-Willi syndrome.
Chu CE, Cooke A, Stephenson JB, Tolmie JL, Clarke B, Parry-Jones WL, Connor JM, Donaldson MD. Chu CE, et al. Among authors: stephenson jb. Arch Dis Child. 1994 Nov;71(5):441-2. doi: 10.1136/adc.71.5.441. Arch Dis Child. 1994. PMID: 7826116 Free PMC article.
A novel pattern of oculocerebral malformation.
Clark BJ, Lee WR, Doyle D, Arngrimsson R, Tolmie JL, Stephenson JB. Clark BJ, et al. Among authors: stephenson jb. Br J Ophthalmol. 1997 Jun;81(6):470-5. doi: 10.1136/bjo.81.6.470. Br J Ophthalmol. 1997. PMID: 9274411 Free PMC article.
159 results