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Page 1
Paraganglioma and pheochromocytoma upon maternal transmission of SDHD mutations.
Bayley JP, Oldenburg RA, Nuk J, Hoekstra AS, van der Meer CA, Korpershoek E, McGillivray B, Corssmit EP, Dinjens WN, de Krijger RR, Devilee P, Jansen JC, Hes FJ. Bayley JP, et al. Among authors: mcgillivray b. BMC Med Genet. 2014 Oct 10;15:111. doi: 10.1186/s12881-014-0111-8. BMC Med Genet. 2014. PMID: 25300370 Free PMC article.
Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14.
Menten B, Buysse K, Zahir F, Hellemans J, Hamilton SJ, Costa T, Fagerstrom C, Anadiotis G, Kingsbury D, McGillivray BC, Marra MA, Friedman JM, Speleman F, Mortier G. Menten B, et al. Among authors: mcgillivray bc. J Med Genet. 2007 Apr;44(4):264-8. doi: 10.1136/jmg.2006.047860. Epub 2007 Jan 12. J Med Genet. 2007. PMID: 17220210 Free PMC article.
Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome.
Drumheller T, McGillivray BC, Behrner D, MacLeod P, McFadden DE, Roberson J, Venditti C, Chorney K, Chorney M, Smith DI. Drumheller T, et al. Among authors: mcgillivray bc. J Med Genet. 1996 Oct;33(10):842-7. doi: 10.1136/jmg.33.10.842. J Med Genet. 1996. PMID: 8933338 Free PMC article.
Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical region.
Strehle EM, Yu L, Rosenfeld JA, Donkervoort S, Zhou Y, Chen TJ, Martinez JE, Fan YS, Barbouth D, Zhu H, Vaglio A, Smith R, Stevens CA, Curry CJ, Ladda RL, Fan ZJ, Fox JE, Martin JA, Abdel-Hamid HZ, McCracken EA, McGillivray BC, Masser-Frye D, Huang T. Strehle EM, et al. Am J Med Genet A. 2012 Sep;158A(9):2139-51. doi: 10.1002/ajmg.a.35502. Epub 2012 Jul 27. Am J Med Genet A. 2012. PMID: 22847869
Segregation analysis of microcephaly.
Cohen T, Zeitune M, McGillivray BC, Hall JG, Lynn AH, Aston CE, Chakravarti A. Cohen T, et al. Among authors: mcgillivray bc. Am J Med Genet. 1996 Oct 28;65(3):226-34. doi: 10.1002/(SICI)1096-8628(19961028)65:3<226::AID-AJMG11>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 9240749
The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height.
Buysse K, Reardon W, Mehta L, Costa T, Fagerstrom C, Kingsbury DJ, Anadiotis G, McGillivray BC, Hellemans J, de Leeuw N, de Vries BB, Speleman F, Menten B, Mortier G. Buysse K, et al. Among authors: mcgillivray bc. Eur J Med Genet. 2009 Mar-Jun;52(2-3):101-7. doi: 10.1016/j.ejmg.2009.03.001. Epub 2009 Mar 17. Eur J Med Genet. 2009. PMID: 19298872
118 results