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Page 1
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.
Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.
Brodehl A, Ferrier RA, Hamilton SJ, Greenway SC, Brundler MA, Yu W, Gibson WT, McKinnon ML, McGillivray B, Alvarez N, Giuffre M, Schwartzentruber J; FORGE Canada Consortium; Gerull B. Brodehl A, et al. Hum Mutat. 2016 Mar;37(3):269-79. doi: 10.1002/humu.22942. Epub 2016 Jan 8. Hum Mutat. 2016. PMID: 26666891
A deletion map of the WAGR region on chromosome 11.
Gessler M, Thomas GH, Couillin P, Junien C, McGillivray BC, Hayden M, Jaschek G, Bruns GA. Gessler M, et al. Among authors: mcgillivray bc. Am J Hum Genet. 1989 Apr;44(4):486-95. Am J Hum Genet. 1989. PMID: 2539014 Free PMC article.
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen MI, Herman GE, Zhao Y, Moore R, Kelley RI, Jones SJ, Steiner RD, Raymond FL, Marra MA, Boerkoel CF. McLarren KW, et al. Am J Hum Genet. 2010 Dec 10;87(6):905-14. doi: 10.1016/j.ajhg.2010.11.004. Am J Hum Genet. 2010. PMID: 21129721 Free PMC article.
106 results