McGill J - Search Results

1

Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.

Smith A, Wiles C, Haan E, McGill J, Wallace G, Dixon J, Selby R, Colley A, Marks R, Trent RJ. Smith A, et al. Among authors: mcgill j. J Med Genet. 1996 Feb;33(2):107-12. doi: 10.1136/jmg.33.2.107. J Med Genet. 1996. PMID: 8929945 Free PMC article. Review.

2

Origins of accessory small ring marker chromosomes derived from chromosome 1.

Callen DF, Eyre H, Fang YY, Guan XY, Veleba A, Martin NJ, McGill J, Haan EA. Callen DF, et al. Among authors: mcgill j. J Med Genet. 1999 Nov;36(11):847-53. J Med Genet. 1999. PMID: 10544230 Free PMC article.

3

Histopathology and fibrillin-1 distribution in severe early onset Marfan syndrome.

Summers KM, Nataatmadja M, Xu D, West MJ, McGill JJ, Whight C, Colley A, Adès LC. Summers KM, et al. Among authors: mcgill jj. Am J Med Genet A. 2005 Nov 15;139(1):2-8. doi: 10.1002/ajmg.a.30981. Am J Med Genet A. 2005. PMID: 16222666

4

Distinct phenotype in maternal uniparental disomy of chromosome 14.

Healey S, Powell F, Battersby M, Chenevix-Trench G, McGill J. Healey S, et al. Among authors: mcgill j. Am J Med Genet. 1994 Jun 1;51(2):147-9. doi: 10.1002/ajmg.1320510213. Am J Med Genet. 1994. PMID: 8092191 Review.

5

Molecular cytogenetic characterisation of a small ring X chromosome in a Turner patient and in a male patient with congenital abnormalities: role of X inactivation.

Callen DF, Eyre HJ, Dolman G, Garry-Battersby MB, McCreanor JR, Valeba A, McGill JJ. Callen DF, et al. Among authors: mcgill jj. J Med Genet. 1995 Feb;32(2):113-6. doi: 10.1136/jmg.32.2.113. J Med Genet. 1995. PMID: 7760319 Free PMC article.

6

Neuropathology in glutaric acidaemia type 1.

Chow CW, Haan EA, Goodman SI, Anderson RM, Evans WA, Kleinschmidt-DeMasters BK, Wise G, McGill JJ, Danks DM. Chow CW, et al. Among authors: mcgill jj. Acta Neuropathol. 1988;76(6):590-4. doi: 10.1007/BF00689597. Acta Neuropathol. 1988. PMID: 3201922

7

Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype.

Ewing AD, Cheetham SW, McGill JJ, Sharkey M, Walker R, West JA, West MJ, Summers KM. Ewing AD, et al. Among authors: mcgill jj. Am J Med Genet A. 2021 Jul;185(7):2070-2083. doi: 10.1002/ajmg.a.62224. Epub 2021 May 7. Am J Med Genet A. 2021. PMID: 33960642 Free PMC article.

8

Seizures, ataxia, developmental delay and the general paediatrician: glucose transporter 1 deficiency syndrome.

Coman DJ, Sinclair KG, Burke CJ, Appleton DB, Pelekanos JT, O'Neil CM, Wallace GB, Bowling FG, Wang D, De Vivo DC, McGill JJ. Coman DJ, et al. Among authors: mcgill jj. J Paediatr Child Health. 2006 May;42(5):263-7. doi: 10.1111/j.1440-1754.2006.00852.x. J Paediatr Child Health. 2006. PMID: 16712556

9

Clonal lines of aneuploid cells in Rothmund-Thomson syndrome.

Der Kaloustian VM, McGill JJ, Vekemans M, Kopelman HR. Der Kaloustian VM, et al. Among authors: mcgill jj. Am J Med Genet. 1990 Nov;37(3):336-9. doi: 10.1002/ajmg.1320370308. Am J Med Genet. 1990. PMID: 2260560

10

Leigh's disease.

McGill J, Maddison T, Collins K, Powell H, Haan E. McGill J, et al. Med J Aust. 1986 Jan 20;144(2):111. doi: 10.5694/j.1326-5377.1986.tb113683.x. Med J Aust. 1986. PMID: 3941641 No abstract available.

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