McGill JJ - Search Results

1

3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('type 4').

Chitayat D, Chemke J, Gibson KM, Mamer OA, Kronick JB, McGill JJ, Rosenblatt B, Sweetman L, Scriver CR. Chitayat D, et al. Among authors: mcgill jj. J Inherit Metab Dis. 1992;15(2):204-12. doi: 10.1007/BF01799632. J Inherit Metab Dis. 1992. PMID: 1382150

2

Detection of heterozygotes for recessive alleles. Homocyst(e)inemia: paradigm of pitfalls in phenotypes.

McGill JJ, Mettler G, Rosenblatt DS, Scriver CR. McGill JJ, et al. Am J Med Genet. 1990 May;36(1):45-52. doi: 10.1002/ajmg.1320360111. Am J Med Genet. 1990. PMID: 2185635 Review.

3

Congenital disorder of glycosylation type Ia in a 6-year-old girl with a mild intellectual phenotype: two novel PMM2 mutations.

Coman D, Klingberg S, Morris D, McGill J, Mercer H. Coman D, et al. J Inherit Metab Dis. 2005;28(6):1189-90. doi: 10.1007/s10545-005-0166-y. J Inherit Metab Dis. 2005. PMID: 16435227

4

Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation.

White SL, Shanske S, McGill JJ, Mountain H, Geraghty MT, DiMauro S, Dahl HH, Thorburn DR. White SL, et al. Among authors: mcgill jj. J Inherit Metab Dis. 1999 Dec;22(8):899-914. doi: 10.1023/a:1005639407166. J Inherit Metab Dis. 1999. PMID: 10604142

5

Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.

Coman D, Vissers LELM, Riley LG, Kwint MP, Hauck R, Koster J, Geuer S, Hopkins S, Hallinan B, Sweetman L, Engelke UFH, Burrow TA, Cardinal J, McGill J, Inwood A, Gurnsey C, Waterham HR, Christodoulou J, Wevers RA, Pitt J. Coman D, et al. Am J Hum Genet. 2018 Jul 5;103(1):125-130. doi: 10.1016/j.ajhg.2018.05.004. Epub 2018 Jun 14. Am J Hum Genet. 2018. PMID: 29909962 Free PMC article.

6

Adult-onset arginase deficiency.

Cowley DM, Bowling FG, McGill JJ, van Dongen J, Morris D. Cowley DM, et al. Among authors: mcgill jj. J Inherit Metab Dis. 1998 Aug;21(6):677-8. doi: 10.1023/a:1005492819527. J Inherit Metab Dis. 1998. PMID: 9762606 No abstract available.

7

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

8

Unrelated cord blood transplantation in a girl with Hoyeraal-Hreidarsson syndrome.

Coman D, Herbert A, McGill J, Lockwood L, Hallahan A. Coman D, et al. Bone Marrow Transplant. 2008 Aug;42(4):293-4. doi: 10.1038/bmt.2008.163. Epub 2008 Jun 16. Bone Marrow Transplant. 2008. PMID: 18560411 No abstract available.

9

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. 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.

10

N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case report.

Selvanathan A, Demetriou K, Lynch M, Lipke M, Bursle C, Elliott A, Inwood A, Foyn L, McWhinney B, Coman D, McGill J. Selvanathan A, et al. JIMD Rep. 2022 Jul 22;63(5):420-424. doi: 10.1002/jmd2.12318. eCollection 2022 Sep. JIMD Rep. 2022. PMID: 36101823 Free PMC article.

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