Triggs-Raine BL - Search Results

1

A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3.

Lamont RE, Loredo-Osti J, Roslin NM, Mauthe J, Coghlan G, Nylen E, Frappier D, Innes AM, Lemire EG, Lowry RB, Greenberg CR, Triggs-Raine BL, Morgan K, Wrogemann K, Fujiwara TM, Zelinski T. Lamont RE, et al. Among authors: triggs raine bl. Am J Med Genet A. 2005 Jan 15;132A(2):136-43. doi: 10.1002/ajmg.a.30420. Am J Med Genet A. 2005. PMID: 15578624

2

A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type I.

Greenberg CR, Reimer D, Singal R, Triggs-Raine B, Chudley AE, Dilling LA, Philipps S, Haworth JC, Seargeant LE, Goodman SI. Greenberg CR, et al. Hum Mol Genet. 1995 Mar;4(3):493-5. doi: 10.1093/hmg/4.3.493. Hum Mol Genet. 1995. PMID: 7795610 No abstract available.

3

A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites.

Greenberg CR, Taylor CL, Haworth JC, Seargeant LE, Philipps S, Triggs-Raine B, Chodirker BN. Greenberg CR, et al. Genomics. 1993 Jul;17(1):215-7. doi: 10.1006/geno.1993.1305. Genomics. 1993. PMID: 8406453

4

Limb girdle muscular dystrophy in Manitoba Hutterites does not map to any of the known LGMD loci.

Weiler T, Greenberg CR, Nylen E, Morgan K, Fujiwara TM, Crumley MJ, Zelinski T, Halliday W, Nickel B, Triggs-Raine B, Wrogemann K. Weiler T, et al. Am J Med Genet. 1997 Oct 31;72(3):363-8. doi: 10.1002/(sici)1096-8628(19971031)72:3<363::aid-ajmg22>3.0.co;2-q. Am J Med Genet. 1997. PMID: 9332671

5

Molecular basis of succinylcholine sensitivity in a prairie Hutterite kindred and genetic characterization of the region containing the BCHE gene.

Zelinski T, Coghlan G, Mauthe J, Triggs-Raine B. Zelinski T, et al. Mol Genet Metab. 2007 Feb;90(2):210-6. doi: 10.1016/j.ymgme.2006.10.009. Epub 2006 Dec 12. Mol Genet Metab. 2007. PMID: 17166756

6

Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.

Armistead J, Khatkar S, Meyer B, Mark BL, Patel N, Coghlan G, Lamont RE, Liu S, Wiechert J, Cattini PA, Koetter P, Wrogemann K, Greenberg CR, Entian KD, Zelinski T, Triggs-Raine B. Armistead J, et al. Am J Hum Genet. 2009 Jun;84(6):728-39. doi: 10.1016/j.ajhg.2009.04.017. Epub 2009 May 21. Am J Hum Genet. 2009. PMID: 19463982 Free PMC article.

7

GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.

Doherty D, Chudley AE, Coghlan G, Ishak GE, Innes AM, Lemire EG, Rogers RC, Mhanni AA, Phelps IG, Jones SJ, Zhan SH, Fejes AP, Shahin H, Kanaan M, Akay H, Tekin M; FORGE Canada Consortium; Triggs-Raine B, Zelinski T. Doherty D, et al. Am J Hum Genet. 2012 Jun 8;90(6):1088-93. doi: 10.1016/j.ajhg.2012.04.008. Epub 2012 May 10. Am J Hum Genet. 2012. PMID: 22578326 Free PMC article.

8

Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population.

Triggs-Raine B, Dyck T, Boycott KM, Innes AM, Ober C, Parboosingh JS, Botkin A, Greenberg CR, Spriggs EL. Triggs-Raine B, et al. Mol Genet Genomic Med. 2016 Jan 19;4(3):312-21. doi: 10.1002/mgg3.206. eCollection 2016 May. Mol Genet Genomic Med. 2016. PMID: 27247959 Free PMC article.

9

Genotyping an immunodeficiency causing c.1624-11G>A ZAP70 mutation in Canadian Mennonites.

Schroeder ML, Triggs-Raine B, Zelinski T. Schroeder ML, et al. BMC Med Genet. 2016 Jul 22;17(1):50. doi: 10.1186/s12881-016-0312-4. BMC Med Genet. 2016. PMID: 27448562 Free PMC article.

10

Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA.

Wicklow BA, Ivanovich JL, Plews MM, Salo TJ, Noetzel MJ, Lueder GT, Cartegni L, Kaback MM, Sandhoff K, Steiner RD, Triggs-Raine BL. Wicklow BA, et al. Among authors: triggs raine bl. Am J Med Genet A. 2004 Jun 1;127A(2):158-66. doi: 10.1002/ajmg.a.20633. Am J Med Genet A. 2004. PMID: 15108204

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