Thompson MD - Search Results

1

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.

Krawitz PM, Schweiger MR, Rödelsperger C, Marcelis C, Kölsch U, Meisel C, Stephani F, Kinoshita T, Murakami Y, Bauer S, Isau M, Fischer A, Dahl A, Kerick M, Hecht J, Köhler S, Jäger M, Grünhagen J, de Condor BJ, Doelken S, Brunner HG, Meinecke P, Passarge E, Thompson MD, Cole DE, Horn D, Roscioli T, Mundlos S, Robinson PN. Krawitz PM, et al. Among authors: thompson md. Nat Genet. 2010 Oct;42(10):827-9. doi: 10.1038/ng.653. Epub 2010 Aug 29. Nat Genet. 2010. PMID: 20802478

2

The G protein-coupled receptors: pharmacogenetics and disease.

Thompson MD, Burnham WM, Cole DE. Thompson MD, et al. Crit Rev Clin Lab Sci. 2005;42(4):311-92. doi: 10.1080/10408360591001895. Crit Rev Clin Lab Sci. 2005. PMID: 16281738 Review.

3

Hyperphosphatasia with neurologic deficit: a pyridoxine-responsive seizure disorder?

Thompson MD, Killoran A, Percy ME, Nezarati M, Cole DE, Hwang PA. Thompson MD, et al. Pediatr Neurol. 2006 Apr;34(4):303-7. doi: 10.1016/j.pediatrneurol.2005.08.020. Pediatr Neurol. 2006. PMID: 16638507

4

Pharmacogenomics of G protein-coupled receptor signaling: insights from health and disease.

Thompson MD, Cole DE, Jose PA. Thompson MD, et al. Methods Mol Biol. 2008;448:77-107. doi: 10.1007/978-1-59745-205-2_6. Methods Mol Biol. 2008. PMID: 18370232 Review.

5

G protein-coupled receptor pharmacogenetics.

Thompson MD, Siminovitch KA, Cole DE. Thompson MD, et al. Methods Mol Biol. 2008;448:139-85. doi: 10.1007/978-1-59745-205-2_8. Methods Mol Biol. 2008. PMID: 18370234 Review.

6

Vitamin B-12 and neural tube defects: the Canadian experience.

Thompson MD, Cole DE, Ray JG. Thompson MD, et al. Am J Clin Nutr. 2009 Feb;89(2):697S-701S. doi: 10.3945/ajcn.2008.26947B. Epub 2008 Dec 30. Am J Clin Nutr. 2009. PMID: 19116334 Free article. Review.

7

Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome.

Thompson MD, Nezarati MM, Gillessen-Kaesbach G, Meinecke P, Mendoza-Londono R, Mornet E, Brun-Heath I, Squarcioni CP, Legeai-Mallet L, Munnich A, Cole DE. Thompson MD, et al. Am J Med Genet A. 2010 Jul;152A(7):1661-9. doi: 10.1002/ajmg.a.33438. Am J Med Genet A. 2010. PMID: 20578257

8

Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).

Thompson MD, Roscioli T, Marcelis C, Nezarati MM, Stolte-Dijkstra I, Sharom FJ, Lu P, Phillips JA, Sweeney E, Robinson PN, Krawitz P, Yntema HG, Andrade DM, Brunner HG, Cole DE. Thompson MD, et al. Am J Med Genet A. 2012 Mar;158A(3):553-8. doi: 10.1002/ajmg.a.35202. Epub 2012 Feb 7. Am J Med Genet A. 2012. PMID: 22315194

9

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.

Krawitz PM, Murakami Y, Hecht J, Krüger U, Holder SE, Mortier GR, Delle Chiaie B, De Baere E, Thompson MD, Roscioli T, Kielbasa S, Kinoshita T, Mundlos S, Robinson PN, Horn D. Krawitz PM, et al. Among authors: thompson md. Am J Hum Genet. 2012 Jul 13;91(1):146-51. doi: 10.1016/j.ajhg.2012.05.004. Epub 2012 Jun 7. Am J Hum Genet. 2012. PMID: 22683086 Free PMC article.

10

G protein-coupled receptor mutations and human genetic disease.

Thompson MD, Hendy GN, Percy ME, Bichet DG, Cole DE. Thompson MD, et al. Methods Mol Biol. 2014;1175:153-87. doi: 10.1007/978-1-4939-0956-8_8. Methods Mol Biol. 2014. PMID: 25150870 Review.

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