Cole DE - Search Results

1

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. Among authors: cole de. 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

2

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. Among authors: cole de. 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

3

Neurogenetic Aspects of Hyperphosphatasia in Mabry Syndrome.

Cole DE, Thompson MD. Cole DE, et al. Subcell Biochem. 2015;76:343-61. doi: 10.1007/978-94-017-7197-9_16. Subcell Biochem. 2015. PMID: 26219719 Review.

4

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. Among authors: cole de. Pediatr Neurol. 2006 Apr;34(4):303-7. doi: 10.1016/j.pediatrneurol.2005.08.020. Pediatr Neurol. 2006. PMID: 16638507

5

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

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

6

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

Thompson MD, Cole DE, Ray JG. Thompson MD, et al. Among authors: cole de. 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

G protein-coupled receptor pharmacogenetics.

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

8

The G protein-coupled receptors: pharmacogenetics and disease.

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

9

G protein-coupled receptors disrupted in human genetic disease.

Thompson MD, Percy ME, McIntyre Burnham W, Cole DE. Thompson MD, et al. Among authors: cole de. Methods Mol Biol. 2008;448:109-37. doi: 10.1007/978-1-59745-205-2_7. Methods Mol Biol. 2008. PMID: 18370233 Review.

10

Severe cleidocranial dysplasia can mimic hypophosphatasia.

Unger S, Mornet E, Mundlos S, Blaser S, Cole DE. Unger S, et al. Among authors: cole de. Eur J Pediatr. 2002 Nov;161(11):623-6. doi: 10.1007/s00431-002-0978-9. Epub 2002 Jun 28. Eur J Pediatr. 2002. PMID: 12424591

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