Drenth JP - Search Results

1

Paroxysmal extreme pain disorder: a molecular lesion of peripheral neurons.

Choi JS, Boralevi F, Brissaud O, Sánchez-Martín J, Te Morsche RH, Dib-Hajj SD, Drenth JP, Waxman SG. Choi JS, et al. Among authors: drenth jp. Nat Rev Neurol. 2011 Jan;7(1):51-5. doi: 10.1038/nrneurol.2010.162. Epub 2010 Nov 16. Nat Rev Neurol. 2011. PMID: 21079636

2

Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease.

Drenth JP, te Morsche RH, Smink R, Bonifacino JS, Jansen JB. Drenth JP, et al. Nat Genet. 2003 Mar;33(3):345-7. doi: 10.1038/ng1104. Epub 2003 Feb 10. Nat Genet. 2003. PMID: 12577059

3

Molecular characterization of hepatocystin, the protein that is defective in autosomal dominant polycystic liver disease.

Drenth JP, Martina JA, Te Morsche RH, Jansen JB, Bonifacino JS. Drenth JP, et al. Gastroenterology. 2004 Jun;126(7):1819-27. doi: 10.1053/j.gastro.2004.02.023. Gastroenterology. 2004. PMID: 15188177

4

Functional polymorphisms of UDP-glucuronosyltransferases 1A1, 1A6 and 1A8 are not involved in chronic pancreatitis.

Verlaan M, te Morsche RH, Pap A, Laheij RJ, Jansen JB, Peters WH, Drenth JP. Verlaan M, et al. Among authors: drenth jp. Pharmacogenetics. 2004 Jun;14(6):351-7. doi: 10.1097/00008571-200406000-00004. Pharmacogenetics. 2004. PMID: 15247627 Free article.

5

SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels.

Drenth JP, te Morsche RH, Guillet G, Taieb A, Kirby RL, Jansen JB. Drenth JP, et al. J Invest Dermatol. 2005 Jun;124(6):1333-8. doi: 10.1111/j.0022-202X.2005.23737.x. J Invest Dermatol. 2005. PMID: 15955112 Free article.

6

Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7.

Michiels JJ, te Morsche RH, Jansen JB, Drenth JP. Michiels JJ, et al. Among authors: drenth jp. Arch Neurol. 2005 Oct;62(10):1587-90. doi: 10.1001/archneur.62.10.1587. Arch Neurol. 2005. PMID: 16216943

7

Autosomal dominant polycystic liver disease in a family without polycystic kidney disease associated with a novel missense protein kinase C substrate 80K-H mutation.

Peces R, Drenth JP, Te Morsche RH, González P, Peces C. Peces R, et al. Among authors: drenth jp. World J Gastroenterol. 2005 Dec 28;11(48):7690-3. doi: 10.3748/wjg.v11.i48.7690. World J Gastroenterol. 2005. PMID: 16437702 Free PMC article.

8

Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease.

Waanders E, te Morsche RH, de Man RA, Jansen JB, Drenth JP. Waanders E, et al. Among authors: drenth jp. Hum Mutat. 2006 Aug;27(8):830. doi: 10.1002/humu.9441. Hum Mutat. 2006. PMID: 16835903

9

Recurrent idiopathic pancreatitis in familial adenomatous polyposis: report of a case-series and review of the literature.

van Esch AA, Drenth JP, te Morsche RH, Jansen JB, Nagengast FM. van Esch AA, et al. Among authors: drenth jp. Fam Cancer. 2007;6(3):275-80. doi: 10.1007/s10689-007-9118-z. Epub 2007 Feb 21. Fam Cancer. 2007. PMID: 17318339 Free article. Review.

10

Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.

Rosendahl J, Witt H, Szmola R, Bhatia E, Ozsvári B, Landt O, Schulz HU, Gress TM, Pfützer R, Löhr M, Kovacs P, Blüher M, Stumvoll M, Choudhuri G, Hegyi P, te Morsche RH, Drenth JP, Truninger K, Macek M Jr, Puhl G, Witt U, Schmidt H, Büning C, Ockenga J, Kage A, Groneberg DA, Nickel R, Berg T, Wiedenmann B, Bödeker H, Keim V, Mössner J, Teich N, Sahin-Tóth M. Rosendahl J, et al. Among authors: drenth jp. Nat Genet. 2008 Jan;40(1):78-82. doi: 10.1038/ng.2007.44. Epub 2007 Dec 2. Nat Genet. 2008. PMID: 18059268 Free PMC article.

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