Jira PE - Search Results

1

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.

Waterham HR, Wijburg FA, Hennekam RC, Vreken P, Poll-The BT, Dorland L, Duran M, Jira PE, Smeitink JA, Wevers RA, Wanders RJ. Waterham HR, et al. Among authors: jira pe. Am J Hum Genet. 1998 Aug;63(2):329-38. doi: 10.1086/301982. Am J Hum Genet. 1998. PMID: 9683613 Free PMC article.

2

[Smith-Lemli-Opitz syndrome; a special defect in cholesterol metabolism].

Aalfs CM, Hennekam RC, Wanders RJ, Jira PE, Pilon JW, Wijburg FA. Aalfs CM, et al. Among authors: jira pe. Ned Tijdschr Geneeskd. 1996 Jul 13;140(28):1463-6. Ned Tijdschr Geneeskd. 1996. PMID: 8766772 Dutch.

3

Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome.

Jira PE, Wanders RJ, Smeitink JA, De Jong J, Wevers RA, Oostheim W, Tuerlings JH, Hennekam RC, Sengers RC, Waterham HR. Jira PE, et al. Ann Hum Genet. 2001 May;65(Pt 3):229-36. doi: 10.1017/S0003480001008600. Ann Hum Genet. 2001. PMID: 11427181

4

Smith-Lemli-Opitz syndrome and the DHCR7 gene.

Jira PE, Waterham HR, Wanders RJ, Smeitink JA, Sengers RC, Wevers RA. Jira PE, et al. Ann Hum Genet. 2003 May;67(Pt 3):269-80. doi: 10.1046/j.1469-1809.2003.00034.x. Ann Hum Genet. 2003. PMID: 12914579 Review.

5

Pitfalls in measuring plasma cholesterol in the Smith-Lemli-Opitz syndrome.

Jira PE, de Jong JG, Janssen-Zijlstra FS, Wendel U, Wevers RA. Jira PE, et al. Clin Chem. 1997 Jan;43(1):129-33. Clin Chem. 1997. PMID: 8990234

6

Simvastatin. A new therapeutic approach for Smith-Lemli-Opitz syndrome.

Jira PE, Wevers RA, de Jong J, Rubio-Gozalbo E, Janssen-Zijlstra FS, van Heyst AF, Sengers RC, Smeitink JA. Jira PE, et al. J Lipid Res. 2000 Aug;41(8):1339-46. J Lipid Res. 2000. PMID: 10946022 Free article.

7

New treatment strategy for Smith-Lemli-Opitz syndrome.

Jira P, Wevers R, de Jong J, Rubio-Gozalbo E, Smeitink J. Jira P, et al. Lancet. 1997 Apr 26;349(9060):1222. doi: 10.1016/S0140-6736(05)62415-4. Lancet. 1997. PMID: 9130950 Free article. No abstract available.

8

Decreased bone density and treatment in patients with autosomal recessive cutis laxa.

Noordam C, Funke S, Knoers NV, Jira P, Wevers RA, Urban Z, Morava E. Noordam C, et al. Acta Paediatr. 2009 Mar;98(3):490-4. doi: 10.1111/j.1651-2227.2008.01145.x. Epub 2008 Dec 4. Acta Paediatr. 2009. PMID: 19055655

9

[Three hypotonic neonates with hypertrophic cardiomyopathy: Pompe's disease].

Willemsen MA, Jira PE, Gabreëls FJ, van der Ploeg AT, Smeitink JA. Willemsen MA, et al. Among authors: jira pe. Ned Tijdschr Geneeskd. 1998 Jun 13;142(24):1388-92. Ned Tijdschr Geneeskd. 1998. PMID: 9752027 Dutch.

10

Primrose syndrome: Characterization of the phenotype in 42 patients.

Melis D, Carvalho D, Barbaro-Dieber T, Espay AJ, Gambello MJ, Gener B, Gerkes E, Hitzert MM, Hove HB, Jansen S, Jira PE, Lachlan K, Menke LA, Narayanan V, Ortiz D, Overwater E, Posmyk R, Ramsey K, Rossi A, Sandoval RL, Stumpel C, Stuurman KE, Cordeddu V, Turnpenny P, Strisciuglio P, Tartaglia M, Unger S, Waters T, Turnbull C, Hennekam RC. Melis D, et al. Among authors: jira pe. Clin Genet. 2020 Jun;97(6):890-901. doi: 10.1111/cge.13749. Epub 2020 Apr 20. Clin Genet. 2020. PMID: 32266967 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

31 results

Search Page

Filters