Jira PE - Search Results

1

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.

2

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

3

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.

4

[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.

5

The phenotype of recurrent 10q22q23 deletions and duplications.

van Bon BW, Balciuniene J, Fruhman G, Nagamani SC, Broome DL, Cameron E, Martinet D, Roulet E, Jacquemont S, Beckmann JS, Irons M, Potocki L, Lee B, Cheung SW, Patel A, Bellini M, Selicorni A, Ciccone R, Silengo M, Vetro A, Knoers NV, de Leeuw N, Pfundt R, Wolf B, Jira P, Aradhya S, Stankiewicz P, Brunner HG, Zuffardi O, Selleck SB, Lupski JR, de Vries BB. van Bon BW, et al. Eur J Hum Genet. 2011 Apr;19(4):400-8. doi: 10.1038/ejhg.2010.211. Epub 2011 Jan 19. Eur J Hum Genet. 2011. PMID: 21248748 Free PMC article.

6

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.

7

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

8

Prevalence of growth hormone (GH) deficiency in previously GH-treated young adults with Prader-Willi syndrome.

Donze SH, Damen L, van Alfen-van der Velden JAEM, Bocca G, Finken MJJ, Hoorweg-Nijman GJG, Jira PE, van Leeuwen M, Hokken-Koelega ACS. Donze SH, et al. Among authors: jira pe. Clin Endocrinol (Oxf). 2019 Jul;91(1):118-123. doi: 10.1111/cen.13988. Epub 2019 Apr 30. Clin Endocrinol (Oxf). 2019. PMID: 30973645 Free PMC article.

9

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

10

[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.

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