Similar articles for PMID: 23918729

Year	Number of Results
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2024	0

1

Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome.

Lee RW, Conley SK, Gropman A, Porter FD, Baker EH. Lee RW, et al. Am J Med Genet A. 2013 Oct;161A(10):2407-19. doi: 10.1002/ajmg.a.36096. Epub 2013 Aug 5. Am J Med Genet A. 2013. PMID: 23918729 Free PMC article.

2

MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome.

Caruso PA, Poussaint TY, Tzika AA, Zurakowski D, Astrakas LG, Elias ER, Bay C, Irons MB. Caruso PA, et al. Neuroradiology. 2004 Jan;46(1):3-14. doi: 10.1007/s00234-003-1110-1. Epub 2003 Nov 5. Neuroradiology. 2004. PMID: 14605787

3

The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome.

Tucci A, Ronzoni L, Arduino C, Salmin P, Esposito S, Milani D. Tucci A, et al. BMC Med Genet. 2016 Mar 11;17:22. doi: 10.1186/s12881-016-0287-1. BMC Med Genet. 2016. PMID: 26969503 Free PMC article.

4

MRI in Smith-Lemli-Opitz syndrome type I.

Trasimeni G, Di Biasi C, Iannilli M, Orlandi L, Boscherini B, Balducci R, Gualdi GF. Trasimeni G, et al. Childs Nerv Syst. 1997 Jan;13(1):47-9. doi: 10.1007/s003810050039. Childs Nerv Syst. 1997. PMID: 9083702

5

Corpus callosum measurements correlate with developmental delay in Smith-Lemli-Opitz syndrome.

Lee RW, Yoshida S, Jung ES, Mori S, Baker EH, Porter FD. Lee RW, et al. Pediatr Neurol. 2013 Aug;49(2):107-12. doi: 10.1016/j.pediatrneurol.2013.03.015. Pediatr Neurol. 2013. PMID: 23859856 Free PMC article.

6

Adrenal function in Smith-Lemli-Opitz syndrome.

Bianconi SE, Conley SK, Keil MF, Sinaii N, Rother KI, Porter FD, Stratakis CA. Bianconi SE, et al. Am J Med Genet A. 2011 Nov;155A(11):2732-8. doi: 10.1002/ajmg.a.34271. Epub 2011 Oct 11. Am J Med Genet A. 2011. PMID: 21990131 Free PMC article.

7

Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism.

Anderson AJ, Stephan MJ, Walker WO, Kelley RI. Anderson AJ, et al. Am J Med Genet. 1998 Aug 6;78(5):413-8. doi: 10.1002/(sici)1096-8628(19980806)78:5<413::aid-ajmg4>3.0.co;2-m. Am J Med Genet. 1998. PMID: 9714006

8

Vitamin D levels in Smith-Lemli-Opitz syndrome.

Movassaghi M, Bianconi S, Feinn R, Wassif CA, Porter FD. Movassaghi M, et al. Am J Med Genet A. 2017 Oct;173(10):2577-2583. doi: 10.1002/ajmg.a.38361. Epub 2017 Aug 10. Am J Med Genet A. 2017. PMID: 28796426 Free PMC article.

9

Recent insights into the Smith-Lemli-Opitz syndrome.

Yu H, Patel SB. Yu H, et al. Clin Genet. 2005 Nov;68(5):383-91. doi: 10.1111/j.1399-0004.2005.00515.x. Clin Genet. 2005. PMID: 16207203 Free PMC article. Review.

10

Anthropometric characteristics of 65 Polish Smith-Lemli-Opitz patients.

Różdżyńska-Świątkowska A, Ciara E, Halat-Wolska P, Krajewska-Walasek M, Jezela-Stanek A. Różdżyńska-Świątkowska A, et al. J Appl Genet. 2021 Sep;62(3):469-475. doi: 10.1007/s13353-021-00632-5. Epub 2021 Apr 22. J Appl Genet. 2021. PMID: 33890232

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