Robertson SP - Search Results

1

Metformin rescues migratory deficits of cells derived from patients with periventricular heterotopia.

Bressan C, Snapyan M, Snapyan M, Klaus J, di Matteo F, Robertson SP, Treutlein B, Parent M, Cappello S, Saghatelyan A. Bressan C, et al. Among authors: robertson sp. EMBO Mol Med. 2023 Oct 11;15(10):e16908. doi: 10.15252/emmm.202216908. Epub 2023 Aug 23. EMBO Mol Med. 2023. PMID: 37609821 Free PMC article.

2

Periventricular heterotopia in common microdeletion syndromes.

van Kogelenberg M, Ghedia S, McGillivray G, Bruno D, Leventer R, Macdermot K, Nelson J, Nagarajan L, Veltman JA, de Brouwer AP, McKinlay Gardner RJ, van Bokhoven H, Kirk EP, Robertson SP. van Kogelenberg M, et al. Among authors: robertson sp. Mol Syndromol. 2010 Feb;1(1):35-41. doi: 10.1159/000274491. Epub 2010 Jan 8. Mol Syndromol. 2010. PMID: 20648244 Free PMC article.

3

Cantu syndrome and hypopituitarism: implications for endocrine monitoring.

Theis NJ, Calvert T, McIntyre P, Robertson SP, Wheeler BJ. Theis NJ, et al. Among authors: robertson sp. Endocrinol Diabetes Metab Case Rep. 2019 Nov 12;2019:19-0103. doi: 10.1530/EDM-19-0103. Online ahead of print. Endocrinol Diabetes Metab Case Rep. 2019. PMID: 31743099 Free PMC article.

4

Resolving the impasse on predictive genetic testing in minors: will more evidence be the solution?

Robertson SP, Kerruish N. Robertson SP, et al. J Med Ethics. 2012 Sep;38(9):525-6; discussion 533-4. doi: 10.1136/medethics-2012-100557. Epub 2012 Apr 19. J Med Ethics. 2012. PMID: 22518046 No abstract available.

5

Longitudinal studies of gene-environment interaction in common diseases--good value for money?

Robertson SP, Poulton R. Robertson SP, et al. Novartis Found Symp. 2008;293:128-37; discussion 138-42, 181-3. doi: 10.1002/9780470696781.ch10. Novartis Found Symp. 2008. PMID: 18972749 Review.

6

Accelerated decline in lung function in cigarette smokers is associated with TP53/MDM2 polymorphisms.

Hancox RJ, Poulton R, Welch D, Olova N, McLachlan CR, Greene JM, Sears MR, Caspi A, Moffitt TE, Robertson SP, Braithwaite AW. Hancox RJ, et al. Among authors: robertson sp. Hum Genet. 2009 Oct;126(4):559-65. doi: 10.1007/s00439-009-0704-z. Epub 2009 Jun 12. Hum Genet. 2009. PMID: 19521721 Free PMC article.

7

Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q₁₀ Deficiency in a Female Sib-Pair.

Jacobsen JC, Whitford W, Swan B, Taylor J, Love DR, Hill R, Molyneux S, George PM, Mackay R, Robertson SP, Snell RG, Lehnert K. Jacobsen JC, et al. Among authors: robertson sp. JIMD Rep. 2018;42:31-36. doi: 10.1007/8904_2017_73. Epub 2017 Nov 21. JIMD Rep. 2018. PMID: 29159460 Free PMC article.

8

Does brittle cornea syndrome have a bone fragility phenotype?

Cundy T, Vincent A, Robertson S. Cundy T, et al. Bone Rep. 2021 Sep 1;15:101124. doi: 10.1016/j.bonr.2021.101124. eCollection 2021 Dec. Bone Rep. 2021. PMID: 34522702 Free PMC article.

9

FLNA-filaminopathy skeletal phenotypes are not due to an osteoblast autonomous loss-of-function.

Wade EM, Goodin EA, Wang Y, Morgan T, Callon KE, Watson M, Daniel PB, Cornish J, McCulloch CA, Robertson SP. Wade EM, et al. Among authors: robertson sp. Bone Rep. 2023 Feb 28;18:101668. doi: 10.1016/j.bonr.2023.101668. eCollection 2023 Jun. Bone Rep. 2023. PMID: 36909664 Free PMC article.

10

Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus.

Holman SK, Morgan T, Baujat G, Cormier-Daire V, Cho TJ, Lees M, Samanich J, Tapon D, Hove HD, Hing A, Hennekam R, Robertson SP. Holman SK, et al. Among authors: robertson sp. Clin Genet. 2013 Mar;83(3):251-6. doi: 10.1111/j.1399-0004.2012.01905.x. Epub 2012 Jul 5. Clin Genet. 2013. PMID: 22670894

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