Wilson C - Search Results

1

Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2.

Antonarakis SE, Holoubek A, Rapti M, Rademaker J, Meylan J, Iwaszkiewicz J, Zoete V, Wilson C, Taylor J, Ansar M, Borel C, Menzel O, Kuželová K, Santoni FA. Antonarakis SE, et al. Among authors: wilson c. Hum Mol Genet. 2021 Dec 17;31(1):1-9. doi: 10.1093/hmg/ddab026. Hum Mol Genet. 2021. PMID: 33693784

2

Report of two sibs with Knobloch syndrome (encephalocoele and viteroretinal degeneration) and other anomalies.

Wilson C, Aftimos S, Pereira A, McKay R. Wilson C, et al. Am J Med Genet. 1998 Jul 7;78(3):286-90. doi: 10.1002/(sici)1096-8628(19980707)78:3<286::aid-ajmg16>3.0.co;2-b. Am J Med Genet. 1998. PMID: 9677068 Review.

3

Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.

Jacobsen JC, Glamuzina E, Taylor J, Swan B, Handisides S, Wilson C, Fietz M, van Dijk T, Appelhof B, Hill R, Marks R, Love DR, Robertson SP, Snell RG, Lehnert K. Jacobsen JC, et al. Among authors: wilson c. Case Rep Genet. 2015;2015:454526. doi: 10.1155/2015/454526. Epub 2015 Oct 26. Case Rep Genet. 2015. PMID: 26587300 Free PMC article.

4

X-linked dominant chondrodysplasia punctata: a peroxisomal disorder?

Wilson CJ, Aftimos S. Wilson CJ, et al. Am J Med Genet. 1998 Jul 7;78(3):300-2. doi: 10.1002/(sici)1096-8628(19980707)78:3<300::aid-ajmg19>3.0.co;2-j. Am J Med Genet. 1998. PMID: 9677071

5

Analysis of the pre-retinal opacities in Gaucher Disease using spectral domain optical coherent tomography.

Sheck LH, Wilson CJ, Vincent AL. Sheck LH, et al. Ophthalmic Genet. 2012 Dec;33(4):253-6. doi: 10.3109/13816810.2012.716489. Epub 2012 Sep 6. Ophthalmic Genet. 2012. PMID: 22950450

6

Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population.

Bernhardt I, Frajman LE, Ryder B, Andersen E, Wilson C, McKeown C, Anderson T, Coman D, Vincent AL, Buchanan C, Roxburgh R, Pitt J, De Hora M, Christodoulou J, Thorburn DR, Wilson F, Drake KM, Leask M, Yardley AM, Merriman T, Robertson S, Compton AG, Glamuzina E. Bernhardt I, et al. Among authors: wilson c. Mol Genet Metab. 2024 May 25;142(3):108508. doi: 10.1016/j.ymgme.2024.108508. Online ahead of print. Mol Genet Metab. 2024. PMID: 38820906

7

Novel human pathological mutations. Gene symbol: APOB. Disease: normotriglyceridemic hypobetalipoproteinemia.

Homer V, George PM, du Toit S, Davidson JS, Wilson CJ. Homer V, et al. Hum Genet. 2007 Jun;121(5):645-6. Hum Genet. 2007. PMID: 17879433 No abstract available.

8

Citrullinemia type I: molecular screening of the ASS1 gene by exonic sequencing and targeted mutation analysis.

Marquis-Nicholson R, Glamuzina E, Prosser D, Wilson C, Love DR. Marquis-Nicholson R, et al. Among authors: wilson c. Genet Mol Res. 2010 Aug 3;9(3):1483-9. doi: 10.4238/vol9-3gmr834. Genet Mol Res. 2010. PMID: 20690080 Free article.

9

Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder.

Jacobsen JC, Wilson C, Cunningham V, Glamuzina E, Prosser DO, Love DR, Burgess T, Taylor J, Swan B, Hill R, Robertson SP, Snell RG, Lehnert K. Jacobsen JC, et al. Among authors: wilson c. J Inherit Metab Dis. 2016 Mar;39(2):305-8. doi: 10.1007/s10545-015-9897-6. Epub 2015 Oct 26. J Inherit Metab Dis. 2016. PMID: 26497564

10

The outcome of clinical parameters in adults with severe Type I Gaucher disease using very low dose enzyme replacement therapy.

Wilson C, Spearing R, Teague L, Robertson P, Blacklock H. Wilson C, et al. Mol Genet Metab. 2007 Sep-Oct;92(1-2):131-6. doi: 10.1016/j.ymgme.2007.05.013. Epub 2007 Jul 2. Mol Genet Metab. 2007. PMID: 17604204

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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

8,818 results

Search Page