Nixon TRW - Search Results

1

Retinal detachment in Loeys-Dietz syndrome.

Maghsoudi D, Nixon TRW, Snead MP. Maghsoudi D, et al. Among authors: nixon trw. Am J Med Genet A. 2023 Mar;191(3):846-849. doi: 10.1002/ajmg.a.63077. Epub 2022 Dec 18. Am J Med Genet A. 2023. PMID: 36529632

2

Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia.

Nixon TRW, Richards A, Towns LK, Fuller G, Abbs S, Alexander P, McNinch A, Sandford RN, Snead MP. Nixon TRW, et al. Eur J Hum Genet. 2019 Mar;27(3):369-377. doi: 10.1038/s41431-018-0316-y. Epub 2018 Dec 19. Eur J Hum Genet. 2019. PMID: 30568244 Free PMC article.

3

Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype.

Nixon TRW, Alexander P, Richards A, McNinch A, Bearcroft PWP, Cobben J, Snead MP. Nixon TRW, et al. Am J Med Genet A. 2019 Aug;179(8):1498-1506. doi: 10.1002/ajmg.a.61191. Epub 2019 May 14. Am J Med Genet A. 2019. PMID: 31090205

4

Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss.

Nixon T, Richards AJ, Lomas A, Abbs S, Vasudevan P, McNinch A, Alexander P, Snead MP. Nixon T, et al. Mol Genet Genomic Med. 2020 Sep;8(9):e1354. doi: 10.1002/mgg3.1354. Epub 2020 Jun 24. Mol Genet Genomic Med. 2020. PMID: 32578940 Free PMC article.

5

Stickler syndrome - lessons from a national cohort.

Snead MP, Richards AJ, McNinch AM, Alexander P, Martin H, Nixon TRW, Bale P, Shenker N, Brown S, Blackwell AM, Poulson AV. Snead MP, et al. Among authors: nixon trw. Eye (Lond). 2022 Oct;36(10):1966-1972. doi: 10.1038/s41433-021-01776-8. Epub 2021 Oct 5. Eye (Lond). 2022. PMID: 34611315 Free PMC article.

6

Autosomal Recessive Stickler Syndrome.

Nixon TRW, Richards AJ, Martin H, Alexander P, Snead MP. Nixon TRW, et al. Genes (Basel). 2022 Jun 24;13(7):1135. doi: 10.3390/genes13071135. Genes (Basel). 2022. PMID: 35885918 Free PMC article. Review.

7

Legg-Calve-Perthes' disease: an opportunity to prevent blindness?

Wang A, Nixon T, Martin H, Richards A, McNinch A, Alexander P, Pujari R, Bale P, Shenker N, Bearcroft P, Brown S, Blackwell A, Poulson A, Snead M. Wang A, et al. Arch Dis Child. 2023 Oct;108(10):789-791. doi: 10.1136/archdischild-2022-325059. Epub 2023 Mar 7. Arch Dis Child. 2023. PMID: 36882306 Review.

8

Use of vitreous phenotype as a key clinical marker to identify Ocular-only Stickler syndrome in a family with Marfan syndrome.

Malik H, Soh Z, Nixon TRW, McNinch A, Richards AJ, Alexander P, Martin H, Snead MP. Malik H, et al. Among authors: nixon trw. Eur J Ophthalmol. 2024 Jan;34(1):NP1-NP5. doi: 10.1177/11206721231169309. Epub 2023 Apr 9. Eur J Ophthalmol. 2024. PMID: 37032444

9

Posterior vitreous detachment and retinal tear - a prospective study of community referrals.

Nixon TRW, Davie RL, Snead MP. Nixon TRW, et al. Eye (Lond). 2024 Mar;38(4):786-791. doi: 10.1038/s41433-023-02779-3. Epub 2023 Oct 5. Eye (Lond). 2024. PMID: 37798362 Free PMC article.

10

Feasibility of simple machine learning approaches to support detection of non-glaucomatous visual fields in future automated glaucoma clinics.

Thomas PBM, Chan T, Nixon T, Muthusamy B, White A. Thomas PBM, et al. Eye (Lond). 2019 Jul;33(7):1133-1139. doi: 10.1038/s41433-019-0386-2. Epub 2019 Mar 4. Eye (Lond). 2019. PMID: 30833668 Free PMC article.

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