Richards AJ - Search Results

1

Ophthalmic manifestations of Czech dysplasia.

Soh Z, Martin H, Richards AJ, Suri M, Snead MP. Soh Z, et al. Among authors: richards aj. Am J Med Genet A. 2024 Apr;194(4):e63480. doi: 10.1002/ajmg.a.63480. Epub 2023 Nov 19. Am J Med Genet A. 2024. PMID: 37982325

2

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

3

Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule.

Richards AJ, Morgan J, Bearcroft PW, Pickering E, Owen MJ, Holmans P, Williams N, Tysoe C, Pope FM, Snead MP, Hughes H. Richards AJ, et al. J Med Genet. 2002 Sep;39(9):661-5. doi: 10.1136/jmg.39.9.661. J Med Genet. 2002. PMID: 12205109 Free PMC article.

4

Prevalence of mitral valve prolapse in Stickler syndrome.

Ahmad N, Richards AJ, Murfett HC, Shapiro L, Scott JD, Yates JR, Norton J, Snead MP. Ahmad N, et al. Among authors: richards aj. Am J Med Genet A. 2003 Jan 30;116A(3):234-7. doi: 10.1002/ajmg.a.10619. Am J Med Genet A. 2003. PMID: 12503098

5

Vitreous phenotype: a key diagnostic sign in Stickler syndrome types 1 and 2 complicated by double heterozygosity.

Ang A, Ung T, Puvanachandra N, Wilson L, Howard F, Ryalls M, Richards A, Meredith S, Laidlaw M, Poulson A, Scott J, Snead M. Ang A, et al. Am J Med Genet A. 2007 Mar 15;143A(6):604-7. doi: 10.1002/ajmg.a.31527. Am J Med Genet A. 2007. PMID: 17318849

6

Somatic mosaicism and the phenotypic expression of COL2A1 mutations.

Nagendran S, Richards AJ, McNinch A, Sandford RN, Snead MP. Nagendran S, et al. Among authors: richards aj. Am J Med Genet A. 2012 May;158A(5):1204-7. doi: 10.1002/ajmg.a.35303. Epub 2012 Apr 11. Am J Med Genet A. 2012. PMID: 22496037

7

Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss.

Richards AJ, Fincham GS, McNinch A, Hill D, Poulson AV, Castle B, Lees MM, Moore AT, Scott JD, Snead MP. Richards AJ, et al. J Med Genet. 2013 Nov;50(11):765-71. doi: 10.1136/jmedgenet-2012-101499. Epub 2013 Aug 6. J Med Genet. 2013. PMID: 23922384 Free PMC article.

8

Ophthalmic and molecular genetic findings in Kniest dysplasia.

Sergouniotis PI, Fincham GS, McNinch AM, Spickett C, Poulson AV, Richards AJ, Snead MP. Sergouniotis PI, et al. Among authors: richards aj. Eye (Lond). 2015 Apr;29(4):475-82. doi: 10.1038/eye.2014.334. Epub 2015 Jan 16. Eye (Lond). 2015. PMID: 25592122 Free PMC article.

9

Bilateral giant retinal tears in Osteogenesis Imperfecta.

Scollo P, Snead MP, Richards AJ, Pollitt R, DeVile C. Scollo P, et al. Among authors: richards aj. BMC Med Genet. 2018 Jan 12;19(1):8. doi: 10.1186/s12881-018-0521-0. BMC Med Genet. 2018. PMID: 29329516 Free PMC article.

10

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.

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