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hereditary progressive arthro-ophthalmopathy(Stickler' s syndrome)相关文献:
Stickler's syndrome (hereditary progressive arthro-ophthalmopathy).
PMID:
[Stickler's syndrome or hereditary progressive arthro-ophthalmopathy].
PMID:
[Stickler's syndrome or hereditary progressive arthro-ophthalmopathy].
PMID:
Dominant Stickler Syndrome.
Soh Z, Richards AJ, McNinch A, Alexander P, Martin H, Snead MP.
Genes (Basel). 2022 Jun 18;13(6):1089. doi: 10.3390/genes13061089.
PMID:35741851
HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY.
STICKLER GB, BELAU PG, FARRELL FJ, JONES JD, PUGH DG, STEINBERG AG, WARD LE.
Mayo Clin Proc. 1965 Jun;40:433-55.
PMID:14299791
Autosomal Recessive Stickler Syndrome.
Nixon TRW, Richards AJ, Martin H, Alexander P, Snead MP.
Genes (Basel). 2022 Jun 24;13(7):1135. doi: 10.3390/genes13071135.
PMID:35885918
Hearing Loss in Stickler Syndrome: An Update.
Acke FRE, De Leenheer EMR.
Genes (Basel). 2022 Sep 1;13(9):1571. doi: 10.3390/genes13091571.
PMID:36140739
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.
Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RC, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KO, Smithson SF, Temple KI, Van Aken E, Van Bever Y, van den Ende J, Van Hagen JM, Zelante L, Zordania R, De Paepe A, Leroy BP, De Buyzere M, Coucke PJ, Mortier GR.
Eur J Hum Genet. 2010 Aug;18(8):872-80. doi: 10.1038/ejhg.2010.23. Epub 2010 Feb 24.
PMID:20179744
Stickler syndrome.
Rishi P, Maheshwari A, Rishi E.
Indian J Ophthalmol. 2015 Jul;63(7):614-5. doi: 10.4103/0301-4738.167114.
PMID:26458481
Prevention of Blindness in Stickler Syndrome.
Alexander P, Snead MP.
Genes (Basel). 2022 Jun 26;13(7):1150. doi: 10.3390/genes13071150.
PMID:35885933
Type II Collagen Disorders Overview.
Gregersen PA, Savarirayan R.
2019 Apr 25 [updated 2024 Oct 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:31021589
Stickler's syndrome (hereditary progressive arthro-ophthalmopathy).
Popkin JS, Polomeno RC.
Can Med Assoc J. 1974 Nov 16;111(10):1071-6.
PMID:4429933
Hereditary progressive arthro-ophthalmopathy of Stickler.
Blair NP, Albert DM, Liberfarb RM, Hirose T.
Am J Ophthalmol. 1979 Nov;88(5):876-88. doi: 10.1016/0002-9394(79)90566-x.
PMID:507166
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