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Items: 1 to 20 of 113

1.

Applying and testing the conveniently optimized enzyme mismatch cleavage method to clinical DNA diagnosis.

Niida Y, Kuroda M, Mitani Y, Okumura A, Yokoi A.

Mol Genet Metab. 2012 Nov;107(3):580-5. doi: 10.1016/j.ymgme.2012.09.008. Epub 2012 Sep 10.

PMID:
23022073
2.

Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome.

Wang X, Jia X, Xiao X, Li S, Li J, Li Y, Wei Y, Liang X, Guo X.

Mol Vis. 2016 Jun 23;22:697-704. eCollection 2016.

3.

Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations.

Edwards TL, Burt BO, Black GC, Perveen R, Kearns LS, Staffieri SE, Toomes C, Buttery RG, Mackey DA.

Clin Exp Ophthalmol. 2012 Jul;40(5):476-83. doi: 10.1111/j.1442-9071.2012.02804.x. Epub 2012 Jun 19.

PMID:
22574936
4.

Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation.

Gerth-Kahlert C, Grisanti S, Berger E, Höhn R, Witt G, Jung U.

J AAPOS. 2011 Jun;15(3):311-3. doi: 10.1016/j.jaapos.2011.03.008.

PMID:
21777803
5.

Reduced penetrance in a large Caucasian pedigree with Stickler syndrome.

Tompson SW, Johnson C, Abbott D, Bakall B, Soler V, Yanovitch TL, Whisenhunt KN, Klemm T, Rozen S, Stone EM, Johnson M, Young TL.

Ophthalmic Genet. 2017 Jan-Feb;38(1):43-50. doi: 10.1080/13816810.2016.1275018. Epub 2017 Jan 17.

6.

COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome.

Dupont C, Baumann C, Le Du N, Schaefer E, Guimiot F, Boutaud L, Capri Y, Spaggiari E, Aboura A, Benzacken B, Tabet AC.

Am J Med Genet A. 2013 Oct;161A(10):2663-5. doi: 10.1002/ajmg.a.36081. Epub 2013 Aug 5. No abstract available.

PMID:
23918474
7.

Stickler syndrome: an underdiagnosed disease. Report of a family.

De Keyzer TH, De Veuster I, Smets RM.

Bull Soc Belge Ophtalmol. 2011;(318):45-9.

PMID:
22003765
8.

Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes.

Tran-Viet KN, Soler V, Quiette V, Powell C, Yanovitch T, Metlapally R, Luo X, Katsanis N, Nading E, Young TL.

Mol Vis. 2013 Apr 5;19:759-66. Print 2013.

9.

A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature.

Higuchi Y, Hasegawa K, Yamashita M, Tanaka H, Tsukahara H.

J Med Case Rep. 2017 Aug 26;11(1):237. doi: 10.1186/s13256-017-1396-y. Review.

10.

Phenotypic characterization of patients with early-onset high myopia due to mutations in COL2A1 or COL11A1: Why not Stickler syndrome?

Zhou L, Xiao X, Li S, Jia X, Wang P, Sun W, Zhang F, Li J, Li T, Zhang Q.

Mol Vis. 2018 Aug 10;24:560-573. eCollection 2018.

11.

Pathogenic gene screening in 91 Chinese patients with short stature of unknown etiology with a targeted next-generation sequencing panel.

Yang L, Zhang C, Wang W, Wang J, Xiao Y, Lu W, Ma X, Chen L, Ni J, Wang D, Shi J, Dong Z.

BMC Med Genet. 2018 Dec 12;19(1):212. doi: 10.1186/s12881-018-0730-6.

12.

Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.

Hanson-Kahn A, Li B, Cohn DH, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics, Hudgins L.

Am J Med Genet A. 2018 Dec;176(12):2887-2891. doi: 10.1002/ajmg.a.40647. Epub 2018 Nov 18. Review.

PMID:
30450842
13.

Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report.

Riise N, Lindberg BR, Kulseth MA, Fredwall SO, Lundby R, Estensen ME, Drolsum L, Merckoll E, Krohg-Sørensen K, Paus B.

BMC Med Genet. 2018 Aug 31;19(1):155. doi: 10.1186/s12881-018-0671-0.

14.

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. Erratum in: Eur J Hum Genet. 2010 Aug;18(8):881.

15.

Stickler syndrome type 1 accompanied by membranous vitreous anomaly in two Japanese sisters.

Suemori S, Sawada A, Shiraki I, Mochizuki K.

Semin Ophthalmol. 2014 Jan;29(1):45-7. doi: 10.3109/13506129.2013.839805. Epub 2013 Oct 28.

PMID:
24164106
16.

Identification of the first deep intronic mutation in the RPS6KA3 gene in a patient with a severe form of Coffin-Lowry syndrome.

Schneider A, Maas SM, Hennekam RC, Hanauer A.

Eur J Med Genet. 2013 Mar;56(3):150-2. doi: 10.1016/j.ejmg.2012.11.007. Epub 2012 Dec 20.

PMID:
23261961
17.

Stickler syndrome.

Rishi P, Maheshwari A, Rishi E.

Indian J Ophthalmol. 2015 Jul;63(7):614-5. doi: 10.4103/0301-4738.167114. No abstract available.

18.

Giant premacular bursa: a novel finding of the posterior vitreous in two patients with Stickler syndrome type 1 revealed by swept-source optical coherence tomography.

Chen KC, Jung JJ, Engelbert M.

Graefes Arch Clin Exp Ophthalmol. 2016 Mar;254(3):591-3. doi: 10.1007/s00417-015-3125-9. Epub 2015 Aug 6. No abstract available.

PMID:
26245341
19.
20.

Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.

Nikopoulos K, Schrauwen I, Simon M, Collin RW, Veckeneer M, Keymolen K, Van Camp G, Cremers FP, van den Born LI.

Invest Ophthalmol Vis Sci. 2011 Jul 1;52(7):4774-9. doi: 10.1167/iovs.10-7128.

PMID:
21421862

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