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Items: 1 to 20 of 385

1.

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.

2.

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.

3.

Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations.

Wubben TJ, Branham KH, Besirli CG, Bohnsack BL.

Ophthalmic Genet. 2018 Aug 21:1-4. doi: 10.1080/13816810.2018.1509355. [Epub ahead of print]

PMID:
30130436
4.

Is exon 8 the most critical or the only dispensable exon of the VCAN gene? Insights into VCAN variants and clinical spectrum of Wagner syndrome.

Ankala A, Jain N, Hubbard B, Alexander JJ, Shankar SP.

Am J Med Genet A. 2018 Aug;176(8):1778-1783. doi: 10.1002/ajmg.a.38855. Epub 2018 Jul 28.

PMID:
30055036
5.

Targeted next‑generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment.

Huang X, Lin Y, Chen C, Zhu Y, Gao H, Li T, Liu B, Lyu C, Huang Y, Wu Q, Li H, Jin C, Liang X, Lu L.

Int J Mol Med. 2018 Oct;42(4):1819-1826. doi: 10.3892/ijmm.2018.3752. Epub 2018 Jul 4.

6.

Does Mandibular Distraction Change the Laryngoscopy Grade in Infants With Robin Sequence?

Heffernan CB, Calabrese CE, Resnick CM.

J Oral Maxillofac Surg. 2018 Jun 4. pii: S0278-2391(18)30507-X. doi: 10.1016/j.joms.2018.05.032. [Epub ahead of print]

PMID:
29957241
7.

Pierre Robin sequence: A comprehensive narrative review of the literature over time.

Giudice A, Barone S, Belhous K, Morice A, Soupre V, Bennardo F, Boddaert N, Vazquez MP, Abadie V, Picard A.

J Stomatol Oral Maxillofac Surg. 2018 May 17. pii: S2468-7855(18)30118-6. doi: 10.1016/j.jormas.2018.05.002. [Epub ahead of print]

PMID:
29777780
8.

Bilateral Asymmetric Rhegmatogenous Retinal Detachment in a Patient with Stickler Syndrome.

Öztürk C, Sarıgül Sezenöz A, Yılmaz G, Akkoyun İ.

Turk J Ophthalmol. 2018 Apr;48(2):95-98. doi: 10.4274/tjo.60430. Epub 2018 Apr 25.

9.

Stickler syndrome in children: a radiological review.

McArthur N, Rehm A, Shenker N, Richards AJ, McNinch AM, Poulson AV, Tanner J, Snead MP, Bearcroft PWP.

Clin Radiol. 2018 Jul;73(7):678.e13-678.e18. doi: 10.1016/j.crad.2018.03.004. Epub 2018 Apr 13.

PMID:
29661559
10.

Case Report of a Family Affected by Stickler Syndrome in Which Rhegmatogenous Retinal Detachment Occurred in Five Eyes of Three Siblings.

Kimura D, Sato T, Oosuka S, Kohmoto R, Fukumoto M, Mimura M, Tajiri K, Kobayashi T, Kida T, Ikeda T.

Case Rep Ophthalmol. 2018 Jan 4;9(1):1-8. doi: 10.1159/000485551. eCollection 2018 Jan-Apr.

11.

[Association of macular coloboma and Pierre Robin sequence; could it be Stickler syndrome?]

Hamma A, Bousalah M.

J Fr Ophtalmol. 2018 Mar;41(3):e123-e124. doi: 10.1016/j.jfo.2017.09.010. Epub 2018 Mar 24. French. No abstract available.

PMID:
29588057
12.

Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics.

Gettelfinger JD, Dahl JP.

J Pediatr Genet. 2018 Mar;7(1):1-8. doi: 10.1055/s-0037-1617454. Epub 2018 Jan 4. Review.

PMID:
29441214
13.

Impact of Arginine to Cysteine Mutations in Collagen II on Protein Secretion and Cell Survival.

Chakkalakal SA, Heilig J, Baumann U, Paulsson M, Zaucke F.

Int J Mol Sci. 2018 Feb 11;19(2). pii: E541. doi: 10.3390/ijms19020541.

14.

Bilateral giant retinal tears in Osteogenesis Imperfecta.

Scollo P, Snead MP, Richards AJ, Pollitt R, DeVile C.

BMC Med Genet. 2018 Jan 12;19(1):8. doi: 10.1186/s12881-018-0521-0.

15.

WAGNER syndrome: anatomic, functional and genetic characterization of a Portuguese family.

Araújo JR, Tavares-Ferreira J, Estrela-Silva S, Rocha P, Brandão E, Faria PA, Falcão-Reis F, Rocha-Sousa A.

Graefes Arch Clin Exp Ophthalmol. 2018 Jan;256(1):163-171. doi: 10.1007/s00417-017-3800-0. Epub 2017 Oct 25.

PMID:
29071374
16.

Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall-Stickler syndrome spectrum.

Guo L, Elcioglu NH, Wang Z, Demirkol YK, Isguven P, Matsumoto N, Nishimura G, Miyake N, Ikegawa S.

Hum Genome Var. 2017 Oct 5;4:17040. doi: 10.1038/hgv.2017.40. eCollection 2017.

17.

A novel dominant COL11A1 mutation in a child with Stickler syndrome type II is associated with recurrent fractures.

Vogiatzi MG, Li D, Tian L, Garifallou JP, Kim CE, Hakonarson H, Levine MA.

Osteoporos Int. 2018 Jan;29(1):247-251. doi: 10.1007/s00198-017-4229-3. Epub 2017 Oct 3.

PMID:
28971234
18.

Genetic variant of Stickler's syndrome.

Rocha Cabrera P, Cordovés Dorta L, Serrano García MA, Losada Castillo MJ, Abreu Reyes JA, Gómez Resa M.

Arch Soc Esp Oftalmol. 2018 Mar;93(3):139-142. doi: 10.1016/j.oftal.2017.07.003. Epub 2017 Sep 5. English, Spanish.

PMID:
28882395
19.

RETINAL DETACHMENT SURGERY IN A PEDIATRIC POPULATION: Visual and Anatomic Outcomes.

Read SP, Aziz HA, Kuriyan A, Kothari N, Davis JL, Smiddy WE, Flynn HW Jr, Murray TG, Berrocal A.

Retina. 2018 Jul;38(7):1393-1402. doi: 10.1097/IAE.0000000000001725.

PMID:
28858062
20.

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.

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