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Items: 1 to 20 of 199

1.

Novel and recurrent <i>COL11A1</i> and <i>COL2A1</i> 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.

2.

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. 2017 Oct 3. doi: 10.1007/s00198-017-4229-3. [Epub ahead of print]

PMID:
28971234
3.

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.

4.

Type I membranous anomaly in Stickler syndrome.

Alexander P, Poulson A, McNinch A, Richards A, Snead M.

Ophthalmic Genet. 2017 May 30:1. doi: 10.1080/13816810.2017.1326510. [Epub ahead of print] No abstract available.

PMID:
28557656
5.

A mild form of Stickler syndrome type II caused by mosaicism of COL11A1.

Lauritsen KF, Lildballe DL, Coucke PJ, Monrad R, Larsen DA, Gregersen PA.

Eur J Med Genet. 2017 May;60(5):275-278. doi: 10.1016/j.ejmg.2017.03.005. Epub 2017 Mar 14.

PMID:
28315471
6.

Stickler Syndrome.

Robin NH, Moran RT, Ala-Kokko L.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2000 Jun 9 [updated 2017 Mar 16].

7.

Foveal Hypoplasia in Patients with Stickler Syndrome.

Matsushita I, Nagata T, Hayashi T, Kimoto K, Kubota T, Ohji M, Kusaka S, Kondo H.

Ophthalmology. 2017 Jun;124(6):896-902. doi: 10.1016/j.ophtha.2017.01.046. Epub 2017 Mar 7.

PMID:
28283280
8.

Osteoporosis in Stickler syndrome. A new family case with bone histology study.

Insalaco P, Legrand E, Bouvard B, Audran M.

Morphologie. 2017 Mar;101(332):33-38. doi: 10.1016/j.morpho.2016.10.001. Epub 2017 Jan 31.

PMID:
28159459
9.

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.

PMID:
28095098
10.

Retinal Detachment in a Combined Case of Stickler Syndrome and X-Linked Retinoschisis.

Mehta NS, Yannuzzi NA, Young R, McClellan AJ, Read SP, Berrocal AM.

Ophthalmic Surg Lasers Imaging Retina. 2017 Jan 1;48(1):83-86. doi: 10.3928/23258160-20161219-13.

PMID:
28060400
11.

Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations.

Goyal M, Kapoor S, Ikegawa S, Nishimura G.

Case Rep Pediatr. 2016;2016:3198597. doi: 10.1155/2016/3198597. Epub 2016 Nov 28.

12.

Long-term surgical outcomes of retinal detachment in patients with Stickler syndrome.

Reddy DN, Yonekawa Y, Thomas BJ, Nudleman ED, Williams GA.

Clin Ophthalmol. 2016 Aug 16;10:1531-4. doi: 10.2147/OPTH.S111526. eCollection 2016.

13.

Novel mutations in the COL2A1 gene in Japanese patients with Stickler syndrome.

Kondo H, Matsushita I, Nagata T, Hayashi T, Kakinoki M, Uchio E, Kondo M, Ohji M, Kusaka S.

Hum Genome Var. 2016 Jul 7;3:16018. doi: 10.1038/hgv.2016.18. eCollection 2016.

14.

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.

15.

Cephalometrics in Stickler syndrome: Objectification of the typical facial appearance.

Acke FR, Dhooge IJ, Malfait F, De Leenheer EM, De Pauw GA.

J Craniomaxillofac Surg. 2016 Jul;44(7):848-53. doi: 10.1016/j.jcms.2016.04.010. Epub 2016 Apr 15.

PMID:
27193475
16.

A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome.

Kohmoto T, Tsuji A, Morita K, Naruto T, Masuda K, Kashimada K, Enomoto K, Morio T, Harada H, Imoto I.

Hum Genome Var. 2016 Apr 7;3:16003. doi: 10.1038/hgv.2016.3. eCollection 2016.

17.

Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients.

Acke FR, Swinnen FK, Malfait F, Dhooge IJ, De Leenheer EM.

Eur Arch Otorhinolaryngol. 2016 Oct;273(10):3025-34. doi: 10.1007/s00405-016-3896-6. Epub 2016 Jan 19.

PMID:
26786361
18.

Rhegmatogenous retinal detachments associated to Stickler syndrome in a tertiary eye care center in Saudi Arabia.

Alshahrani ST, Ghazi NG, Al-Rashaed S.

Clin Ophthalmol. 2015 Dec 21;10:1-6. doi: 10.2147/OPTH.S91444. eCollection 2016.

19.
20.

Use of External Distractors and the Role of Imaging Prior to Mandibular Distraction in Infants With Isolated Pierre Robin Sequence and Stickler Syndrome.

Mingo KM, Sidman JD, Sampson DE, Lander TA, Tibesar RJ, Scott AR.

JAMA Facial Plast Surg. 2016 Mar-Apr;18(2):95-100. doi: 10.1001/jamafacial.2015.1658.

PMID:
26540157

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