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Items: 1 to 20 of 29

1.

Associated systemic and ocular disorders in patients with congenital unilateral cataracts: the Infant Aphakia Treatment Study experience.

Traboulsi EI, Vanderveen D, Morrison D, Drews-Botsch CD, Lambert SR; Infant Aphakia Treatment Study Group..

Eye (Lond). 2016 Sep;30(9):1170-4. doi: 10.1038/eye.2016.124. Epub 2016 Jun 17.

PMID:
27315350
2.

Complex Cases in Pediatric Cataract.

Patil-Chhablani P, Kekunnaya R, Nischal KK.

Dev Ophthalmol. 2016;57:85-106. doi: 10.1159/000442505. Epub 2016 Apr 1. Review.

PMID:
27043394
3.

Exome sequencing identified null mutations in LOXL3 associated with early-onset high myopia.

Li J, Gao B, Xiao X, Li S, Jia X, Sun W, Guo X, Zhang Q.

Mol Vis. 2016 Feb 20;22:161-7. eCollection 2016 Feb 20.

4.

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
5.
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7.

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
8.

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.

9.

When flexibility is not necessarily a virtue: a review of hypermobility syndromes and chronic or recurrent musculoskeletal pain in children.

Cattalini M, Khubchandani R, Cimaz R.

Pediatr Rheumatol Online J. 2015 Oct 6;13(1):40. doi: 10.1186/s12969-015-0039-3. Review.

10.

Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.

Barat-Houari M, Sarrabay G, Gatinois V, Fabre A, Dumont B, Genevieve D, Touitou I.

Hum Mutat. 2016 Jan;37(1):7-15. doi: 10.1002/humu.22915. Epub 2015 Oct 21. Review.

PMID:
26443184
11.

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
12.

Etiology and pathogenesis of robin sequence in a large Dutch cohort.

Basart H, Paes EC, Maas SM, van den Boogaard MJ, van Hagen JM, Breugem CC, Cobben JM, Don Griot JP, Lachmeijer AM, Lichtenbelt KD, van Nunen DP, van der Horst CM, Hennekam RC.

Am J Med Genet A. 2015 Sep;167A(9):1983-92. doi: 10.1002/ajmg.a.37154. Epub 2015 May 31.

PMID:
26033782
13.

Perioperative management of 19 infants undergoing glossopexy (tongue-lip adhesion) procedure: a retrospective study.

Fujii M, Tachibana K, Takeuchi M, Nishio J, Kinouchi K.

Paediatr Anaesth. 2015 Aug;25(8):829-33. doi: 10.1111/pan.12675. Epub 2015 May 14.

PMID:
25973908
14.

Stickler syndrome. Epidemiology of retinal detachment.

Vilaplana F, Muiños SJ, Nadal J, Elizalde J, Mojal S.

Arch Soc Esp Oftalmol. 2015 Jun;90(6):264-8. doi: 10.1016/j.oftal.2014.11.001. Epub 2015 Mar 25. English, Spanish.

PMID:
25817961
15.

Stickler syndrome associated with epilepsy: report of three cases.

Savasta S, Salpietro V, Spartà MV, Foiadelli T, Laino D, Lobefalo L, Marseglia GL, Verrotti A.

Eur J Pediatr. 2015 May;174(5):697-701. doi: 10.1007/s00431-015-2514-8. Epub 2015 Mar 27.

PMID:
25809783
16.

Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients.

Iwasa Y, Moteki H, Hattori M, Sato R, Nishio SY, Takumi Y, Usami S.

Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1:111S-7S. doi: 10.1177/0003489415575044. Epub 2015 Mar 16.

PMID:
25780254
17.

PRIMARY SCLERAL BUCKLING FOR PEDIATRIC RHEGMATOGENOUS RETINAL DETACHMENT.

Errera MH, Liyanage SE, Moya R, Wong SC, Ezra E.

Retina. 2015 Jul;35(7):1441-9. doi: 10.1097/IAE.0000000000000480.

PMID:
25741811
18.

LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome.

Alzahrani F, Al Hazzaa SA, Tayeb H, Alkuraya FS.

Hum Genet. 2015 Apr;134(4):451-3. doi: 10.1007/s00439-015-1531-z. Epub 2015 Feb 7.

PMID:
25663169
19.

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.

Chakchouk I, Grati M, Bademci G, Bensaid M, Ma Q, Chakroun A, Foster J 2nd, Yan D, Duman D, Diaz-Horta O, Ghorbel A, Mittal R, Farooq A, Tekin M, Masmoudi S, Liu XZ.

Mol Genet Genomics. 2015 Aug;290(4):1327-34. doi: 10.1007/s00438-015-0995-9. Epub 2015 Jan 30.

20.

Ophthalmic and molecular genetic findings in Kniest dysplasia.

Sergouniotis PI, Fincham GS, McNinch AM, Spickett C, Poulson AV, Richards AJ, Snead MP.

Eye (Lond). 2015 Apr;29(4):475-82. doi: 10.1038/eye.2014.334. Epub 2015 Jan 16.

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