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Items: 1 to 20 of 105

1.

Early-onset progressive osteoarthritis with hereditary progressive ophtalmopathy or Stickler syndrome.

Couchouron T, Masson C.

Joint Bone Spine. 2011 Jan;78(1):45-9. doi: 10.1016/j.jbspin.2010.03.012. Epub 2010 May 11. Review.

PMID:
20462780
2.

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
3.

Radiographic and tomographic analysis in patients with stickler syndrome type I.

Al Kaissi A, Chehida FB, Ganger R, Kenis V, Zandieh S, Hofstaetter JG, Klaushofer K, Grill F.

Int J Med Sci. 2013 Aug 3;10(9):1250-8. doi: 10.7150/ijms.4997. Print 2013.

4.

Stickler syndrome in Pierre-Robin sequence prenatal ultrasonographic diagnosis and postnatal therapy: two cases report.

Pacella E, Malvasi A, Tinelli A, Laterza F, Dell'Edera D, Pacella F, Mazzeo F, Ferraresi A, Malarska KG, Cavallotti C.

Eur Rev Med Pharmacol Sci. 2010 Dec;14(12):1051-4.

PMID:
21375138
5.

Importance of early diagnosis of Stickler syndrome in newborns.

Antunes RB, Alonso N, Paula RG.

J Plast Reconstr Aesthet Surg. 2012 Aug;65(8):1029-34. doi: 10.1016/j.bjps.2012.02.017. Epub 2012 Mar 15.

PMID:
22424767
6.

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
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: 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
9.

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.

10.

Visual complications of Stickler syndrome in paediatric patients with Robin sequence.

Huang F, Kuo HK, Hsieh CH, Lai JP, Chen PK.

J Craniomaxillofac Surg. 2007 Mar;35(2):76-80. Epub 2007 Apr 18.

PMID:
17442580
11.

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
12.

A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.

Baker S, Booth C, Fillman C, Shapiro M, Blair MP, Hyland JC, Ala-Kokko L.

Am J Med Genet A. 2011 Jul;155A(7):1668-72. doi: 10.1002/ajmg.a.34071. Epub 2011 Jun 10.

PMID:
21671392
13.
14.

Clinical and Molecular genetics of Stickler syndrome.

Snead MP, Yates JR.

J Med Genet. 1999 May;36(5):353-9. Review.

15.

Fast and early mandibular osteodistraction (FEMOD) in severe Pierre Robin Sequence.

Cascone P, Papoff P, Arangio P, Vellone V, Calafati V, Silvestri A.

J Craniomaxillofac Surg. 2014 Oct;42(7):1364-70. doi: 10.1016/j.jcms.2014.03.027. Epub 2014 Apr 5.

PMID:
24787079
16.

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
17.
18.

The Stickler syndrome: case reports and literature review.

Bowling EL, Brown MD, Trundle TV.

Optometry. 2000 Mar;71(3):177-82. Review.

PMID:
10970261
19.

Hearing impairment in Stickler syndrome: a systematic review.

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

Orphanet J Rare Dis. 2012 Oct 30;7:84. doi: 10.1186/1750-1172-7-84. Review.

20.

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

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