PubMed

Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome.

Ronan SM, Tran-Viet KN, Burner EL, Metlapally R, Toth CA, Young TL.

Arch Ophthalmol. 2009 Nov;127(11):1511-9.PMID: 19901218 [PubMed - indexed for MEDLINE]Related articles

To push? or not to push?: Second stage management in a patient with Stickler syndrome at risk of retinal detachment.

Sanderson P, Byrd LM.

J Obstet Gynaecol. 2009 Jan;29(1):61-2. No abstract available. PMID: 19280503 [PubMed - indexed for MEDLINE]Related articles

Analysis of the vitreous membrane in a case of type 1 Stickler syndrome.

Yokoi T, Koide R, Matsuoka K, Nakagawa A, Azuma N.

Graefes Arch Clin Exp Ophthalmol. 2009 May;247(5):715-8. Epub 2008 Dec 17.PMID: 19089441 [PubMed - indexed for MEDLINE]Related articles

Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay.

Cui YX, Xia XY, Bu Y, Zhou GH, Yang B, Lu HY, Shi YC, Pan LJ, Huang YF, Li XJ.

Genet Test. 2008 Dec;12(4):533-6.PMID: 19072565 [PubMed - indexed for MEDLINE]Related articles

Focus on the physical assessment of the infant with Stickler syndrome.

Lansford M.

Adv Neonatal Care. 2008 Dec;8(6):308-14. Review.PMID: 19060576 [PubMed - indexed for MEDLINE]Related articles

Retrospective review of Stickler syndrome patients with cleft palate 1997-2004.

Lee KH, Hayward P.

ANZ J Surg. 2008 Sep;78(9):764-6.PMID: 18844904 [PubMed - indexed for MEDLINE]Related articles

Stickler syndrome.

Aylward B, daCruz L, Ezra E, Sullivan P, MacLaren RE, Charteris D, Gregor Z, Bainbridge J, Minihan M.

Ophthalmology. 2008 Sep;115(9):1636-7; author reply 1637-8. No abstract available. PMID: 18762080 [PubMed - indexed for MEDLINE]Related articles

Regression of central giant cell granuloma by a combination of imatinib and interferon: a case report.

de Lange J, van Rijn RR, van den Berg H, van den Akker HP.

Br J Oral Maxillofac Surg. 2009 Jan;47(1):59-61. Epub 2008 Jul 24.PMID: 18656288 [PubMed - indexed for MEDLINE]Related articles

Subperiosteal release of the floor of the mouth in airway management in Pierre Robin sequence.

Breugem CC, Olesen PR, Fitzpatrick DG, Courtemanche DJ.

J Craniofac Surg. 2008 May;19(3):609-15.PMID: 18520372 [PubMed - indexed for MEDLINE]Related articles

The Stickler syndrome. A genetic disease with clinical implications for the plastic surgeon.

Cervelli V, Bottini DJ, Grimaldi M, Gentile P, Caruso R, Gravante G.

J Plast Reconstr Aesthet Surg. 2008 Aug;61(8):987-8. Epub 2008 May 23. No abstract available. PMID: 18458010 [PubMed - indexed for MEDLINE]Related articles

Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 gene.

Avcin T, Makitie O, Susic M, Miller S, Thorne C, Tenenbaum J, Laxer RM, Cole WG.

J Rheumatol. 2008 May;35(5):920-6. Epub 2008 Mar 15.PMID: 18381781 [PubMed - indexed for MEDLINE]Related articles

Clinical features of the congenital vitreoretinopathies.

Edwards AO.

Eye (Lond). 2008 Oct;22(10):1233-42. Epub 2008 Feb 29. Review.PMID: 18309337 [PubMed - indexed for MEDLINE]Related articles

Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis.

Zechi-Ceide RM, Jesus Oliveira NA, Guion-Almeida ML, Antunes LF, Richieri-Costa A, Passos-Bueno MR.

Eur J Med Genet. 2008 May-Jun;51(3):183-96. Epub 2008 Jan 9.PMID: 18276201 [PubMed - indexed for MEDLINE]Related articles

Orthodontic treatment of a patient with Stickler syndrome.

Suda N, Handa S, Higashihori N, Ogawa T, Tsuji M, Ohyama K.

Angle Orthod. 2007 Sep;77(5):931-9.PMID: 17902239 [PubMed - indexed for MEDLINE]Related articles

Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome.

McAlinden A, Majava M, Bishop PN, Perveen R, Black GC, Pierpont ME, Ala-Kokko L, Männikkö M.

Hum Mutat. 2008 Jan;29(1):83-90.PMID: 17721977 [PubMed - indexed for MEDLINE]Related articles

Retinal detachment and prophylaxis in type 1 Stickler syndrome.

Ang A, Poulson AV, Goodburn SF, Richards AJ, Scott JD, Snead MP.

Ophthalmology. 2008 Jan;115(1):164-8. Epub 2007 Aug 2.PMID: 17675240 [PubMed - indexed for MEDLINE]Related articles

Outcomes of surgery for retinal detachment in patients with Stickler syndrome: a comparison of two sequential 20-year cohorts.

Abeysiri P, Bunce C, da Cruz L.

Graefes Arch Clin Exp Ophthalmol. 2007 Nov;245(11):1633-8. Epub 2007 Jun 20.PMID: 17579881 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanisms.

Richards AJ, Laidlaw M, Meredith SP, Shankar P, Poulson AV, Scott JD, Snead MP.

Hum Mutat. 2007 Jun;28(6):639.PMID: 17437277 [PubMed - indexed for MEDLINE]Related articles

Vitreous phenotype: a key diagnostic sign in Stickler syndrome types 1 and 2 complicated by double heterozygosity.

Ang A, Ung T, Puvanachandra N, Wilson L, Howard F, Ryalls M, Richards A, Meredith S, Laidlaw M, Poulson A, Scott J, Snead M.

Am J Med Genet A. 2007 Mar 15;143(6):604-7.PMID: 17318849 [PubMed - indexed for MEDLINE]Related articles