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Immunoglobulin deficiency in stickler syndromeMIKHAK, Zamaneh; KELLY, Pamela; COHEN, Tatyana S et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 24, pp 2824-2827, issn 1552-4825, 4 p.Article

Distinctive cataract in the Stickler syndromeSEERY, C. M; PRUETT, R. C; LIBERFARB, R. M et al.American journal of ophthalmology. 1990, Vol 110, Num 2, pp 143-148, issn 0002-9394, 6 p.Article

Le syndrome de Stickler: à propos d'un cas = Stickler's syndrome: report of one caseZIEGLER, G; GASTAUD, P; EULLER-ZIEGLER, L et al.Revue du rhumatisme et des maladies ostéo-articulaires. 1988, Vol 55, Num 12, pp 1009-1010, issn 0035-2659Article

Stickler's syndromeNIFFNEGGER, J. H; TOPPING, T. M; MUKAI, S et al.International ophthalmology clinics. 1993, Vol 33, Num 2, pp 271-280, issn 0020-8167Article

Síndrome de Stickler = Syndrome de Stickler = Stickler SyndromALVAREZ DE SANTOS, M; CORONADO-MONROY, A; MEDINILLA-VAZQUEZ, M. G et al.Boletín Médico del Hospital Infantil de México (Ed. española). 1986, Vol 43, Num 4, pp 250-255, issn 0539-6115Article

Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutationsRICHARDS, Allanj; MCNINCH, Annie; WHITTAKER, Joanne et al.European journal of human genetics. 2012, Vol 20, Num 5, pp 552-558, issn 1018-4813, 7 p.Article

Clinical and molecular genetics of Stickler syndromeSNEAD, M. P; YATES, J. R. W.Journal of medical genetics. 1999, Vol 36, Num 5, pp 353-359, issn 0022-2593Article

Prophylactic laser photo coagulation in Stickler syndromeLEIBA, H; OLIVER, M; POLLACK, A et al.Eye (London. 1987). 1996, Vol 10, pp 701-708, issn 0950-222X, 6Article

A second mutation in the type II procollagen gene (COL2A1) causing Stickler syndrome (arthro-ophthalmopathy) is also a premature termination codonAHMAD, N. N; MCDONALD-MCGINN, D. M; ZACKAI, E. H et al.American journal of human genetics. 1993, Vol 52, Num 1, pp 39-45, issn 0002-9297Article

Genetic and clinical heterogeneity of Stickler syndromeVINTINER, G. M; TEMPLE, I. K; MIDDLETON-PRICE, H. R et al.American journal of medical genetics. 1991, Vol 41, Num 1, pp 44-48, issn 0148-7299Article

Stickler syndrome associated with congenital glaucomaBHAMY HARIPRASAD SHENOY; ANIL KUMAR MANDAL.Lancet (British edition). 2013, Vol 381, Num 9864, issn 0140-6736, p. 422Article

Retinal Detachment and Prophylaxis in Type 1 Stickler SyndromeANG, Alan; POULSON, Arabella V; GOODBURN, Sandy F et al.Ophthalmology (Rochester, MN). 2008, Vol 115, Num 1, pp 164-168, issn 0161-6420, 5 p.Article

Stickler syndrome: Clinical and orthopaedic manifestations in a four-generation family studyAL-KAISSI, A; BEN CHEHIDA, F; BEN GHACHEM, M et al.Revue maghrébine de pédiatrie. 2002, Vol 12, Num 4, pp 215-218, issn 0330-7611, 4 p.Article

Long-term follow-up of ocular findings in children with Stickler's syndromeWILSON, M. C; MCDONALD-MCGINN, D. M; QUINN, G. E et al.American journal of ophthalmology. 1996, Vol 122, Num 5, pp 727-728, issn 0002-9394Article

Vitreoretinale Veränderungen bei den Geschwistern 2er Patienten mit Stickler-Syndrom. Untersuchung 2er Familien = Vitreoretinal changes in the siblings of two patients with Stickler syndromeLANGMANN, A; LANGMANN, G; KAINER, U et al.Der Ophthalmologe (Berlin. Print). 1993, Vol 90, Num 5, pp 506-509, issn 0941-293XConference Paper

Les surdités dans le syndrome de Stickler = Stickler's syndrome : sensorineural leasing lossVERNET, J.-L; PILLER, P; KENNEL, P et al.Journal français d'oto-rhino-laryngologie (1977). 1992, Vol 41, Num 2, pp 113-117, issn 0398-9771Article

Stickler syndrome : Clinical characteristics and diagnostic criteriaROSE, Peter S; LEVY, Howard P; LIBERFARB, Ruth M et al.American journal of medical genetics. 2005, Vol 138A, Num 3, pp 199-207, issn 0148-7299, 9 p.Article

The ocular manifestations of Weissenbacher-Zweymuller syndromeRABINOWITZ, R; GRADSTEIN, L; GALIL, A et al.Eye (London. 1987). 2004, Vol 18, Num 12, pp 1258-1263, issn 0950-222X, 6 p.Article

Thoracolumbar spinal abnormalities in Stickler syndromeROSE, Peter S; AHN, Nicholas U; LEVY, Howard P et al.Spine (Philadelphia, PA. 1976). 2001, Vol 26, Num 4, pp 403-409, issn 0362-2436Article

Linsenkolobom und Subluxatio lentis beim Stickler-(Marshall-) Syndrom = Coloboma and subluxation of the lens in Stickler (Marshall) syndromeSCHLOTE, T; VÖLKER, M; KNORR, M et al.Klinische Monatsblätter für Augenheilkunde. 1997, Vol 210, Num 4, pp 227-228, issn 0023-2165Article

A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in α1(XI) collagenRICHARDS, A. J; YATES, J. R. W; WILLIAMS, R et al.Human molecular genetics (Print). 1996, Vol 5, Num 9, pp 1339-1343, issn 0964-6906Article

PCR assay confirms diagnosis in syndrome with variably expressed phenotype : mutation detection in Stickler syndromeAHMAD, N. N; MC DONALD-MCGINN, D. M; DIXON, P et al.Journal of medical genetics. 1996, Vol 33, Num 8, pp 678-681, issn 0022-2593Article

Hereditary vitreopathySNEAD, M. P.Eye (London. 1987). 1996, Vol 10, pp 653-663, issn 0950-222X, 6Article

Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy)BROWN, D. M; VANDENBURGH, K; KIMURA, A. E et al.Human molecular genetics (Print). 1995, Vol 4, Num 1, pp 141-142, issn 0964-6906Article