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Results 1 to 25 of 114

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Otolaryngological manifestations of the Stickler syndromeLUCARINI, J. W; LIBERFARB, R. M; EAVEY, R. D et al.International journal of pediatric otorhinolaryngology. 1987, Vol 14, Num 2-3, pp 215-222, issn 0165-5876Article

Stickler's syndrome. A report of a familyHILL, J. C; NELSON, M. M.SAMJ. South African medical journal. 1989, Vol 75, Num 5, pp 238-241, issn 0256-9574Article

Pierre Robin : a personal diaryPERLMAN, C.The Cleft palate-craniofacial journal. 1992, Vol 29, Num 3, pp 201-204, issn 1055-6656Article

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

The Stickler syndrome : case reports and literature reviewBOWLING, E. L; BROWN, M. D; TRUNDLE, T. V et al.Journal of the American Optometric Association. 2000, Vol 71, Num 3, pp 177-182, issn 0003-0244Article

Amplification of the COL2A1 3'variable region used for segregation analysis in a family with the stickler syndromePRIESTLEY, L; KUMAR, D; SYKES, B et al.Human genetics. 1990, Vol 85, Num 5, pp 525-526, issn 0340-6717, 2 p.Article

Die erblich fortschreitende Arthro-Ophthalmopathie (Stickler-Syndrom) = Hereditary progressive arthro-ophthalmopathy (Stickler's syndrome)BERND, L; NIETHARD, F. U; SCHILTENWOLF, M et al.Zeitschrift für Orthopädie und ihre Grenzgebiete. 1989, Vol 127, Num 3, pp 358-361, issn 0044-3220, 4 p.Article

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

The influence of pre-mRNA splicing on phenotypic modification in Stickler's syndrome and other type II collagenopathiesRICHARDS, A. J; SNEAD, M. P.Eye (London. 1987). 2008, Vol 22, Num 10, pp 1243-1250, issn 0950-222X, 8 p.Article

A new autosomal recessive form of stickler syndrome is caused by a mutation in the COL9A1 geneVAN CAMP, Guy; SNOECKX, Rikkert L; VAN DE HEYNING, Paul et al.American journal of human genetics. 2006, Vol 79, Num 3, pp 449-457, issn 0002-9297, 9 p.Article

COL2A1 exon 2 mutations : relevance to the Stickler and Wagner syndromesRICHARDS, A. J; MARTIN, S; YATES, J. R. W et al.British journal of ophthalmology. 2000, Vol 84, Num 4, pp 364-371, issn 0007-1161Article

The spinal manifestations of Stickler's syndromeLETTS, M; KABIR, A; DAVIDSON, D et al.Spine (Philadelphia, PA. 1976). 1999, Vol 24, Num 12, pp 1260-1264, issn 0362-2436Article

Stickler syndrome : a mutation in the nonhelical 3' end of type II procollagen geneAHMAD, N. N; DIMASCIO, J; KNOWLTON, R. G et al.Archives of ophthalmology (1960). 1995, Vol 113, Num 11, pp 1454-1457, issn 0003-9950Article

A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 geneBRUNNER, H. G; VAN BEERSUM, S. E. C; WARMAN, M. L et al.Human molecular genetics (Print). 1994, Vol 3, Num 9, pp 1561-1564, issn 0964-6906Article

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

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