REFERENCE LIBRARY
The following is a list of publications related to Stickler Syndrome and or the symptoms of the syndrome. This bibliography listing is not all-inclusive, and may not include very recently published works. Recommendations of articles to be added to this listing are welcome and can be directed to sip@sticklers.org. This list was last updated on July 2008.
List of Stickler-related medical research and publications.
03 TI: Hereditary Progressive Arthro-Ophthalmopathy OMIM-108300-SS Type I] SS AU: Stickler, GB Belau, PG Farrell, FJ Jones, JD Pugh, DG Steinberg, AG Ward, LE SO: Mayo Clinic Proceedings 1965 Jun 40(6):433-455
04 TI: Hereditary Progressive Arthro-Ophthalmopathy II: Additional Observations on Vertebral Abnormalities, A Hearing Defect and a Report of a Similar Case AU: Stickler, GB Pugh, DG OMIM-108300-SS Type I]SO: Mayo Clinic Proceedings 1967 Aug 42(8):495-500
15 TI: The Stickler Syndrome [OMIM-108300-SS Type I]SSL AU: Opitz ,JM France, T Herrmann, J Spranger, JW SO: The New England Journal of Medicine 1972 Mar 9 286(10):546-547
18 TI: Stickler Syndrome in a Pedigree of Pierre Robin Syndrome SSL AU: Schreiner, RL McAlister, WH Marshall, RE Shearer, WT SO: American Journal of Diseases of Children 1973 Jul 126(1):86-90
20 TI: Stickler Syndrome. Presenting as a Syndrome of Cleft Palate, Myopia and Blindness Inherited as a Dominant Trait SSL AU: Hall, J [OMIM-108300-SS Type I] SO: Birth Defects, Original Article Series 1974 Aug 10(8):157-171
21 TI: Stickler’s syndrome (hereditary progressive arthro-ophthalmopathy) SSL AU: Popkin, JS Polomeno, RC [OMIM-108300-SS Type I] SO: Canadian Medical Association Journal 1974 Nov 16 111(10):1071-1076
22 TI: The Stickler Syndrome in a Family With Pierre Robin Syndrome and Severe Myopia SS AU: Turner, G [OMIM-108300-SS Type I] SO: Australian Paediatric Journal 1974 10:103-108
24 TI: The Stickler Syndrome (Hereditary Arthroophthalmopathy) {OMIM-108300-SS Type I]SSL AU: Herrmann, J France, TD Spranger, JW Opitz, JM Wiffler, C SO: Birth Defects, Original Article Series 1975 Feb 11(2):76-103
27 TI: The Stickler Syndrome SSL AU: Herrmann, J France, TD Opitz, JM SO: Birth Defects, Original Article Series 1975 Jun 11(6):203-204
28 TI: Stickler Syndrome: Report of a Second Australian Family SSL AU: Kozlowski, K Turner, G SO: Pediatric Radiology 1975 Sep 15 3(4):230-234
30 TI: The Stickler syndrome presenting as a dominantly inherited cleft palate and blindness SSL AU: Hall, JG Herrod, H SO: Journal of Medical Genetics 1975 Dec 12(4):397-400
31 TI: Giant tear of the retinaVIS AU: Scott, JD SO: Transactions of the Ophthalmological Society of UK 1975 95:142-144
32 TI: The Stickler Syndrome (Hereditary Arthro-ophthalmopathy) [OMIM-108300-SS Type I] SSL AU: Gellis, SS Feingold, M SO: American Journal of Diseases of Children 1976 Jan 130(1):65-66
37 TI: The Stickler syndrome (Hereditary arthro-ophthalmopathy) [OMIM-108300- SS Type I]SSL AU: Say, B Berry, J Barber, N SO: Clinical Genetics 1977 Sep 12(3):179-182
44 TI: The Wagner-Stickler Syndrome – A Genetic Study SSL/ AU: Liberfarb, RM Hirose, T Holmes, LBSYN SO: Birth Defects, Original Article Series 1979 Sep-Oct 15(5B):145-154
46 TI: Hereditary Progressive Arthro-Ophthalmopathy of Stickler [OMIM-108300- SS Type I] SSL AU: Blair, NP Albert, DM Liberfarb, RM Hirose, T SO: American Journal of Ophthalmology 1979 Nov 88(5):876-888
47 TI: Stickler’s syndrome and neovascular glaucoma SSL/ AU: Young, NJA Hitchings, RA Sehmi, K Bird, ACVIS SO: British Journal of Ophthalmology 1979 63:826-831
54 TI: Stickler’s Syndrome SSL AU: Nielsen, CE SO: Acta Ophthalmologica (Copen.) 1981 Apr 59(2):286-295
56 TI: The Wagner-Stickler syndrome: A study of 22 families SSL AU: Liberfarb, RM Hirose, T Holmes, LB SO: The Journal of Pediatrics 1981 Sept 99(3):394-399
57 TI: The Wagner-Stickler syndrome complex SSL/ AU: Godel, V Nemet P Lazar, MSYN SO: Documenta Ophthalmologica 1981 Dec 16 52(2):179-188
60 TI: The Wagner-Stickler Syndrome SSL/ AU: Liberfarb, RM Hirose, TSYN SO: Birth Defects Original Article Series 1982 18(6):525-538
63 TI: Marshall/Stickler syndrome SSL/ AU: Baraitser, MSYN SO: Journal of Medical Genetics 1982 Apr 19(2):139-140
67 TI: Stickler Syndrome: A Cephalometric Study of the Face SSL AU: Saksena, SS Bixler, D Yu, P-L SO: Journal of Craniofacial Genetics and Developmental Biology 1983 Jan 3(1):19-28
68 TI: The Weissenbacher-Zweymuller, Stickler and Marshall Syndromes. Further Evidence for Their Identity SSL/ AU: Winter, RM Baraitser, M Laurence, KM Donnai, D Hall, CM [OMIM-108300-SS Type I]SYN SO: American Journal of Medical Genetics 1983 Oct 16(2): 189-199
69 TI: Type II Collagen-Induced Autoimmune Otospongiosis: A Preliminary Report COL AU: Yoo, TJ Tomoda, K Stuart, JM Kang, AH Townes, AS SO: Annals of Otology, Rhinology & Laryngology 1983 92:103-108
70 TI: Type II Collagen-Induced Autoimmune Sensorineural Hearing Loss and Vestibular Dysfunction in Rats COL AU: Yoo, TJ Tomoda, K Stuart, JM Cremer, MA Townes, AS Kang, AH SO: Annals of Otology, Rhinology & Laryngology 1983 92:267-271
73 TI: The Marshall and Stickler syndromes: objective rejection of lumping SSL/ AU: Ayme, S, Preus, MSYN SO: Journal of Medical Genetics 1984 Feb 21:34-38
74 TI: Heritable Diseases Of Collagen/Marfan Syndrome/Ehlers-Danlos COL AU: Prockop, DJ Kivirikko, KI SO: The New England Journal of Medicine Aug 9 1984 311(6):376-386
81 TI: Identification and characterization of the human type 11 collagen gene(COL2A1) SS/ AU: Cheah, KSE Stoker, NG Griffin, JR Grosveld, FG Solomon, ECOL SO: Proceedings of the National Academy of Science USA 1985 May 82:2555-2559
91 TI: Prevalence of Mitral-Valve Prolapse in the Stickler Syndrome SSL/ AU: Liberfarb, RM Goldblatt, A [OMIM-108300-SS Type I]HEA SO: American Journal of Medical Genetics 1986 Jul 24(3):387-392
92 TI: Collagen Gene Analysis in the Marfan and Stickler Syndromes [OMIM-108300 SS Type1]SS/ AU: Francomano, CA Le, P-L Liberfarb, R Streeten, E Pyeritz, RESYN SO: American Journal of Human Genetics 1986 39: A92 (Supp)
94 TI: Stickler’s syndrome: a study of 12 families [OMIM-108300-SS Type I] SSL AU: Spallone, A SO: British Journal of Ophthalmology 1987 Jul 71(7):504-509
99 TI: The Stickler Syndrome: Evidence for Close Linkage to the Structural Gene for Type II Collagen SSL/ AU: Francomano, CA Liberfarb, RM Hirose, T Maumanee, IH, et al [OMIM-108300-SS Type1]COL SO: Genomics 1987 Dec 1(4):293-296
100 TI: Otolaryngological manifestations of the Stickler syndrome
SSL AU: Lucarini, JW Liberfarb, RM Eavey, RD SO: Internat’l Journal of Pediatric Otorhinolaryngology 1987 Dec 14(2-3):215-222
102 TI: Cosegregation of Stickler syndrome and type II collagen gene alleles. SS AU: Francomano, CA Maumenee, I Liberfarb, R Pyeritz, RE SO: Cytogenetic & Cell Genetics 1987 46:615A
109 TI: The Stickler Syndrome is Closely Linked to COL2A1, the Structural Gene for Type II Collagen SSL AU: Francomano, CA Liberfarb, RM Hirose, T Maumanee, IH Streeton, EA Meyers, DA Pyeritz, RE SO: Pathology and Immunopathology Research 1988 7(1-2):104-106
110 TI: The Stickler and Wagner syndromes: Evidence for genetic heterogeneity SS AU: Francomano, CA Rowan, BG Liberfarb, RM Hirose, T Maumenee, IH Stoll, HU Pyeritz, RE SO: American Journal of Human Genetics 1988 43 (suppl):A83
111 TI: Type II Collagen Gene Analysis in the Epiphyseal Dysplasias SS AU: Francomano, CA Rowan, BG Maumenee, IH Liberfarb, RM Hirose, T Stoll,HU Pyeritz, RE SO: Clinical Genetics Conference: “Heritable Disorders of Connective Tissue and Skeletal Dysplasias” 1988 Jul 10-13 P.1
118 TI: Stickler’s syndrome [OMIM-108300- SS Type I] SSL AU: Temple, IK SO: Journal of Medical Genetics 1989 Feb 26(2):119-126
119 TI: Stickler’s syndrome. A report of a family SSL AU: Hill, JC Nelson, MM SO: South African Medical Journal 1989 Mar 4 75(5):238-241
121 TI: Thoracic Disc Herniation and Paraplegia in Stickler’s Syndrome SSL AU: Harkey, HL Cullom, ET Parent, AD SO: Neurosurgery 1989 Jun 24(6):909-912
129 TI: Non-allelic genetic heterogeneity in the vitreoretinal degenerations of the Stickler and Wagner types and evidence for SS/ intragenic recombination at the COL2A1 locus. SYN AU: Schwartz,RC Watkins,D Fryer,AE Goldberg,R Marion,R Polomeno,RC Spallone,A Upadhyaya,M Harper,P TsipourasP SO: American Journal of Human Genetics 1989 45:A218 (Suppl) [OMIM-108300-SS Type I]
131 TI: Hearing Loss in Stickler’s Syndrome: A Family Case Study SSL AU: Jacobson, J Jacobson, C Gibson, W SO: Journal of the American Academy of Audiology 1990 Jan 1(1):37-40
139 TI: Distinctive Cataract in the Stickler Syndrome [OMIM-108300-SS Type I] SSL AU: Seery, CM Pruett, RC Liberfarb, RM Cohen, BZ SO: American Journal of Ophthalmology 1990 Aug 15 110(2):143-148
146 TI: The Parental Experiences of Mothers of Adolescents with Hearing Impairments ENT AU: Morgan-Redshaw, M Wilgosh, L Bibby, MA SO: American Annals of the Deaf 1990 Oct 135(4): 293-298
147 TI: Stickler Syndrome SSL AU: Bennett, JT McMurray, SW SO: Journal of Pediatric Orthopaedics 1990 Nov-Dec 10(6):760-763
153 TI: Stickler Syndrome/Marshall Syndrome [Internet/website version only ]SS AU: [Boys Town National Research Register for Hereditary Hearing Loss] SO: Hereditary Deafness Newsletter of America 1990 Winter 2(4):4-6
161 TI: Genetic and Clinical Heterogeneity of Stickler Syndrome [OMIM-108300-SS Type I] SSL AU: Vintiner, GM Temple, IK Middleton-Price, HR Baraister, M Malcolm, S SO: American Journal of Medical Genetics 1991 Oct 41(1):44-48
165 TI: Variability of Stickler Syndrome [OMIM-108300-SS Type I]SSL AU: Ziotogora, J Sagi, M Schuper, A Leiba, H Merin, S SO: American Journal of Medical Genetics 1992 Feb 1 42(3):337-339
186 TI: Procollagen II Gene Mutation in Stickler Syndrome. SSL AU: Brown ,DM Nichols, BE Weingeist, TA Sheffield, VC Kimura, AE Stone, EM SO: Archives of Ophthalmology 1992 Nov 110(11):1589-1593
190 TI: Linkage Analysis of Stickler’s Syndrome And The Type II Procollagen Gene (ARVO abstract 506-12). SS AU: Fine, AM Wiggs, JL DeLaPaz, MA Berrocal, AM Mukai, S SO: Investigative Ophthalmology & Visual Science 1992 33(suppl):793
191 TI: Stickler Syndrome Report Of Four Cases.SSL AU: Kulkarni, MI Sureshkumar, C George, VG SO: Annals of Dentistry 1993 Jan/Winter 52(2):23-27
192 TI: Stickler’s Syndrome. SSL AU: Niffenegger, JH Topping, TM Mukai, S SO: International Ophthalmology Clinics 1993 Jan/Spring 33(2):271-280
203 TI: Stickler hereditary arthro-ophthalmopathy: a heterogenous phenotype. SS AU: Ragge, NK Cohn, DH, Wilkin, DJ, Chin, R Murphree, AL, Falk, RE SO: American Journal of Human Genetics 1993 Jul 53(1) suppl 490
228 TI: A Stickler syndrome gene is linked to chromosone 6 near the COL11A2 gene. SSL AU: Brunner, HG van-Beersum, SEC Warman, ML Olsen, BR, Ropers, H-H Mariman, ECM SO: Human Molecular Genetics 1994 Sep 3(9):1561-1564
234 TI: Type II Collagen Mutations in Rare and Common Cartilage Diseases. COL AU: Vikkula, M Metsarenta, M Alo-Kokko, L SO: Annals of Medicine 1994 26:107-114
260 TI: Stickler Syndrome: A Mutation in the Nonhelical 3’ End of Type II Procollagen Gene.SSL AU: Ahmad, NN Dimascio, J Knowlton, RG Tasman ,WS SO: Archives of Ophthalmology 1995 Nov 113:1454-1457
280 TI: Stickler Syndrome Type 2 and Linkage to the COL11A1 Gene SSL AU: Snead, MP Yates, JRW Williams, R Payne, SJ Pope, FM Scott, JD SO: Annals of the New York Academy of Sciences 1996 Jun 8 785:331-332
283 TI: Book Review: Stickler – The Elusive Syndrome by Wendy Hughes SS AU: Snead, M SO: British Journal of Ophthalmology 1996 Jun 80(6):580
289 TI: A family with Stickler syndrome type 2 has a mutation in the COL11A1gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.SSL AU: Richards, AJ Yates, JR Williams, R Payne, SJ Pope, FM Scott, JD Snead, MPSO: Human Molecular Genetics 1996 Sep 1 5(9):1339-1343
292 TI: Long-term Follow-up of Ocular Findings in Children With Stickler’s Syndrome SSL AU: Wilson, McDonald-McGinn, Quinn, Markowitz, LaRossa, Pacuraru, Zhu, Zackai SO: American Journal of Ophthalmology 1996 Nov 727-728
293 TI: Masked confirmation of linkage between type 1 congenital vitreous anomaly and COL 2A1 in Stickler syndrome SSL AU: Snead, MP Yattes, JRW Pope, FM Temple IK Scott, JD SO: Graefes Arch Clin Exp Ophthalmology 1996 Nov 1 234(11):720-721
294 TI: Retinal detachment in identical twins with Stickler syndrome type 1 SSL AU: Watanabe, Y Ueda, M Adachi-Usami, E SO: British Journal of Ophthalmology 1996 Nov 1 80(11):976-981
321 TI: Stickler Syndrome SSL AU: MacDonald, MR Kolodziej, P Schaefer, GB Olney, AH SO: Ear, Nose &Throat Journal 1997 Oct 1 76(10):706
331 TI: Stickler Syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha 2 (XI) chain of type XI collagen SSL AU: Sirko-Osadsa, DA Murray, MA Scott, JA Lavery, MA Warman, ML Robin, NH SO: The Journal of Pediatrics 1998 Feb, 132(2):368-371
338 TI: Marshall Syndrome Associated with a Splicing Defect at the COL11A1Locu SSL AU: Griffith, AJ Sprunger, LK Sirko-Osadsa, DA Tiller, GE Meisler, MH Warman, MLSYN SO: American Journal of Human Genetics 1998 Apr 62:816-823
404 TI: Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity SSL AU: Martin, S Richards, AJ Yates, JRW Scott, JD Pope, M Snead, MP SO: European Journal of Human Genetics 1999 Oct-Nov 7(7):807-814
408 TI: Molecular Diagnosis of Stickler Syndrome: A COL2A1 Stop Codon Mutation Screening Strategy That Is Not Compromised by Mutant mRNA Instability.SSL AU: Freddi S, Savarirayan R, Bateman JF SO: American Journal of Medical Genetics. 2000 Feb 28; 90(5):398-406.
409 TI: Hearing Loss in the Nonocular Stickler Syndrome Caused by a COL11A2 Mutation.SSL AU: Admiraal RJ, Brunner HG, Dijkstra TL, Huygen PL, Cremers CW. SO: The Laryngoscope. 2000 Mar 110(3 Pt 1):457-461
410 TI: The Stickler syndrome: case reports and literature review. SSL AU: Bowling EL, Brown MD, Trundle TV.SO: Optometry. 2000 Mar 71(3):177-182.
414 TI: COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes SSL AU: Richards AJ, Martin S, Yates JR, Scott JD, Baguley DM, Pope FM, Snead MP. SO: British Journal of Ophthalmology. 2000 Apr 84(4):364-371
419 TI: Rapid Determination of COL2A1 Mutations in Individuals With Stickler Syndrome: Analysis of Potential Premature Termination Codons.SSL AU: Wilkin DJ, Liberfarb R, Davis J, Levy HP, Cole WG, Francomano CA, Cohn DH. SO: American Journal of Medical Genetics 2000 Sep 11;94(2):141-148.
443 TI: The Hip in Stickler SyndromeSSL AU: Rose PS, Ahn NU, Levy HP, Magid D, Davis J, Liberfarb RM, Sponseller PD, Francomano CA. SO: Journal of Pediatric Orthopaedics 2001 Sep-Oct;21(5):657-663.
444 TI: Auditory Dysfunction in Stickler Syndrome. SSL AU: Szymko-Bennett YM, Mastroianni MA, Shotland LI, Davis J, Ondrey FG, Balog JZ, Rudy SF, McCullagh L, Levy HP, Liberfarb RM, Francomano CA, Griffith AJ. SO: Archives of Otolaryngology Head and Neck Surgery 2001 Sep; 127(9):1061-1068.
481 TI: The Stickler syndrome: Genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.SSL AU: Liberfarb, RM Levy, HP Rose, PS Wilkin, DJ Davis, J Balog, JZ Griffith, AJ Szymko-Bennett, YM Johnston, JJ Francomano, CA SO: Genetics in Medicine. 2003 Jan-Feb 5(1):21-27
490 TI: Management of Genetic Syndromes 2nd Edition (Cassidy S, Allanson J, eds) AU: Francomano CA, Wilkin DJ, Liberfarb RM SO: New York, Wiley Liss: 2005 Ch. 45 Stickler Syndrome: p.539-546.
511 TI: Stickler syndrome: Clinical Characteristics and Diagnostic Criteria SSL AU: Rose, PS Levy HP, Liberfarb RM, Davis J, Szymko-Bennett Y, Rubin BI, Tsilou E, Griffith AJ, Francomano CA, SO: American Journal of Medical Genetics (A). 2005 Oct 15 138 (3):199-207
513 TI: Type 1 Stickler syndrome: a histological and ultrastructural study of an untreated globe. SSL AU: Macrae ME, Patel DV, Richards AJ, Snead MP, Tolmie J. Lee WR SO: Eye. 2005 Dec 2; [Epub ahead of print]
514 TI: A novel mutation in intron 11 of the COL2A1 gene in a patient with type 1 Stickler syndrome SSL AU: Leung L, Hyland JC, Young A, Goldberg MF, Handa JT SO: Retina. 2006 Jan;26(1):106-9. No abstract available.