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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 COL11A1 gene 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 COL11A1 Locu  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.