Stickler Syndrome References

Here is an organized list of the references I've located so far:

Stickler References

Collagen Type II (COL2A1) Stickler Research

• Stickler syndrome, A mutation in the nonhelical 3' end of type II procollagen gene. Ahmad et al, Wills Eye Hospital, Philadelphia, PA. Arch. Ophthalmol., 1995 Nov, v.113, p.1454. (ID 96049005)
• Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy). Brown et al, Dept. of Ophthamology, University of Iowa College of Medicine, Iowa City, IA. Hum. Mol. Genet., 1995 Jan, v.4, p.141. (ID 95227170)
• Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL2A1. Snead et al, Molecular Genetics Laboratory, Addenbrooke's NHS Trust, Cambridge, UK. Eye, 1994, v.8, p.609. (ID 95172252)
• A second mutation in the type II procollagen gene (COL2A1) causing Stickler syndrome (arthro-ophthalmopathy), is also a premature termination codon. Ahmad et al, Dept. of Biochemistry and Molecular Biology, Jefferson Medical College, Philadelphia, PA. Am. J. Hum. Genet., 1993 Jan, v.52, p.39. (ID 93167290)
• Genetic and clinical heterogeneity of Stickler syndrome, Vintiner et al, Mothercare Dept. of Paediatric Genetics, Institute of Child Health, London, England. Am. J. Med. Genet., 1991 Oct, v.41, p.44. (ID 92059170)
• Amplification of the COL2A1 3' variable region used for segregation analysis in a family with the Stickler syndrome. Priestley et al, Collagen Genetics Group, University of Oxford, John Radcliffe Hospital, UK. Hum. Genet., 1990 Oct, v.85, p.525. (ID 91033786)
• A stop codon in the gene for type II procollagen (COL2A1) causes one variant of arthro-ophthalmopathy (the Stickler syndrome). Ahmad et al. Am. J. Hum. Genet., 1990, v.47 suppl., p.A206.
• Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene. Knowlton et al, Dept. of Biology and Molecular Biology, Thomas Jefferson University, Philadelphia, PA. Am. J. Hum. Genet., 1989, v.45, p.681. (ID 90053583)
• Linkage analysis of the type II collagen gene (COL2A1) and hereditary arthro-ophthalmopathy (AOM) in three large families. Weaver et al. Cytogenet. Cell Genet., 1989, v.51, p.1103.
• The Stickler syndrome is closely linked to COL2A1, the structural gene for type II collagen. Francomano et al, Dept. of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD. Pathol. Immunopathol. Res., 1988, v.7, p.104. (ID 89128686)
• The Stickler syndrome: evidence for the close linkage to the structural gene for type II collagen. Francomano et al, Dept. of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD. Genomics, 1987, v.1, p.293. (ID 88212435)
• Cosegregation of Stickler syndrome and type II collagen gene alleles. Francomano et al. Cytogenet. Cell Genet., 1987, v.46, p.615. (ID 88212435)

Collagen Type II (COL2A1) Stickler Case Reports

• Prenatal exclusion of Stickler syndrome. Zlotogora et al, Dept. of Human Genetics, Hadassah Medical Center, Jerusalem, Israel. Prenat. Diagn., 1994 Feb, v.14, p.145. (ID 94240054)
• A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis. Ritvaniemi et al, Collagen Research Unit, University of Oulu, Finland. Genomics, 1993 Jul, v.17, p.218. (ID 94010890)
• Procollagen II gene mutation in Stickler syndrome. Brown et al, Dept. of Ophthamology, University of Iowa Hospitals and Clinics, Iowa City, IA. Arch. Ophthamol., 1992 Nov, v.110, p.1589. (ID 93074566)
• Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene. Bonaventure et al, CNRS Clinique M. Lamy, Hospital Necker, Paris, France. Hum. Genet., 1992 Sept-Oct, v.90, p.164. (ID 93052226)
• Stop codon in the procollagen II gene (COL2A1) in a family with Stickler syndrome (arthro-ophthalmopathy), Ahmad et al, Dept. of Biochemistry and Molecular Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA. Proc. Natl. Acad. Sci. USA, 1991 Aug, v.88, p.6624. (ID 91319736)

Collagen Type XI (COL11A2) Stickler Research and Case Reports

• Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Vikkula et al, Department of Cell Biology, Harvard Medical School, Boston, MA. Cell, 1995 Feb, v.80, p.431. (ID 95163096)
• A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene. Brunner et al, Dept. of Human Genetics, University Hospital, Nijmegen, The Netherlands. Hum. Mol. Genet., 1994, v.3, p.1561. (ID 95135409)

General Stickler Research

• The arthropathy of hereditary arthroophthalmopathy (Stickler syndrome). Lewkonia, Dept. of Medicine, University of Calgary, AB, Canada. J. Rheumatol., 1992 Aug, v.19, p.1271. (ID 93020826)
• Stickler's syndrome. Temple. J. Med. Genet., 1989, v.26, p.119.
• Prevalence of mitral-valve prolapse in the Stickler syndrome. Liberfarb et al. Am. J. Med. Genet., 1986, v.24, p.387. (ID 86265779)
• Ocular and systemic manifestations of Stickler's syndrome: a preliminary report. Weingeist et al. Birth Defects, 1982, v.18, p.539. (ID 83075745)
• The Stickler syndrome (hereditary arthro-ophthalmopathy). Say et al. Clin. Genet., 1977, v.12, p.179.
• Stickler syndrome (hereditary arthro-ophthalmopathy). Gellis et al. Am. J. Dis. Child., 1976, v.130, p.65.
• Stickler syndrome presenting as a syndrome of cleft palate, myopia and blindness inherited as a dominant trait. Hall. Birth Defects, 1974, v.10, p.157. (ID 75147095)
• Stickler's syndrome (hereditary progressive arthro-ophthalmopathy). Popkin et al. Can. Med. Assoc. J., 1974, v.111, p.1071. (ID 75037327)
• Hereditary arthro-ophthalmopathy. Spranger. Ann. Radiol., 1968, v.11, p.359.
• Hereditary progressive arthro-ophthalmopathy. Stickler et al. Mayo Clin. Proc., 1965, v.40, p.433.

General Stickler Case Reports

• Hereditary arthro-ophthalmopathy (Stickler syndrome): a diagnosis to consider in familial premature osteoarthritis. Rai et al, Dept. of Rheumatology, Coventry and Warwickshire Hospital, UK. Br. J. Rheumatol., 1994, v.33, p.1175. (ID 95093861)
• [Vitreoretinal changes in siblings of two patients with Stickler syndrome: Study of two families] Langmann et al, Universitats-Augenklinik Graz. Ophthalmologe, 1993 Oct, v.90, p.506. (ID 94034074)
• Variability of Stickler Syndrome. Zlotogora et al, Dept. of Human Genetics, Hadassah Medical Center, Kaplan Hospital, Rehovot, Israel. Am. J. Med. Genet., 1992 Feb, v.42, p.337. (ID 92160834)
• [Stickler syndrome: Apropos of a case] Ziegler et al, Service de Rhumatologie, Hospital de l'Archet, Nice, France. Rev. Rhum. Mal. Osteoartic., 1988, v.55, p.1009. (ID 89186540)
• [Stickler's syndrome or hereditary progressive arthro-ophthalmopathy] De la Chapel et al, Service de pediatre et genetique medicale, Hospital Claude-Huriez, CHRU, Lille, France. Pediatre, 1988, v.43, p.305. (ID 88335455)
• Stickler's syndrome: a study of 12 families. Spallone. Brit. J. Ophthal., 1987, v.71, p.504.
• [Stickler syndrome] Alvarez de Santos et al. Bol. Med. Hosp. Infant Mex., 1986, v.43, p.250. (ID 86215511)
• Stickler's syndrome. Nielsen. Acta. Ophthalmol. (Copenh.), 1981, v.59, p.286. (ID 81252080)
• Hereditary progressive arthro-ophthalmopathy of Stickler. Blair et al. Am. J. Ohthalmol., 1979, v.88, p.876. (ID 80062648)
• Hereditary arthro-ophthalmopathy (the Stickler syndrome): report of a kindred with protrusio acetabuli. Beals. Clin. Orthop., 1977, v.125, p.32.
• [Stickler's syndrome: case report with intrafamilial variability] Groebe et al. J. Genet. Hum., 1976, v.24 suppl, p.249. (ID 77167193)
• The Stickler syndrome (hereditary arthroophthalmopathy). Herrmann et al. Birth Defects, 1975, v.11, p.76. (ID 76206600)
• The Stickler syndrome. Opitz. New Eng. J. Med., 1972, v.286, p.546.
• Hereditary progressive arthro-ophthalmopathy; II: Additional observations on vertebral abnormalities, a hearing defect, and a report of a similar case. Stickler et al. Mayo Clin. Proc., 1967, v.42, p.495.

Stickler Clinical Studies

• Electron microscopic study on the vitreous membrane of the Stickler syndrome. Miyashita et al, Department of Ophthalmology, Tokai University School of Medicine, Kanagawa-ken, Japan. Nippon Ganka Gakkai Zasshi, 1994 Jan, v.98, p.86. (ID 94152510)
• [Hypertrophic cardiomyopathy (probably secondary) in an infant with Stickler's syndrome: the physiopathological aspects] Distefano et al, Servizio Autonomo di Cardiologia Pediatrica, Policlinico, Universita di Catania, Italia. Pediatr. Med. Chir., 1993 Mar-Apr, v.15, p.209. (ID 93310102)
• [A case of Stickler's syndrome] Starzyca et al, Katedry i Kliniki Okulistyki AM, Krakowie, Poland. Klin. Oczna., 1993 Mar-Apr, v.95, p.130. (ID 93390014)
• Osteochondritis dissecans of the knee in an adult with Stickler Syndrome. Trepman, Dept. of Orthopaedics and Rehabilitation, Yale University School of Medicine, New Haven, CT. Orthop. Rev., 1993 Mar, v.22, p.371. (ID 93234120)
• Sticker's syndrome. Niffenegger et al. Int. Ophthal. Clin., 1993 Spring, v.33, p.271. (ID 93315287)
• Stickler syndrome: report of four cases. Kulkarni et al, Dept. of Paediatrics, JJM Medical College, Karnataka, India. Ann. Dent., 1993 Winter, v.52, p.23. (ID 94091776)
• Unusual occurence of cervical myelopathy in a case of Stickler's syndrome. Noel et al, Dept. of Neurology, Hospital Universitaire, Brussels, Belgium. J. Med. Genet., 1992 Mar, v.29, p.200. (ID 92203315)
• [Stickler's syndrome] Gos et al, Kliniki Okulistycznej WAM w Lodzi, Poland. Klin. Oczna, 1992 Jan, v.94, p.32. (ID 92341723)
• Intraarticular lipoma in Stickler Syndrome. Chambers et al, Brooke Army Medical Center, Joint Military Medical Command, San Antonio, Fort Sam Houston, TX. Orhtopedics, 1990 May, v.13, p.563. (ID 90280303)
• Distinctive cataract in the Stickler Syndrome. Seery et al, Retina Association, Eye Research Institute, Boston MA. Am. J. Ophthalmol., 1990 Aug 15, v.110, p.143. (ID 90334186)
• Congenital myopia in Stickler's hereditary arthro-ophthalmopathy. Wang et al, Dept. Of Ophthamology, Montefiore Medical Center, Albert Einstein College of Medicine, NY, NY. Am. J. Ophthalmol., 1990 Oct 15, v.110, p.435. (ID 91022946)
• Stickler's Syndrome in the Cleft Palate Clinic. Kronwith et al, Children's Hospital of Philadelphia, Dept. Of Ophthalmology, PA. J. Pediatr. Ophthalmol. Strabismus, 1990 Sept-Oct, v.27, p.265. (ID 91061254)
• Stickler Syndrome. Bennett et al, Tulane University School of Medicine, Dept. of Orthopaedics, New Orleans, LA. J. Pediatr. Orthop., 1990 Nov-Dec, v.10, p.760. (ID 91066012)
• Hearing loss in Stickler's syndrome: a family case study. Jacobson et al, Dept. of Otolaryngology, Geisinger Medical Center, Danville, PA. J. Am. Acad. Audiol., 1990 Jan, v.1, p.37. (ID 92089604)
• Management of retinal detachment in the Wagner-Stickler syndrome. Billington et al. Transactions Ophthalmol. Soc. UK, 1985, v.104, p.875.
• Stickler's syndrome or hereditary progressive arthro-ophthalmopathy. Vallat et al. Journal Fr. Ophthalmol., 1985, v.8, p.301.

Combined (Stickler+related syndrome) References

Combined Research

• Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy). Korkko et al, Collagen Research Unit, University of Oulu, Finland. Am. J. Hum. Genet., 1993 Jul, v.53, p.55. (ID 93304428)
• Non-allelic genetic hetergeneity in the vitreoretinal degenerations of the Stickler and Wagner types and evidence for intragenic recombination at the COL2A1 locus. Schwartz et al. Am. J. Hum. Genet., 1989, v.45, p.A218.
• The Stickler and Wagner syndromes: evidence of genetic heterogeneity. Francomano et al. Hum. Genet., 1988, v.43, p.A83. (ID 88212435)
• Collagen gene linkage analysis in the Marfan and Stickler syndromes. Francomano et al. Am. J. Hum. Genet., 1986, v.39, p.A92.
• The Marshall and Stickler syndromes: objective rejection of lumping. Ayme et al. J. Med. Genet., 1984, v.21, p.34. (ID 84114789)
• The Weissenbacher-Zweymuller, Stickler, and Marshall syndromes: further evidence for their identity. Winter et al. Am. J. Med. Genet., 1983, v.16, p.189.
• The Wagner-Stickler syndrome. Liberfarb et al. Birth Defects, 1982, v.18, p.525. (ID 83075743)
• The Wagner-Stickler syndrome--a genetic study. Liberfarb et al. Birth Defects, 1979, v.15, p.145. (ID 80110055)

Combined Case Reports

• [Marshall syndrome--case report] Liska et al, Kliniki Okulistycznej AM w Pozananiu, Poland. Klin. Oczna., 1995 Jan-Feb, v.97, p.27. (ID 95364322)
• [Prevention of retinal detachment in Wagner-Stickler disease: Comparative study of different methods, apropos of 22 cases] Monin et al, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris, France. J. Fr. Ophtalmol., 1994, v.17, p.167. (ID 94238097)
• Kniest and Stickler dysplasia phenotypes caused by Collagen type II gene (COL2A1) defect. Winterpacht et al, Children's Hospital, University of Mainz, Germany. Nat. Genet., 1993 Apr, v.3, p.323. (ID 95072656)
• Comparison of the craniofacial characteristics of two syndromes associated with the Pierre Robin sequence. Glander et al, Albert Einstein College of Medicine, Bronx, New York. Cleft Palate Craniofac. J., 1992 May, v.29, p.210. (ID 92273609)
• The Weissenbacher-Zweymuller phenotype in the neonatal period as an expression in the continuum of manifestations of the hereditary arthro-ophthalmopathies. Scribanu et al, Dept. of Pediatrics, Georgetown University Medical Center, Washington, DC. Ophthalmic Paediatr. Genet., 1987, v.8, p.159. (ID 88143556)
• Marshall/Stickler syndrome. Baraitser. J. Med. Genet., 1982, v.19, p.139. (ID 82192321)
• The Weissenbacher-Zweymuller syndrome: possible neonatal expression of the Stickler syndrome. Kelly et al. Am. J. Med. Genet., 1982, v.11, p.113. (ID 82157224)
• The Wagner-Stickler syndrome: a study of 22 families. Liberfarb et al. J. Pediatr., 1981, v.99, p.394. (ID 81266576)
• The Stickler syndrome in a family with the Pierre Robin syndrome and severe myopia. Turner. Aust. Paediat. J., 1974, v.10, p.103.

Related References

Collagen Type II (COL2A1) Related Research

• Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type, Tiller et al, Dept. of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN. Nat. Genet., 1995 Feb, v.11, p.87. (ID 96021039)
• Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14. Brown et al, Dept. of Ophthamology, University of Iowa College of Medicine, Iowa City, IA. Arch. Ophthalmol., 1995 May, v.113, p.671. (ID 95267019)
• Marshall syndrome. Stratton et al, Dept. of Pediatrics, Wilfort Hall, U.S. Air Force Medical Center, Lackland Air Force Base, TX. Am. J. Med. Genet., 1991 Oct, v.41, p.35. (ID 92059168)
• Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome. Fryer et al, Institute of Medical Genetics, University Hospital of Wales, Health Park, Cardiff, UK. J. Med. Genet., 1990 Feb, v.27, p.91. (ID 90204510)

Collagen Type II (COL2A1) Related Case Reports

• A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691->Arg) in the type II collagen trimer. Mortier et al, Ahmanson Pediatric Center, Cedars-Sinai Medical Center, Los Angeles, CA. Hum. Mol. Genet., 1995 Feb, v.4235, p.285. (ID 95276744)
• Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia. Spranger et al, Children's Hospital, University of Mainz, Germany. Pediatr. Radiol., 1994, v.24, p.431. (ID 95215158)
• An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congentia. Tiller et al, Dept. of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN. Am. J. Hum. Genet., 1995, v.56, p.388. (ID 95150028)

General Related Research and Case Reports

• [Two cases of Kneist dysplasia - ocular manifestations] Kagotani et al, Ophthalmic Division, Kobe Children's Hospital, Japan. Nippon Ganka Gakkai Zasshi, 1995 Mar, v.94, p.376. (ID 95250599)
• Molecular cloning and in situ localization of the human contactin gene (CNTN1) on chromosome 12q11-q12. Berglund et al, La Jolla Cancer Research Foundation, San Diego, CA. Genomics, 1994, v.21, p.571. (ID 95048335)
• Pierre Robin: a personal diary. Perlman, Center for Craniofacial Disorders, Montefiore Medical Center, Bronx, New York. Cleft Palate Craniofac. J., 1993 Jan, v.30, p.104. (ID 92273607)
• Weissenbacher-Zweymuller syndrome: a distinct autosomal recessive skeletal dysplasia. Chemke et al, Clinical Genetics Unit, Kaplan Hospital, Rehovot, Israel. Am. J. Med. Genet., 1992 Aug, v.43, p.989. (ID 93030826)
• Kniest (Wagner-Stickler variant) and Goldmann-Favre disease in one sibship. Neetens. Bull. Soc. Belge Ophtalmol., 1987, v.223-2, p.27. (ID 89001539)
• Genetic counseling of families with Marfan syndrome and other disorders showing a Marfanoid body habitus. Bard et al. Ophthalmology, 1979, v.86, p.1764. (ID 81075909)
• Hyalo-retinopathy in the clefting syndrome. Daniel et al. Brit. J. Ophthal., 1974, v.58, p.96.
• A dominantly inherited syndrome of hyaloideoretinal degeneration, cleft palate and maxillary hypoplasia (Cervenka syndrome). Cohen et al. Birth Defects, 1971, v.7, p.83. (ID 75109666)
• Pierre Robin syndrome in brothers. Smith. Birth Defects Orig. Art. Ser., 1969, v.V2, p220.
• Gleichzeitiges Vorkommen eines Syndroms von Peirre Robin und einer fetalen Chrondrodysplasie. Weissenbacher et al. Mschr. Kinderheilk., 1964, v.112, p.315.
• Ueber einen dominanten Erbgang bei einer polytopen enchondralen Dysostose Typ Pfaundler-Hurler. David et al. Z. Orthop., 1953, v.84, p.657.

General References

Collagen Type II (COL2A1) General Research

• Identification of COL2A1 gene mutations in patients with chondrodysplasias and familial osteoarthritis. Ritvaniemi et al, Jefferson Medical College of Thomas Jefferson University, Philadelphia, PA. Arthritis Rheum., 1995 Jul, v.38, p.999. (ID 95336495)
• Heritable diseases of cartilage caused by mutations in collagen genes. Williams et al, Dept. of Medicine, Jefferson Medical Center, Thomas Jefferson University, Philadelphia, PA. J. Rheumatol. Suppl., 1995 Feb, v.43, p.28. (ID 95271550)
• The type II collagenopathies: a spectrum of chondrodysplasias. Spranger et al, Universitats-Kinderklinik, Mainz, Germany. Eur. J. Pediatr., 1994 Feb, v.153, p.56. (ID 94208560)
• Molecular basis of heritable connective tissue disease. Vandenberg, Dept. of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA. Biochem. Med. Metab. Biol., 1993 Feb, v.49, p.1. (ID 93176498)
• Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen. Godfrey et al, Shriners Hospital for Crippled Children, Portland, OR. Am. J. Hum. Genet., 1988, v.43, p.904. (ID 89060284)

Collagen Type XI (COL11A2) General Research

• Transgenic mouse models in studies of skeletal disorders. Jacenko et al, Dept. of Cell Biology, Harvard Medical School, Boston, MA. J. Rheumatol. Suppl., 1995 Feb, v.43, p.39. (ID 95271554)

Other General Research

• Hereditary vitreoretinal dystrophy associated with peripheral neuropathy. Ettl et al, University of Innsbruck, Austria. Graefes. Arch. Clin. Exp. Ophthalmol., 1994 Jun, v.232, p.330. (ID 94364559)
• Acquired peripheral retinal telangiectasia after retinal surgery. Gray et al, Moorfields Eye Hospital, London, UK. Retina, 1994, v.14, p.10. (ID 94286948)
• [Prevention of non-traumatic retinal detachment by surgical cerclage: Apropos of 20 cases] Monin et al, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris, France. J. Fr. Ophtalmol., 1993, v.16, p.247. (ID 93315787)
• Prevalence of dominant mutations in Spain: effect of changes in maternal age distribution. Martinez-Frias et al, Estudio Colaborativo Espanol de Malformaciones Congenitas (ECEMC), Facultad de Medicina, Universidad Complutense, Madrid, Spain. Am. J. Med. Genet., 1988, v.31, p.845. (ID 89190766)
• Pattern recognition in bone dysplasias. Spranger. Prog. Clin. Biol. Res., 1985, v.200, p.315. (ID 86094563)
• Hereditary degeneration, cleft lip and palate, deafness, and skeletal dysplasia. Regenbogen et al. Am. J. Ophthal., 1980, v.89, p.414. (ID 80172706)
• Ocular anomalies in malformation syndromes. Opitz. Trans. Am. Acad. Ophthal. Otolaryng., 1972, v.76, p.1193. (ID 73248685)
• A syndrome of nerve deafness, eye anomalies and marfaniod habitus with autosomal dominant inheritance. Walker. Birth Defects Orig. Art. Ser., 1971, v.VII4, p.137.

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