Page last updated: 2024-08-22

trolamine salicylate and Retinal Pigment Epithelial Detachment

trolamine salicylate has been researched along with Retinal Pigment Epithelial Detachment in 132 studies

Research

Studies (132)

Timeframe	Studies, this research(%)	All Research%
pre-1990	4 (3.03)	18.7374
1990's	0 (0.00)	18.2507
2000's	0 (0.00)	29.6817
2010's	71 (53.79)	24.3611
2020's	57 (43.18)	2.80

Authors

Authors	Studies
Freiría-Barreiro, R; Montero-Hernández, J; Ortiz-Salvador, M	1
Cecere, M; Pesci, FR; Ripandelli, G; Rossi, T; Stirpe, M	1
Alexander, P; Bale, P; Blackwell, AM; Brown, S; Martin, H; McNinch, AM; Nixon, TRW; Poulson, AV; Richards, AJ; Shenker, N; Snead, MP	1
Choi, SI; Han, J; Jang, JH; Joo, K; Kim, SJ; Lee, BJ; Lim, HT; Oh, BL; Park, JY; So, MK; Woo, SJ	1
Blair, MA; Blair, MP; Khanna, S; Rodriguez, SH; Shapiro, MJ; Wroblewski, K	1
Belin, PJ; Naravane, AV; Pierce, B; Quiram, PA	1
Dong, H; Gong, Y; Liu, N; Liu, X; Shen, S; Tian, M; Wang, L; Zhang, R; Zhang, X; Zheng, C; Zheng, QY; Zheng, T; Zheng, Y	1
Abedini, S; Ahmadieh, H; Daftarian, N; Doosti, M; Hashemi, N; Karimiani, EG; Loum, S; Moghaddasi, A; Murphy, D; Najafi, M; Rad, A; Rajati, M; Sabbaghi, H; Schmidts, M; Suri, F; Vona, B	1
Traboulsi, EI	1
Asano, M; Kimoto, K; Kondo, H; Kubota, T; Matsushita, I; Oku, K; Yokoyama, K	1
Alexander, P; Martin, H; McNinch, A; Richards, AJ; Snead, MP; Soh, Z	1
Bhende, M; Bhende, P; Kandale, K; Kandeeban, S; Periyasamy, P; Sarangapani, S; Sinnakaruppan, M	1
Fang, X; Kong, X; Liu, N; Zhu, C	1
Alexander, P; Martin, H; Nixon, TRW; Richards, AJ; Snead, MP	1
Alexander, P; Snead, MP	1
Kuhn, F; Morris, RE	1
Acke, FRE; De Leenheer, EMR	1
Ellington, M; Francomano, CA	1
Barrette, LX; Lee, C; Silverman, BL; Van Pelt, AL	1
Alexander, P; Brown, S; Collins, D; Fincham, GS; Martin, H; McNinch, AM; Poulson, AV; Richards, A; Snead, MP; Wareham, N	1
Chang, Q; Gao, FJ; Hu, FY; Jiang, R; Li, JK; Wang, DD; Wu, JH; Xu, P; Zhang, SH	1
Fujimoto, K; Hayashi, T; Imagawa, M; Kondo, H; Matsushita, I; Nagata, T; Oku, K	1
Alexander, P; Matta, B; McNinch, AM; Richards, AJ; Snead, MP; Stubbs, DJ; Zimmermann, J	1
Cohen, MA; Jackson, OA; Jawad, AF; Kaye, AE; Kirschner, RE; Lee, A; McDonald-McGinn, D; Minugh-Purvis, N; Solot, CB; Zackai, EH	1
Hagen, M; Karempelis, P; Morrell, N; Roby, BB	1
Gao, FJ; Hu, FY; Wang, DD; Wu, JH; Xu, P; Zhang, SH	1
Chen, C; Ding, X; Huang, L; Huang, S; Li, S; Luo, X; Sun, L; Wang, Z	1
Jia, X; Li, S; Sun, W; Xiao, X; Zhang, Q	1
Boysen, KB; Kessel, L; La Cour, M	1
Breazzano, MP; Tezel, TH; Tsang, SH	1
Balaščáková, M; Boday, A; Čopíková, J; Havlovicová, M; Hořínová, V; Kantorová, E; Křečková, G; Kremlíková Pourová, R; Lišková, P; Meszarosová, AU; Paděrová, J; Pospíšilová, J; Románková, V; Simandlová, M; Štěpánková, J; Turnovec, M; Vejvalková, Š; Votýpka, P; Zelinová, M	1
Al-Kouatly, HB; Gomez, J; Makhamreh, MM; Rice, SM	1
Jang, JW; Jeon, SY; Kang, SY; Kim, SW; Kwon, OE; Min, JY	1
Bargiacchi, S; Brizola, E; Giglio, S; Gnoli, M; La Barbera, A; Nucci, P; Sangiorgi, L; Tremosini, M	1
Abbs, S; Alexander, P; Lomas, A; McNinch, A; Nixon, T; Richards, AJ; Snead, MP; Vasudevan, P	1
Bricel, S; Hwang, T; Ing, E; Lambert, N; Tehrani, S; Walters, A	1
Fujimoto, K; Hayashi, T; Imagawa, M; Kimoto, K; Kondo, H; Kuniyoshi, K; Kusaka, S; Matsushita, I; Nagata, T; Ohji, M; Oku, K	1
Chen, C; Ding, X; Huang, L; Li, S; Luo, X; Sun, L; Wang, Z; Zhang, T	1
Janssen, EJM; Stegmann, APA; Stumpel, CTRM	1
Alexander, P; Baguley, DM; Fincham, GS; Gomersall, P; McNinch, A; Poulson, A; Richards, A; Snead, M; Stancel-Lewis, J	1
Deramo, VA; Fastenberg, DM; Ferrone, PJ; Greaves, GH; Lee, AC; Rosenblatt, BJ; Shakin, EP	1
Casa, SD; Cipolla, C; De Rose, C; Leoni, C; Onesimo, R; Ricci, D; Salerni, A; Zampino, G	1
Belcher, RH; Kimura, K; Phillips, J; Wessinger, B	1
Andréasson, S; Brobeck, C; Kjellström, U; Martell, S	1
Amer, R; Kimchi, A; Levy, J; Meiner, V; Navarrete, A; Yahalom, C	1
Barale, PO; Bernabei, F; Bremond-Gignac, D; Brezin, A; Burin-Des-Roziers, C; Guerrier, G; Laplace, O; Monin, C; Philippakis, E; Rothschild, PR; Valleix, S; Xerri, O	1
Borovikov, A; Dadali, E; Markova, T; Nagornova, T; Sparber, P	1
Gong, W; Liu, L; Lv, Z; Wu, H; Yang, B; Zhang, S	1
Chu, FC; Hii, LY; Hsieh, TT; Hung, TH; Lo, LM; Shaw, SW	1
Ayers, DC; Yousef, MA	1
Abdulwahab, F; AlAbdi, L; AlBadr, FB; Alkuraya, FS; Hashem, M; Helaby, R; Khan, AO; Patel, N	1
Ba'th, F; Chinnadurai, S; Roby, BB; Swanson, D; Zavala, H	1
Bath, F; Chinnadurai, S; Roby, BB; Swanson, D; Zavala, H	1
Bhoj, EJ; Bly, R; Chen, ML; Cielo, CM; Dahl, J; Evans, KN; Hakonarson, H; Hing, AV; Jackson, O; Li, D; McDonald-McGinn, DM; Parish-Morris, J; Perkins, J; Sie, K; Taylor, JA; Wenger, TL; Zackai, E	1
Baiyasi, A; Barbosa, J; Lin, X; Parendo, A	1
Che, S; Cheng, Y; Li, S; Liu, Z; Wu, H; Xiao, J	1
Hughes, A; Jorcyk, CL; Oxford, AE; Oxford, JT; Tawara, K	1
Hasegawa, K; Higuchi, Y; Tanaka, H; Tsukahara, H; Yamashita, M	1
Abreu Reyes, JA; Cordovés Dorta, L; Gómez Resa, M; Losada Castillo, MJ; Rocha Cabrera, P; Serrano García, MA	1
Bousalah, M; Hamma, A	1
Bearcroft, PWP; McArthur, N; McNinch, AM; Poulson, AV; Rehm, A; Richards, AJ; Shenker, N; Snead, MP; Tanner, J	1
Chen, C; Gao, H; Huang, X; Huang, Y; Jin, C; Li, H; Li, T; Liang, X; Lin, Y; Liu, B; Lu, L; Lyu, C; Wu, Q; Zhu, Y	1
Besirli, CG; Bohnsack, BL; Branham, KH; Wubben, TJ	1
Dumitrescu, AV; Zuazo, F	1
Drolsum, L; Estensen, ME; Fredwall, SO; Krohg-Sørensen, K; Kulseth, MA; Lindberg, BR; Lundby, R; Merckoll, E; Paus, B; Riise, N	1
Gueneuc, A; Michot, C; Millischer, AE; O'Gorman, N; Spaggiari, E; Ville, Y	1
Alkaabi, MK; Chan, TK; El-Hattab, AW; ElBarky, AM	1
Bamshad, MJ; Cohn, DH; Hanson-Kahn, A; Hudgins, L; Li, B; Nickerson, DA	1
Chen, L; Dong, Z; Lu, W; Ma, X; Ni, J; Shi, J; Wang, D; Wang, J; Wang, W; Xiao, Y; Yang, L; Zhang, C	1
Abbs, S; Alexander, P; Fuller, G; McNinch, A; Nixon, TRW; Richards, A; Sandford, RN; Snead, MP; Towns, LK	1
Bascom, R; Francomano, CA; McDonnell, N; Mills, S; Schubart, JR; Smith, T; Zukley, LM	1
Briosa, F; Oliveira, S; Oom, P; Sousa, R	1
Cadis, C; Juergens, A; Julakanti, M; Wang, A	1
Brejchova, K; Dudakova, L; Liskova, P; Malinka, F; Porter, LF; Skalicka, P	1
Alexander, P; Bearcroft, PWP; Cobben, J; McNinch, A; Nixon, TRW; Richards, A; Snead, MP	1
Anand, D; Buckley, M; Colley, A; Cowley, MJ; Dinger, M; Ewans, LJ; Forneris, F; Gaston-Massuet, C; Giunta, C; Gualtieri, A; Kirk, EP; Lachke, SA; McCabe, MJ; Miller, D; Roscioli, T; Scietti, L; Sillence, D; Walsh, C; Ying, K; Zhu, Y	1
Coussa, RG; Sears, J; Traboulsi, EI	1
Laurentino, TS; Marie, SKN; Oba-Shinjo, SM; Soares, RDS	1
Katsanis, N; Luo, X; Metlapally, R; Nading, E; Powell, C; Quiette, V; Soler, V; Tran-Viet, KN; Yanovitch, T; Young, TL	1
Lituania, M; Tonni, G	1
Aboura, A; Baumann, C; Benzacken, B; Boutaud, L; Capri, Y; Dupont, C; Guimiot, F; Le Du, N; Schaefer, E; Spaggiari, E; Tabet, AC	1
Al Kaissi, A; Chehida, FB; Ganger, R; Grill, F; Hofstaetter, JG; Kenis, V; Klaushofer, K; Zandieh, S	1
Claes, C; Collins, F; Flaherty, M; Pinner, J; Schrauwen, I; Sommen, M; Van Camp, G	1
Mochizuki, K; Sawada, A; Shiraki, I; Suemori, S	1
Cruciani, F; Gharbiya, M; Lardo, DA; Librando, A; Paoloni, M; Russo, V	1
Baron, D; Berrod, JP; Conart, JB	1
Athanasakis, E; Biskup, S; Bruno, I; D'Adamo, AP; Esposito, L; Faletra, F; Gasparini, P	1
Arangio, P; Calafati, V; Cascone, P; Papoff, P; Silvestri, A; Vellone, V	1
Carroll, C; Fincham, GS; McNinch, AM; Pasea, L; Poulson, AV; Richards, AJ; Scott, JD; Snead, MP	1
Dyleski, R; Grekov, K; Krishnan, M; Kwon, D	1
Acke, FR; Coucke, PJ; De Leeneer, K; De Leenheer, EM; De Paepe, A; Dhooge, I; Malfait, F; Mortier, G; Steyaert, W; Vanakker, OM	1
Eliott, D; Haddock, LJ; Yonekawa, Y	1
Al Hazzaa, SA; Alkuraya, FS; Alzahrani, F; Tayeb, H	1
Hattori, M; Iwasa, Y; Moteki, H; Nishio, SY; Sato, R; Takumi, Y; Usami, S	1
Foiadelli, T; Laino, D; Lobefalo, L; Marseglia, GL; Salpietro, V; Savasta, S; Spartà, MV; Verrotti, A	1
Elizalde, J; Mojal, S; Muiños, SJ; Nadal, J; Vilaplana, F	1
Fujii, M; Kinouchi, K; Nishio, J; Tachibana, K; Takeuchi, M	1
Basart, H; Breugem, CC; Cobben, JM; Don Griot, JP; Hennekam, RC; Lachmeijer, AM; Lichtenbelt, KD; Maas, SM; Paes, EC; van den Boogaard, MJ; van der Horst, CM; van Hagen, JM; van Nunen, DP	1
Das, S; Dhaon, P; Nolkha, N	1
Chen, KC; Engelbert, M; Jung, JJ	1
Cattalini, M; Cimaz, R; Khubchandani, R	1
Maheshwari, A; Rishi, E; Rishi, P	1
Alembik, Y; Alessandri, JL; Amiel, J; Audebert, S; Barat-Houari, M; Baujat, G; Baumann-Morel, C; Bieth, E; Blanchet, P; Brechard, M; Busa, T; Calvas, P; Capri, Y; Cartault, F; Chassaing, N; Ciorca, V; Cormier-Daire, V; Coubes, C; David, A; Delezoide, AL; Dumont, B; Dupin-Deguine, D; El Chehadeh, S; Fabre, A; Faivre, L; Geneviève, D; Giuliano, F; Goldenberg, A; Isidor, B; Jacquemont, ML; Julia, S; Kaplan, J; Lacombe, D; Le Merrer, M; Lebrun, M; Marlin, S; Martin-Coignard, D; Martinovic, J; Masurel, A; Melki, J; Mozelle-Nivoix, M; Nguyen, K; Odent, S; Philip, N; Pinson, L; Plessis, G; Quélin, C; Shaeffer, E; Sigaudy, S; Thauvin, C; Them, FT; Till, M; Touitou, I; Touraine, R; Vigneron, J	1
Jang, MA; Ki, CS; Kim, SJ; Yoon, JM	1
Acke, FR; De Leenheer, EM; Dhooge, IJ; Malfait, F; Swinnen, FK	1
Acke, FR; De Leenheer, EM; De Pauw, GA; Dhooge, IJ; Malfait, F	1
Drews-Botsch, CD; Lambert, SR; Morrison, D; Traboulsi, EI; Vanderveen, D	1
Guo, X; Jia, X; Li, J; Li, S; Li, Y; Liang, X; Wang, X; Wei, Y; Xiao, X	1
Berrocal, AM; McClellan, AJ; Mehta, NS; Read, SP; Yannuzzi, NA; Young, R	1
Audran, M; Bouvard, B; Insalaco, P; Legrand, E	1
Hayashi, T; Kimoto, K; Kondo, H; Kubota, T; Kusaka, S; Matsushita, I; Nagata, T; Ohji, M	1
Beemer, FA; Bendix, L; Björck, E; Bonduelle, M; Boute, O; Cormier-Daire, V; Coucke, PJ; De Buyzere, M; De Die-Smulders, C; De Paepe, A; Dewinter, C; Dieux-Coeslier, A; Dollfus, H; Elting, M; Green, A; Guerci, VI; Hennekam, RC; Hilhorts-Hofstee, Y; Holder, M; Hoornaert, KP; Hoyng, C; Jones, KJ; Josifova, D; Kaitila, I; Kjaergaard, S; Kroes, YH; Lagerstedt, K; Lees, M; Lemerrer, M; Leroy, BP; Leroy, JG; Magnani, C; Marcelis, C; Martorell, L; Mathieu, M; McEntagart, M; Mendicino, A; Mortier, GR; Morton, J; Orazio, G; Paquis, V; Reish, O; Rosenberg, T; Simola, KO; Smithson, SF; Temple, KI; Van Aken, E; Van Bever, Y; van den Ende, J; Van Hagen, JM; Vereecke, I; Zelante, L; Zordania, R	1
Couchouron, T; Masson, C	1
Acland, GM; Aguirre, GD; Goldstein, O; Guyon, R; Johnson, J; Kukekova, A; Kuznetsova, TN; Pearce-Kelling, SE	1
Birk, DE; Smith, SM	1
Ikeda, T; Osada, H; Sasaki, H; Yaguchi, H; Yonekura, H; Yoshitake, Y	1
Collin, RW; Cremers, FP; Keymolen, K; Nikopoulos, K; Schrauwen, I; Simon, M; Van Camp, G; van den Born, LI; Veckeneer, M	1
Carroll, C; Kaltenthaler, E; Papaioannou, D; Rees, A	1
Chen, TC; Girgis, N	1
Ala-Kokko, L; Baker, S; Blair, MP; Booth, C; Fillman, C; Hyland, JC; Shapiro, M	1
Berger, E; Gerth-Kahlert, C; Grisanti, S; Höhn, R; Jung, U; Witt, G	1
Bearcroft, P; Gomersall, P; McNinch, AM; Parfect, V; Poulson, AV; Richards, AJ; Silverman, B; Snead, MP	1
De Keyzer, TH; De Veuster, I; Smets, RM	1
Alonso, N; Antunes, RB; Paula, RG	1
Black, GC; Burt, BO; Buttery, RG; Edwards, TL; Kearns, LS; Mackey, DA; Perveen, R; Staffieri, SE; Toomes, C	1
Kuroda, M; Mitani, Y; Niida, Y; Okumura, A; Yokoi, A	1
Acke, FR; De Leenheer, EM; Dhooge, IJ; Malfait, F	1
Mandal, AK; Shenoy, BH	1
BELAU, PG; FARRELL, FJ; JONES, JD; PUGH, DG; STEINBERG, AG; STICKLER, GB; WARD, LE	1
Alvarez de Santos, M; Coronado-Monroy, A; García-Cervantes, ML; González-Quiroga, G; Medinilla-Vázquez, MG; Ramírez-del Río, JL	1
Abella, R; Blondeel, NJ; Del Greco, F; Roguska, J; Simon, NM; Walker, C	1
Macri, FJ	1

Reviews

23 review(s) available for trolamine salicylate and Retinal Pigment Epithelial Detachment

Article	Year
Dominant Stickler Syndrome. Genes, 2022, 06-18, Volume: 13, Issue:6 Topics: Arthritis; Connective Tissue Diseases; Craniofacial Abnormalities; Eye Diseases, Hereditary; Hearing Loss, Sensorineural; Humans; Osteochondrodysplasias; Pedigree; Retinal Detachment	2022
Autosomal Recessive Stickler Syndrome. Genes, 2022, 06-24, Volume: 13, Issue:7 Topics: Arthritis; Child; Connective Tissue Diseases; Eye Diseases, Hereditary; Hearing Loss, Sensorineural; Humans; Mutation; Myopia; Osteochondrodysplasias; Pedigree; Retinal Detachment	2022
Prevention of Blindness in Stickler Syndrome. Genes, 2022, 06-26, Volume: 13, Issue:7 Topics: Arthritis; Blindness; Child; Connective Tissue Diseases; Craniofacial Abnormalities; Eye Diseases, Hereditary; Hearing Loss, Sensorineural; Humans; Osteochondrodysplasias; Retinal Detachment	2022
Hearing Loss in Stickler Syndrome: An Update. Genes, 2022, 09-01, Volume: 13, Issue:9 Topics: Arthritis; Collagen Type IX; Connective Tissue Diseases; Craniofacial Abnormalities; Deafness; Eye Diseases, Hereditary; Hearing Loss; Hearing Loss, Sensorineural; Humans; Mutation; Osteochondrodysplasias; Pedigree; Retinal Detachment	2022
Chiari I Malformations and the Heritable Disorders of Connective Tissue. Neurosurgery clinics of North America, 2023, Volume: 34, Issue:1 Topics: Arthritis; Connective Tissue; Connective Tissue Diseases; Humans; Loeys-Dietz Syndrome; Retinal Detachment	2023
Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review. BMC medical genetics, 2020, 02-10, Volume: 21, Issue:1 Topics: Arthritis; Connective Tissue Diseases; DNA Mutational Analysis; Eye Diseases, Hereditary; Genetic Association Studies; Hearing Loss, Sensorineural; Humans; Mutation; Phenotype; Retinal Detachment	2020
Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review. Ophthalmic genetics, 2020, Volume: 41, Issue:3 Topics: Arthritis; Collagen Type II; Collagen Type XI; Connective Tissue Diseases; Cryotherapy; Hearing Loss, Sensorineural; Humans; Laser Therapy; Mutation; Retinal Detachment; Vitreous Detachment	2020
Endoplasmic Reticulum Stress and Unfolded Protein Response in Cartilage Pathophysiology; Contributing Factors to Apoptosis and Osteoarthritis. International journal of molecular sciences, 2017, Mar-20, Volume: 18, Issue:3 Topics: Age of Onset; Animals; Apoptosis; Arthritis; Bone Morphogenetic Proteins; Calcification, Physiologic; Cartilage; Chondrocytes; Chondrogenesis; Collagen; Connective Tissue Diseases; Endoplasmic Reticulum; Endoplasmic Reticulum Stress; Hearing Loss, Sensorineural; Humans; Molecular Targeted Therapy; Osteoarthritis; Osteoblasts; Retinal Detachment; Unfolded Protein Response	2017
A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature. Journal of medical case reports, 2017, Aug-26, Volume: 11, Issue:1 Topics: Arthritis; Cataract; Child; Child, Preschool; Cleft Palate; Collagen Type II; Collagen Type XI; Connective Tissue Diseases; Craniofacial Abnormalities; Diagnosis, Differential; Growth Disorders; Hearing Loss, Sensorineural; Humans; Male; Micrognathism; Mutation; Osteochondrodysplasias; Palate, Soft; Phenotype; Retinal Detachment	2017
Stickler syndrome in children: a radiological review. Clinical radiology, 2018, Volume: 73, Issue:7 Topics: Arthritis; Child; Cohort Studies; Connective Tissue Diseases; Hearing Loss, Sensorineural; Humans; Knee; Pelvis; Radiography; Retinal Detachment; Spine; United Kingdom	2018
Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation. American journal of medical genetics. Part A, 2018, Volume: 176, Issue:12 Topics: Arthritis; Child; Collagen Type IX; Connective Tissue Diseases; DNA Mutational Analysis; Exome Sequencing; Genes, Recessive; Hearing Loss, Sensorineural; Homozygote; Humans; Infant, Newborn; Mutation; Phenotype; Radiography; Retinal Detachment	2018
Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years. Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia, 2020, Volume: 164, Issue:2 Topics: Adult; Arthritis; Connective Tissue Diseases; Corneal Edema; Corneal Perforation; Diagnostic Errors; Eye Abnormalities; Glaucoma; Hearing Loss, Sensorineural; Heterozygote; Humans; Joint Instability; Keratoplasty, Penetrating; Male; Myopia; Reoperation; Retinal Detachment; Skin Abnormalities; Trabeculectomy; Transcription Factors; Vitrectomy	2020
Pathogenic variants in Journal of medical genetics, 2019, Volume: 56, Issue:9 Topics: Adolescent; Adult; Animals; Arthritis; Comparative Genomic Hybridization; Connective Tissue Diseases; Disease Models, Animal; Exome Sequencing; Facies; Female; Gene Expression; Genetic Association Studies; Genetic Predisposition to Disease; Genetic Variation; Hearing Loss, Sensorineural; Humans; Immunohistochemistry; Male; Mice; Models, Molecular; Mutation; Pedigree; Phenotype; Phylogeny; Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase; Protein Conformation; Retinal Detachment; Structure-Activity Relationship; Vascular Diseases; Young Adult	2019
Stickler syndrome: exploring prophylaxis for retinal detachment. Current opinion in ophthalmology, 2019, Volume: 30, Issue:5 Topics: Arthritis; Child; Connective Tissue Diseases; Female; Hearing Loss, Sensorineural; Humans; Male; Retinal Detachment	2019
LOXL3 Function Beyond Amino Oxidase and Role in Pathologies, Including Cancer. International journal of molecular sciences, 2019, Jul-23, Volume: 20, Issue:14 Topics: Amino Acid Oxidoreductases; Arthritis; Cleft Palate; Collagen; Connective Tissue Diseases; Elastin; Epithelial-Mesenchymal Transition; Extracellular Matrix; Gene Expression Regulation; Hearing Loss, Sensorineural; Humans; Isoenzymes; Myopia; Neoplasms; Organ Specificity; Retinal Detachment; Signal Transduction; Snail Family Transcription Factors; STAT3 Transcription Factor	2019
[Degenerative lesions of the peripheral retina]. Journal francais d'ophtalmologie, 2014, Volume: 37, Issue:1 Topics: Adolescent; Adult; Aged; Arthritis; Collagen Diseases; Connective Tissue Diseases; Eye Diseases, Hereditary; Hearing Loss, Sensorineural; Humans; Retina; Retinal Degeneration; Retinal Detachment; Retinal Perforations; Retinoschisis	2014
When flexibility is not necessarily a virtue: a review of hypermobility syndromes and chronic or recurrent musculoskeletal pain in children. Pediatric rheumatology online journal, 2015, Oct-06, Volume: 13, Issue:1 Topics: Arthritis; Child; Chronic Disease; Connective Tissue Diseases; Ehlers-Danlos Syndrome; Hearing Loss, Sensorineural; Humans; Joint Instability; Loeys-Dietz Syndrome; Marfan Syndrome; Musculoskeletal Pain; Recurrence; Retinal Detachment	2015
Early-onset progressive osteoarthritis with hereditary progressive ophtalmopathy or Stickler syndrome. Joint bone spine, 2011, Volume: 78, Issue:1 Topics: Age of Onset; Arthritis; Connective Tissue Diseases; Hearing Loss, Sensorineural; Humans; Incidence; Osteoarthritis; Pierre Robin Syndrome; Radiography; Retinal Detachment; Risk Factors	2011
The clinical effectiveness and safety of prophylactic retinal interventions to reduce the risk of retinal detachment and subsequent vision loss in adults and children with Stickler syndrome: a systematic review. Health technology assessment (Winchester, England), 2011, Volume: 15, Issue:16 Topics: Adult; Age Factors; Arthritis; Blindness; Child; Collagen Type XI; Connective Tissue Diseases; Cryotherapy; Hearing Loss, Sensorineural; Humans; Laser Therapy; Retinal Detachment; Risk Assessment; Risk Factors; Vitreous Detachment	2011
Genetics of the pediatric glaucomas. International ophthalmology clinics, 2011,Summer, Volume: 51, Issue:3 Topics: Aniridia; Anterior Eye Segment; Arthritis; Child; Collagen Type XI; Connective Tissue Diseases; Corneal Opacity; Eye Abnormalities; Eye Diseases, Hereditary; Glaucoma; Glaucoma, Open-Angle; Hearing Loss, Sensorineural; Humans; Nail-Patella Syndrome; Neurofibromatosis 1; Oculocerebrorenal Syndrome; Retinal Detachment; Sturge-Weber Syndrome; Turner Syndrome; Vitreous Detachment	2011
Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist. Eye (London, England), 2011, Volume: 25, Issue:11 Topics: Arthritis; Collagen Type II; Collagen Type XI; Connective Tissue Diseases; Diagnosis, Differential; Hearing Disorders; Hearing Loss, Sensorineural; Humans; Jaw Abnormalities; Phenotype; Retinal Detachment; Vitreous Body	2011
Hearing impairment in Stickler syndrome: a systematic review. Orphanet journal of rare diseases, 2012, Oct-30, Volume: 7 Topics: Animals; Arthritis; Collagen; Collagen Type XI; Connective Tissue Diseases; Genotype; Hearing Loss; Hearing Loss, Sensorineural; Humans; Retinal Detachment	2012
Pharmacology and toxicology of ophthalmic drugs. Archives of ophthalmology (Chicago, Ill. : 1960), 1968, Volume: 80, Issue:4 Topics: Adolescent; Adult; Aged; Amblyopia; Anaphylaxis; Animals; Anti-Inflammatory Agents; Arthritis; Cataract; Child; Child, Preschool; Ciliary Body; Cornea; Corneal Opacity; Drug-Related Side Effects and Adverse Reactions; Exophthalmos; Eye; Eye Diseases; Eye Injuries; Female; Glaucoma; Humans; Hyphema; Infant; Intraocular Pressure; Iris; Lacrimal Apparatus; Lens, Crystalline; Male; Middle Aged; Optic Neuritis; Pseudomonas; Retina; Retinal Detachment; Retinal Hemorrhage; Retinitis; Staphylococcus; Vision, Ocular	1968

Trials

1 trial(s) available for trolamine salicylate and Retinal Pigment Epithelial Detachment

Article	Year
Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations. Ophthalmic genetics, 2018, Volume: 39, Issue:5 Topics: Adolescent; Adult; Arthritis; Child; Child, Preschool; Collagen Type II; Connective Tissue Diseases; Eye Diseases, Hereditary; Female; Glaucoma; Hearing Loss, Sensorineural; Humans; Infant; Infant, Newborn; Male; Middle Aged; Mutation; Prognosis; Retinal Detachment; Retrospective Studies; Young Adult	2018

Article

Year

Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations.

Ophthalmic genetics, 2018, Volume: 39, Issue:5

Topics: Adolescent; Adult; Arthritis; Child; Child, Preschool; Collagen Type II; Connective Tissue Diseases; Eye Diseases, Hereditary; Female; Glaucoma; Hearing Loss, Sensorineural; Humans; Infant; Infant, Newborn; Male; Middle Aged; Mutation; Prognosis; Retinal Detachment; Retrospective Studies; Young Adult

2018

Other Studies

108 other study(ies) available for trolamine salicylate and Retinal Pigment Epithelial Detachment

Article	Year
Hypoplasic Vitreous in Stickler Syndrome. JAMA ophthalmology, 2021, 09-01, Volume: 139, Issue:9 Topics: Arthritis; Connective Tissue Diseases; Hearing Loss, Sensorineural; Humans; Mutation; Pedigree; Retinal Detachment	2021
THE PROPHYLAXIS OF FELLOW-EYE RETINAL DETACHMENT IN STICKLER SYNDROME: A RETROSPECTIVE SERIES. Retina (Philadelphia, Pa.), 2022, 02-01, Volume: 42, Issue:2 Topics: Arthritis; Child; Connective Tissue Diseases; Cryosurgery; Female; Follow-Up Studies; Hearing Loss, Sensorineural; Humans; Male; Refraction, Ocular; Retinal Detachment; Retrospective Studies; Scleral Buckling; Visual Acuity; Vitrectomy	2022
Stickler syndrome - lessons from a national cohort. Eye (London, England), 2022, Volume: 36, Issue:10 Topics: Adult; Arthritis; Child; Connective Tissue Diseases; Craniofacial Abnormalities; Eye Diseases, Hereditary; Hearing Loss, Sensorineural; Humans; Mutation; Pedigree; Retinal Detachment	2022
Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1. Genes, 2021, 10-05, Volume: 12, Issue:10 Topics: Adolescent; Adult; Arthritis; Asian People; Child; Child, Preschool; Collagen Type II; Collagen Type XI; Connective Tissue Diseases; Female; Genetic Association Studies; Genetic Predisposition to Disease; Hearing Loss, Sensorineural; Humans; Infant; Male; Middle Aged; Mutation; Myopia; Pedigree; Phenotype; Republic of Korea; Retinal Detachment; Young Adult	2021
Laser Prophylaxis in Patients with Stickler Syndrome. Ophthalmology. Retina, 2022, Volume: 6, Issue:4 Topics: Adolescent; Arthritis; Child; Connective Tissue Diseases; Eye Diseases, Hereditary; Female; Hearing Loss, Sensorineural; Humans; Lasers; Retinal Detachment; Retrospective Studies	2022
Risk and Prevention of Retinal Detachments in Patients with Stickler Syndrome. Ophthalmic surgery, lasers & imaging retina, 2022, Volume: 53, Issue:1 Topics: Arthritis; Connective Tissue Diseases; Eye Diseases, Hereditary; Female; Hearing Loss, Sensorineural; Humans; Retinal Detachment; Retinal Perforations; Retrospective Studies	2022
A Novel missense mutation of COL2A1 gene in a large family with stickler syndrome type I. Journal of cellular and molecular medicine, 2022, Volume: 26, Issue:5 Topics: Arthritis; Collagen Type II; Connective Tissue Diseases; DNA Mutational Analysis; Hearing Loss, Sensorineural; Humans; Male; Mutation; Mutation, Missense; Pedigree; Phenotype; Retinal Detachment	2022
Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome. Orphanet journal of rare diseases, 2022, 03-03, Volume: 17, Issue:1 Topics: Arthritis; Collagen Type IX; Connective Tissue Diseases; Genes, Recessive; Hearing Loss, Sensorineural; Humans; Mutation; Osteochondrodysplasias; Pedigree; Phenotype; Retinal Detachment	2022
Preventing Retinal Detachment in Patients with Stickler Syndrome: The Effects of Preemptive Laser Photocoagulation. Ophthalmology. Retina, 2022, Volume: 6, Issue:4 Topics: Arthritis; Connective Tissue Diseases; Eye Diseases, Hereditary; Hearing Loss, Sensorineural; Humans; Lasers; Light Coagulation; Retinal Detachment	2022
Severe foveal hypoplasia and macular degeneration in Stickler syndrome caused by missense mutation in Ophthalmic genetics, 2022, Volume: 43, Issue:4 Topics: Arthritis; Collagen Type II; Connective Tissue Diseases; Eye Diseases, Hereditary; Fluorescein Angiography; Fovea Centralis; Fundus Oculi; Hearing Loss, Sensorineural; Humans; Macular Degeneration; Mutation, Missense; Osteochondrodysplasias; Retinal Detachment; Tomography, Optical Coherence; Vision Disorders	2022
Genetic testing in four Indian families with suspected Stickler syndrome. Indian journal of ophthalmology, 2022, Volume: 70, Issue:7 Topics: Arthritis; Connective Tissue Diseases; Eye Diseases, Hereditary; Female; Genetic Testing; Hearing Loss, Sensorineural; Humans; Male; Osteochondrodysplasias; Pedigree; Retinal Degeneration; Retinal Detachment	2022
[Ultrasonographic manifestation and genetic analysis of a fetus with Stickler syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2022, Jul-10, Volume: 39, Issue:7 Topics: Arthritis; Connective Tissue Diseases; Eye Diseases, Hereditary; Female; Fetus; Hearing Loss, Sensorineural; Humans; Micrognathism; Mutation; Osteochondrodysplasias; Pedigree; Pregnancy; Retinal Detachment; Retrospective Studies	2022
Retinal Detachments in Stickler Syndrome. Ophthalmic surgery, lasers & imaging retina, 2022, Volume: 53, Issue:9 Topics: Arthritis; Connective Tissue Diseases; Eye Diseases, Hereditary; Hearing Loss, Sensorineural; Humans; Retinal Detachment	2022
Sudden Refusal to Walk in a Child with Stickler Syndrome. Pediatrics in review, 2022, 12-01, Volume: 43, Issue:12 Topics: Arthritis; Child; Connective Tissue Diseases; Hearing Loss, Sensorineural; Humans; Retinal Detachment	2022
Cambridge Prophylactic Protocol, Retinal Detachment, and Stickler Syndrome. The New England journal of medicine, 2023, Apr-06, Volume: 388, Issue:14 Topics: Arthritis; Clinical Protocols; Connective Tissue Diseases; Hearing Loss, Sensorineural; Humans; Ophthalmologic Surgical Procedures; Retinal Detachment	2023
Next-generation sequencing-aided precise diagnosis of Stickler syndrome type I. Acta ophthalmologica, 2020, Volume: 98, Issue:4 Topics: Adult; Arthritis; China; Collagen Type II; Connective Tissue Diseases; DNA; DNA Mutational Analysis; Female; Follow-Up Studies; Hearing Loss, Sensorineural; High-Throughput Nucleotide Sequencing; Humans; Incidence; Male; Mutation; Retinal Detachment; Retrospective Studies	2020
Electroretinograms of eyes with Stickler syndrome. Documenta ophthalmologica. Advances in ophthalmology, 2020, Volume: 140, Issue:3 Topics: Adolescent; Adult; Arthritis; Child; Child, Preschool; Collagen Type II; Color Vision; Connective Tissue Diseases; Electroretinography; Female; Hearing Loss, Sensorineural; Humans; Male; Middle Aged; Night Vision; Photic Stimulation; Retina; Retinal Detachment; Visual Acuity	2020
Stickler Syndrome: Airway Complications in a Case Series of 502 Patients. Anesthesia and analgesia, 2021, Volume: 132, Issue:1 Topics: Adolescent; Adult; Aged; Aged, 80 and over; Airway Management; Anesthesia, General; Arthritis; Child; Child, Preschool; Cleft Palate; Cohort Studies; Connective Tissue Diseases; Female; Hearing Loss, Sensorineural; Humans; Infant; Infant, Newborn; Intraoperative Complications; Male; Middle Aged; Pierre Robin Syndrome; Retinal Detachment; Retrospective Studies; Young Adult	2021
Orofacial Manifestations of Stickler Syndrome: An Analysis of Speech Outcome and Facial Growth After Cleft Palate Repair. Annals of plastic surgery, 2020, Volume: 84, Issue:6 Topics: Arthritis; Child; Cleft Palate; Connective Tissue Diseases; Hearing Loss, Sensorineural; Humans; Longitudinal Studies; Philadelphia; Retinal Detachment; Retrospective Studies; Speech; Treatment Outcome; Velopharyngeal Insufficiency	2020
Associated syndromes in patients with Pierre Robin Sequence. International journal of pediatric otorhinolaryngology, 2020, Volume: 131 Topics: 22q11 Deletion Syndrome; Adolescent; Arthritis; Arthrogryposis; Child; Child, Preschool; Chromosome Disorders; Cleft Palate; Clubfoot; Connective Tissue Diseases; De Lange Syndrome; Duane Retraction Syndrome; Female; Hand Deformities, Congenital; Hearing Loss, Sensorineural; Heart Defects, Congenital; Humans; Hypoventilation; Infant; Infant, Newborn; Intellectual Disability; Male; Mandibulofacial Dysostosis; Mobius Syndrome; Muscle Hypotonia; Pierre Robin Syndrome; Retinal Detachment; Retrospective Studies; Sleep Apnea, Central	2020
Analysis of Etiologic Factors in Pediatric Rhegmatogenous Retinal Detachment With Genetic Testing. American journal of ophthalmology, 2020, Volume: 218 Topics: Adolescent; Arthritis; Child; Child, Preschool; Congenital Abnormalities; Connective Tissue Diseases; Cross-Sectional Studies; Developmental Disabilities; Exome Sequencing; Familial Exudative Vitreoretinopathies; Female; Genetic Testing; Hearing Loss, Sensorineural; Humans; Infant; Male; Marfan Syndrome; Myopia; Retinal Detachment; Risk Factors	2020
A novel deep intronic COL2A1 mutation in a family with early-onset high myopia/ocular-only Stickler syndrome. Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists), 2020, Volume: 40, Issue:3 Topics: Adolescent; Adult; Aged; Arthritis; Child; Collagen Type II; Connective Tissue Diseases; DNA; DNA Mutational Analysis; Female; Hearing Loss, Sensorineural; Humans; Male; Middle Aged; Mutation; Myopia; Pedigree; Retinal Detachment; Time Factors; Young Adult	2020
Stickler Syndrome Genotype (COL2A1 mutation) with Retinitis Pigmentosa Phenotype. Ophthalmology. Retina, 2020, Volume: 4, Issue:5 Topics: Arthritis; Collagen Type II; Connective Tissue Diseases; DNA; DNA Mutational Analysis; Genotype; Hearing Loss, Sensorineural; Humans; Male; Middle Aged; Mutation; Phenotype; Retinal Detachment; Retinitis Pigmentosa	2020
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes. Annals of human genetics, 2020, Volume: 84, Issue:5 Topics: Adolescent; Adult; Arthritis; Child; Child, Preschool; Collagen Type II; Collagen Type XI; Connective Tissue Diseases; Czech Republic; DNA Mutational Analysis; Female; Hearing Loss, Sensorineural; Humans; Infant; Male; Middle Aged; Pedigree; Phenotype; Retinal Detachment; Young Adult	2020
Pregnancy management in a patient with stickler syndrome. Molecular genetics & genomic medicine, 2020, Volume: 8, Issue:8 Topics: Adult; Arthritis; Collagen Type II; Connective Tissue Diseases; Disease Management; Early Diagnosis; Female; Genes, Dominant; Genetic Testing; Hearing Loss, Sensorineural; Heterozygote; Humans; Live Birth; Pregnancy; Pregnancy Complications; Retinal Detachment	2020
Surgical management in a severe OSA patient diagnosed with Stickler syndrome. Auris, nasus, larynx, 2021, Volume: 48, Issue:5 Topics: Adult; Arthritis; Cleft Palate; Connective Tissue Diseases; Continuous Positive Airway Pressure; Hearing Loss, Sensorineural; Humans; Male; Retinal Detachment; Severity of Illness Index; Sleep Apnea, Obstructive; Velopharyngeal Insufficiency	2021
Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation. Molecular genetics & genomic medicine, 2020, Volume: 8, Issue:9 Topics: Arthritis; Child; Collagen Type XI; Connective Tissue Diseases; Hearing Loss, Sensorineural; Heterozygote; Humans; Male; Mutation; Phenotype; Retinal Detachment; RNA Splicing	2020
Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss. Molecular genetics & genomic medicine, 2020, Volume: 8, Issue:9 Topics: Adolescent; Arthritis; Collagen Type XI; Connective Tissue Diseases; Female; Gene Deletion; Genes, Dominant; Hearing Loss, Sensorineural; Humans; Phenotype; Retinal Detachment; RNA Splicing	2020
Case Series of Stickler Syndrome Presenting With Acute Angle Closure. Journal of glaucoma, 2020, Volume: 29, Issue:10 Topics: Adult; Arthritis; Connective Tissue Diseases; Female; Glaucoma Drainage Implants; Glaucoma, Angle-Closure; Gonioscopy; Hearing Loss, Sensorineural; Humans; Intraocular Pressure; Male; Retinal Detachment; Tonometry, Ocular	2020
ULTRA-WIDE FIELD FUNDUS AUTOFLUORESCENCE IMAGING OF EYES WITH STICKLER SYNDROME. Retina (Philadelphia, Pa.), 2021, Mar-01, Volume: 41, Issue:3 Topics: Adolescent; Adult; Arthritis; Child; Child, Preschool; Connective Tissue Diseases; Female; Fluorescein Angiography; Follow-Up Studies; Fundus Oculi; Hearing Loss, Sensorineural; Humans; Male; Middle Aged; Optical Imaging; Retinal Detachment; Retrospective Studies; Tomography, Optical Coherence; Visual Acuity; Visual Fields; Young Adult	2021
Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment. Genes, 2020, 08-03, Volume: 11, Issue:8 Topics: Adult; Arthritis; Child; Collagen Type II; Collagen Type XI; Connective Tissue Diseases; Female; Hearing Loss, Sensorineural; Humans; Male; Mutation; Myopia; Pedigree; Retinal Detachment	2020
Distinguishing Marshall from Stickler syndrome: a clinical and genetic challenge. Clinical dysmorphology, 2021, Volume: 30, Issue:1 Topics: Alleles; Arthritis; Cataract; Collagen Type XI; Connective Tissue Diseases; Craniofacial Abnormalities; Diagnosis, Differential; Genetic Association Studies; Genetic Predisposition to Disease; Genetic Variation; Genotype; Hearing Loss, Sensorineural; Humans; Infant; Male; Osteochondrodysplasias; Phenotype; Retinal Detachment	2021
Auditory dysfunction in type 2 Stickler Syndrome. European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery, 2021, Volume: 278, Issue:7 Topics: Animals; Arthritis; Collagen Type XI; Connective Tissue Diseases; Female; Hearing Loss, Sensorineural; Mice; Mutation; Retinal Detachment	2021
Long-Term Follow-Up of Retinal Detachment Repair in Patients With Stickler Syndrome. Ophthalmic surgery, lasers & imaging retina, 2020, 11-01, Volume: 51, Issue:11 Topics: Arthritis; Connective Tissue Diseases; Follow-Up Studies; Hearing Loss, Sensorineural; Humans; Retinal Detachment; Retrospective Studies; Silicone Oils; Treatment Outcome; Vitrectomy	2020
Basedow-Graves' disease in a pediatric patient with Sticlker syndrome, a new endocrine finding to improve personalized treatment. Italian journal of pediatrics, 2020, Dec-01, Volume: 46, Issue:1 Topics: Antithyroid Agents; Arthritis; Child, Preschool; Connective Tissue Diseases; Female; Graves Disease; Hearing Loss, Sensorineural; Humans; Methimazole; Precision Medicine; Retinal Detachment	2020
Surgical Management of Velopharyngeal Insufficiency Due to Unilateral Oropharyngeal Agenesis in a Patient With Stickler Syndrome. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association, 2021, Volume: 58, Issue:9 Topics: Arthritis; Child, Preschool; Cleft Palate; Connective Tissue Diseases; Hearing Loss, Sensorineural; Humans; Palate, Soft; Pharynx; Retinal Detachment; Surgical Flaps; Treatment Outcome; Velopharyngeal Insufficiency	2021
Autosomal recessive Stickler syndrome associated with homozygous mutations in the Ophthalmic genetics, 2021, Volume: 42, Issue:2 Topics: Adolescent; Adult; Arthritis; Case-Control Studies; Child; Collagen Type IX; Connective Tissue Diseases; Female; Genes, Recessive; Hearing Loss, Sensorineural; Homozygote; Humans; Male; Mutation; Phenotype; Retinal Detachment; Young Adult	2021
Progressive Visual Loss Without Retinal Detachment in Stickler Syndrome: An Uncommon and Novel Presentation. Turkish journal of ophthalmology, 2020, 12-29, Volume: 50, Issue:6 Topics: Arthritis; Child; Connective Tissue Diseases; Fluorescein Angiography; Fundus Oculi; Hearing Loss, Sensorineural; Humans; Male; Retina; Retinal Detachment; Tomography, Optical Coherence; Vision, Low; Visual Acuity	2020
Choroidal and peripapillary changes in high myopic eyes with Stickler syndrome. BMC ophthalmology, 2021, Jan-04, Volume: 21, Issue:1 Topics: Arthritis; Choroid; Connective Tissue Diseases; Hearing Loss, Sensorineural; Humans; Retinal Detachment; Tomography, Optical Coherence	2021
Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene. Molecular genetics & genomic medicine, 2021, Volume: 9, Issue:3 Topics: Arthritis; Child, Preschool; Collagen Type IX; Connective Tissue Diseases; Genes, Recessive; Hearing Loss, Sensorineural; Heterozygote; Humans; Male; Mutation; Phenotype; Retinal Detachment	2021
Generation and characterization of human induced pluripotent stem cells line JLUEYEi001-A from a 45 year old female with Stickler syndrome. Stem cell research, 2021, Volume: 53 Topics: Arthritis; Cell Differentiation; Cell Line; Cellular Reprogramming; Connective Tissue Diseases; Female; Hearing Loss, Sensorineural; Humans; Induced Pluripotent Stem Cells; Middle Aged; Retinal Detachment	2021
A novel de novo mutation in COL2A1 gene associated with fetal skeletal dysplasia. Taiwanese journal of obstetrics & gynecology, 2021, Volume: 60, Issue:2 Topics: Adult; Arthritis; Collagen Type II; Connective Tissue Diseases; Female; Hearing Loss, Sensorineural; Humans; Mutation; Pregnancy; Retinal Detachment; Syndrome	2021
Challenging Diagnosis of Stickler Syndrome in a Patient with Premature Osteoarthritis: A Case Report. JBJS case connector, 2021, 03-23, Volume: 11, Issue:1 Topics: Arthritis; Connective Tissue Diseases; Hearing Loss, Sensorineural; Humans; Male; Middle Aged; Osteoarthritis; Retinal Detachment	2021
Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination. Molecular genetics & genomic medicine, 2021, Volume: 9, Issue:5 Topics: Arthritis; Child; Child, Preschool; Collagen Type II; Collagen Type IX; Collagen Type XI; Connective Tissue Diseases; Eye; Female; Genetic Testing; Hearing Loss, Sensorineural; Heterozygote; Humans; LDL-Receptor Related Protein-Associated Protein; Male; Mutation; Phenotype; Retinal Detachment	2021
Incidence of mandibular distraction osteogenesis in Stickler Syndrome: Variation due to COL2A1 and COL11A1. International journal of pediatric otorhinolaryngology, 2021, Volume: 146 Topics: Airway Obstruction; Arthritis; Child; Collagen Type II; Collagen Type XI; Connective Tissue Diseases; Hearing Loss, Sensorineural; Humans; Incidence; Infant; Infant, Newborn; Mandible; Osteogenesis, Distraction; Pierre Robin Syndrome; Retinal Detachment; Retrospective Studies; Treatment Outcome	2021
Hearing Outcomes in Stickler Syndrome: Variation Due to The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association, 2022, Volume: 59, Issue:8 Topics: Arthritis; Child; Collagen Type II; Collagen Type XI; Connective Tissue Diseases; Craniofacial Abnormalities; Eye Diseases, Hereditary; Hearing; Hearing Loss; Hearing Loss, Sensorineural; Humans; Mutation; Osteochondrodysplasias; Retinal Detachment; Retrospective Studies	2022
Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence. American journal of medical genetics. Part A, 2021, Volume: 185, Issue:12 Topics: Arthritis; Child; Child, Preschool; Cleft Lip; Cleft Palate; Connective Tissue Diseases; Female; Hearing Loss, Sensorineural; Humans; Infant; Male; Pierre Robin Syndrome; Retinal Detachment; Retrospective Studies	2021
Pleiotropy of a Stickler syndrome genotype. European journal of ophthalmology, 2022, Volume: 32, Issue:6 Topics: Arthritis; Connective Tissue Diseases; Eye Diseases, Hereditary; Genotype; Hearing Loss, Sensorineural; Humans; Mutation; Pedigree; Phenotype; Retinal Detachment	2022
Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family. Molecular genetics & genomic medicine, 2021, Volume: 9, Issue:10 Topics: Adolescent; Arthritis; Collagen Type II; Connective Tissue Diseases; DNA Mutational Analysis; Exome Sequencing; Family; Female; Genetic Association Studies; Genetic Predisposition to Disease; Hearing Loss, Sensorineural; Humans; Male; Mongolia; Mutation; Pedigree; Phenotype; Retinal Detachment	2021
Genetic variant of Stickler's syndrome. Archivos de la Sociedad Espanola de Oftalmologia, 2018, Volume: 93, Issue:3 Topics: Adolescent; Adult; Arthritis; Connective Tissue Diseases; Female; Genetic Variation; Hearing Loss, Sensorineural; Humans; Male; Pedigree; Phenotype; Retinal Detachment	2018
[Association of macular coloboma and Pierre Robin sequence; could it be Stickler syndrome?] Journal francais d'ophtalmologie, 2018, Volume: 41, Issue:3 Topics: Arthritis; Child, Preschool; Coloboma; Connective Tissue Diseases; Diagnosis, Differential; Hearing Loss, Sensorineural; Humans; Macula Lutea; Male; Pierre Robin Syndrome; Retinal Detachment; Ultrasonography	2018
Targeted next‑generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment. International journal of molecular medicine, 2018, Volume: 42, Issue:4 Topics: Adult; Arthritis; Collagen Type II; Connective Tissue Diseases; Family; Female; Hearing Loss, Sensorineural; High-Throughput Nucleotide Sequencing; Humans; Male; Mutation; Polymorphism, Genetic; Retinal Detachment	2018
The uncommon occurrence of two common inherited disorders in a single patient: a mini case series. Ophthalmic genetics, 2018, Volume: 39, Issue:5 Topics: Adolescent; Aged; Arthritis; ATP-Binding Cassette Transporters; Collagen Type XI; Connective Tissue Diseases; Eye Diseases, Hereditary; Female; Hearing Loss, Sensorineural; Humans; Macular Degeneration; Male; Mutation; Prognosis; Retinal Detachment; Stargardt Disease	2018
Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report. BMC medical genetics, 2018, 08-31, Volume: 19, Issue:1 Topics: Adult; Arthritis; Connective Tissue Diseases; Hearing Loss, Sensorineural; Humans; Loeys-Dietz Syndrome; Male; Mutation; Osteochondrodysplasias; Retinal Detachment; Young Adult	2018
Contribution of three-dimensional ultrasound and three-dimensional helical computed tomography to prenatal diagnosis of Stickler syndrome. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2019, Volume: 54, Issue:2 Topics: Adult; Arthritis; Cesarean Section; Collagen Type II; Connective Tissue Diseases; Female; Femur; Hearing Loss, Sensorineural; Humans; Imaging, Three-Dimensional; Infant, Newborn; Male; Micrognathism; Pierre Robin Syndrome; Pregnancy; Prenatal Diagnosis; Retinal Detachment; Tomography, Spiral Computed; Ultrasonography	2019
LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome. Clinical genetics, 2019, Volume: 95, Issue:2 Topics: Adult; Alleles; Amino Acid Oxidoreductases; Amino Acid Substitution; Arthritis; Child; Connective Tissue Diseases; Female; Genes, Recessive; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Hearing Loss, Sensorineural; Humans; Male; Mutation; Pedigree; Phenotype; Retinal Detachment	2019
Pathogenic gene screening in 91 Chinese patients with short stature of unknown etiology with a targeted next-generation sequencing panel. BMC medical genetics, 2018, 12-12, Volume: 19, Issue:1 Topics: Adolescent; Aggrecans; Arthritis; Asian People; Cartilage Oligomeric Matrix Protein; Child; Child, Preschool; Collagen Type II; Connective Tissue Diseases; Dwarfism; Female; Gene Expression; Genetic Testing; Hearing Loss, Sensorineural; High-Throughput Nucleotide Sequencing; Homeodomain Proteins; Humans; Male; Mutation; Noonan Syndrome; Osteochondrodysplasias; Protein Tyrosine Phosphatase, Non-Receptor Type 11; Retinal Detachment; SOS1 Protein; Transcription Factors	2018
Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia. European journal of human genetics : EJHG, 2019, Volume: 27, Issue:3 Topics: Adult; Arthritis; Bone Morphogenetic Protein 4; Cells, Cultured; Connective Tissue Diseases; Female; Hearing Loss, Sensorineural; Humans; Kidney; Loss of Function Mutation; Male; Pedigree; Phenotype; Retinal Detachment	2019
Heritable disorders of connective tissue: Description of a data repository and initial cohort characterization. American journal of medical genetics. Part A, 2019, Volume: 179, Issue:4 Topics: Adolescent; Adult; Aged; Aged, 80 and over; Arthritis; Child; Child, Preschool; Cohort Studies; Connective Tissue Diseases; Cross-Sectional Studies; Ehlers-Danlos Syndrome; Female; Hearing Loss, Sensorineural; Humans; Male; Marfan Syndrome; Middle Aged; National Institutes of Health (U.S.); Phenotype; Registries; Retinal Detachment; Skin Abnormalities; United States; Young Adult	2019
Stickler syndrome: a possible presentation of Pierre Robin sequence. BMJ case reports, 2019, Jan-31, Volume: 12, Issue:1 Topics: Arthritis; Connective Tissue Diseases; Female; Hearing Loss, Sensorineural; Humans; Imaging, Three-Dimensional; Infant, Newborn; Infant, Premature; Pierre Robin Syndrome; Retinal Detachment; Skull; Tomography, X-Ray Computed	2019
Bilateral Retinal Detachment in a Pediatric Patient. The Journal of emergency medicine, 2019, Volume: 56, Issue:4 Topics: Arthritis; Child; Connective Tissue Diseases; Emergency Service, Hospital; Hearing Loss, Sensorineural; Humans; Magnetic Resonance Imaging; Male; Pediatrics; Retinal Detachment; Vision Disorders	2019
Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype. American journal of medical genetics. Part A, 2019, Volume: 179, Issue:8 Topics: Adolescent; Adult; Arthritis; Child; Child, Preschool; Collagen Type IX; Connective Tissue Diseases; Female; Gene Expression; Genes, Recessive; Hearing Loss, Sensorineural; Heterozygote; High-Throughput Nucleotide Sequencing; Homozygote; Humans; Male; Mutation; Pedigree; Phenotype; Retinal Detachment; Risk Factors; Severity of Illness Index	2019
Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes. Molecular vision, 2013, Volume: 19 Topics: Adolescent; Adult; Aged; Arthritis; Base Sequence; Collagen Type II; Connective Tissue Diseases; DNA Mutational Analysis; DNA, Complementary; Family; Female; Gene Expression Regulation; Hearing Loss, Sensorineural; Humans; Male; Molecular Sequence Data; Mutation; Pedigree; Phenotype; Protein Isoforms; Retinal Degeneration; Retinal Detachment; Versicans	2013
Bifid uvula and familial Stickler syndrome diagnosed prenatally before the sonographic "equals sign" landmark. Archives of gynecology and obstetrics, 2013, Volume: 288, Issue:3 Topics: Adult; Arthritis; Collagen Diseases; Connective Tissue Diseases; Female; Fetal Diseases; Hearing Loss, Sensorineural; Humans; Pregnancy; Retinal Detachment; Ultrasonography, Prenatal; Uvula	2013
COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome. American journal of medical genetics. Part A, 2013, Volume: 161A, Issue:10 Topics: Adult; Arthritis; Child; Chromosome Banding; Chromosomes, Human, Pair 12; Chromosomes, Human, Pair 15; Collagen Type II; Comparative Genomic Hybridization; Connective Tissue Diseases; Female; Hearing Loss, Sensorineural; Humans; In Situ Hybridization, Fluorescence; Infant, Newborn; Male; Pregnancy; Retinal Detachment; Translocation, Genetic	2013
Radiographic and tomographic analysis in patients with stickler syndrome type I. International journal of medical sciences, 2013, Volume: 10, Issue:9 Topics: Adolescent; Adult; Arthritis; Child; Child, Preschool; Collagen Type II; Connective Tissue Diseases; Female; Hearing Loss, Sensorineural; Humans; Infant; Male; Mutation; Radiography; Retinal Detachment; Young Adult	2013
Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome. Clinical genetics, 2014, Volume: 86, Issue:3 Topics: Agenesis of Corpus Callosum; Arthritis; Base Sequence; Collagen Diseases; Connective Tissue Diseases; Eye; Hearing Loss, Sensorineural; Hernias, Diaphragmatic, Congenital; Humans; Low Density Lipoprotein Receptor-Related Protein-2; Magnetic Resonance Imaging; Molecular Sequence Data; Mutation, Missense; Myopia; Pedigree; Phenotype; Proteinuria; Renal Tubular Transport, Inborn Errors; Retinal Detachment; Sequence Analysis, DNA	2014
Stickler syndrome type 1 accompanied by membranous vitreous anomaly in two Japanese sisters. Seminars in ophthalmology, 2014, Volume: 29, Issue:1 Topics: Adult; Arthritis; Asian People; Child; Collagen Type II; Connective Tissue Diseases; DNA Mutational Analysis; Eye Diseases; Female; Hearing Loss, Sensorineural; Humans; Mutation; Polymerase Chain Reaction; Retinal Detachment; Scleral Buckling; Siblings; Vitrectomy; Vitreous Body	2014
[Stabilometric analysis in patients affected by maculopathy]. La Clinica terapeutica, 2013, Volume: 164, Issue:5 Topics: Adolescent; Adult; Arthritis; Collagen Diseases; Connective Tissue Diseases; Diabetic Retinopathy; Electromyography; Female; Gait; Hearing Loss, Sensorineural; Humans; Macular Degeneration; Male; Middle Aged; Mobility Limitation; Muscle Strength Dynamometer; Posture; Retinal Detachment; Stargardt Disease; Toxoplasmosis, Ocular; Vision, Low; Visual Fields; Young Adult	2013
Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene. American journal of medical genetics. Part A, 2014, Volume: 164A, Issue:1 Topics: Adolescent; Arthritis; Bone and Bones; Child; Child, Preschool; Collagen Diseases; Collagen Type IX; Connective Tissue Diseases; DNA Mutational Analysis; Facies; Female; Genes, Recessive; Hearing Loss; Hearing Loss, Sensorineural; Homozygote; Humans; Male; Mutation; Pedigree; Radiography; Retinal Detachment	2014
Fast and early mandibular osteodistraction (FEMOD) in severe Pierre Robin Sequence. Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery, 2014, Volume: 42, Issue:7 Topics: Airway Obstruction; Arthritis; Cleft Palate; Connective Tissue Diseases; External Fixators; Female; Glossoptosis; Hearing Loss, Sensorineural; Humans; Infant, Newborn; Male; Mandible; Mandibular Osteotomy; Micrognathism; Osteogenesis, Distraction; Patient Care Team; Pierre Robin Syndrome; Piezosurgery; Retinal Detachment	2014
Prevention of retinal detachment in Stickler syndrome: the Cambridge prophylactic cryotherapy protocol. Ophthalmology, 2014, Volume: 121, Issue:8 Topics: Adolescent; Adult; Arthritis; Clinical Protocols; Collagen Type II; Connective Tissue Diseases; Cryotherapy; DNA Mutational Analysis; Female; Hearing Loss, Sensorineural; Humans; Male; Pedigree; Retinal Detachment; Retrospective Studies; Risk Factors; Time Factors; Young Adult	2014
Characteristics of pilomatrixoma in children: a review of 137 patients. International journal of pediatric otorhinolaryngology, 2014, Volume: 78, Issue:8 Topics: Adolescent; Arthritis; Child; Child, Preschool; Collagen Diseases; Connective Tissue Diseases; Female; Hair Diseases; Head and Neck Neoplasms; Hearing Loss, Sensorineural; Humans; Infant; Male; Pilomatrixoma; Retinal Detachment; Retrospective Studies; Sex Distribution; Skin Neoplasms; Turner Syndrome; Young Adult	2014
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing. Molecular genetics and metabolism, 2014, Volume: 113, Issue:3 Topics: Arthritis; Collagen Diseases; Collagen Type XI; Connective Tissue Diseases; DNA Mutational Analysis; Exome; Genetic Association Studies; Hearing Loss, Sensorineural; High-Throughput Nucleotide Sequencing; Humans; Pedigree; Retinal Detachment	2014
A 360° giant retinal tear in Stickler syndrome. JAMA ophthalmology, 2015, Volume: 133, Issue:1 Topics: Adolescent; Arthritis; Collagen Diseases; Connective Tissue Diseases; Endotamponade; Hearing Loss, Sensorineural; Humans; Male; Retinal Detachment; Retinal Perforations; Vitrectomy	2015
LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome. Human genetics, 2015, Volume: 134, Issue:4 Topics: Adolescent; Amino Acid Oxidoreductases; Amino Acid Sequence; Arthritis; Base Sequence; Child; Collagen Diseases; Connective Tissue Diseases; Consanguinity; Family; Female; Genes, Recessive; Hearing Loss, Sensorineural; Humans; Male; Molecular Sequence Data; Mutation, Missense; Pedigree; Retinal Detachment	2015
Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients. The Annals of otology, rhinology, and laryngology, 2015, Volume: 124 Suppl 1 Topics: Arthritis; Child; Collagen Diseases; Collagen Type XI; Connective Tissue Diseases; Female; Frameshift Mutation; Hearing Loss; Hearing Loss, Sensorineural; High-Throughput Nucleotide Sequencing; Humans; Mutation, Missense; Pedigree; Phenotype; Retinal Detachment	2015
Stickler syndrome associated with epilepsy: report of three cases. European journal of pediatrics, 2015, Volume: 174, Issue:5 Topics: Arthritis; Collagen Type II; Connective Tissue Diseases; Epilepsy; Female; Hearing Loss, Sensorineural; Humans; Infant, Newborn; Male; Retinal Detachment; Seizures	2015
Stickler syndrome. Epidemiology of retinal detachment. Archivos de la Sociedad Espanola de Oftalmologia, 2015, Volume: 90, Issue:6 Topics: Adolescent; Adult; Arthritis; Child; Child, Preschool; Connective Tissue Diseases; Female; Follow-Up Studies; Hearing Loss, Sensorineural; Humans; Male; Ophthalmologic Surgical Procedures; Retinal Detachment; Retrospective Studies; Treatment Outcome; Young Adult	2015
Perioperative management of 19 infants undergoing glossopexy (tongue-lip adhesion) procedure: a retrospective study. Paediatric anaesthesia, 2015, Volume: 25, Issue:8 Topics: Airway Management; Arthritis; Connective Tissue Diseases; Craniofacial Abnormalities; Female; Fiber Optic Technology; Hearing Loss, Sensorineural; Humans; Infant; Infant, Newborn; Intubation, Intratracheal; Lip; Male; Mandibulofacial Dysostosis; Perioperative Care; Pierre Robin Syndrome; Retinal Detachment; Retrospective Studies; Tongue; Tracheostomy	2015
Etiology and pathogenesis of robin sequence in a large Dutch cohort. American journal of medical genetics. Part A, 2015, Volume: 167A, Issue:9 Topics: Airway Obstruction; Arthritis; Cleft Palate; Connective Tissue Diseases; Female; Hearing Loss, Sensorineural; Humans; Male; Micrognathism; Pierre Robin Syndrome; Retinal Detachment	2015
Arthritis in Stickler syndrome: Inflammatory or degenerative? International journal of rheumatic diseases, 2017, Volume: 20, Issue:11 Topics: Adolescent; Antirheumatic Agents; Arthritis; Arthritis, Juvenile; Connective Tissue Diseases; Female; Hearing Loss, Sensorineural; Humans; Retinal Detachment; Synovitis; Treatment Outcome; Young Adult	2017
Giant premacular bursa: a novel finding of the posterior vitreous in two patients with Stickler syndrome type 1 revealed by swept-source optical coherence tomography. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 2016, Volume: 254, Issue:3 Topics: Adult; Arthritis; Child; Collagen Type II; Connective Tissue Diseases; Extracellular Space; Eye Diseases; Hearing Loss, Sensorineural; Humans; Male; Retinal Detachment; Scleral Buckling; Tomography, Optical Coherence; Vitreous Body	2016
Stickler syndrome. Indian journal of ophthalmology, 2015, Volume: 63, Issue:7 Topics: Adolescent; Arthritis; Connective Tissue Diseases; Diagnosis, Differential; Electroretinography; Fundus Oculi; Hearing Loss, Sensorineural; Humans; Male; Retina; Retinal Detachment	2015
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype. European journal of human genetics : EJHG, 2016, Volume: 24, Issue:7 Topics: Amino Acid Substitution; Arthritis; Collagen Diseases; Collagen Type II; Connective Tissue Diseases; Female; Hearing Loss, Sensorineural; Humans; Male; Osteochondrodysplasias; Pedigree; Phenotype; Protein Domains; Retinal Detachment	2016
Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea. Annals of laboratory medicine, 2016, Volume: 36, Issue:2 Topics: Adult; Arthritis; Asian People; Base Sequence; Collagen Type II; Connective Tissue Diseases; DNA Mutational Analysis; Exons; Female; Hearing Loss, Sensorineural; Humans; Male; Middle Aged; Republic of Korea; Retinal Detachment; Visual Acuity	2016
Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients. European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery, 2016, Volume: 273, Issue:10 Topics: Adolescent; Adult; Arthritis; Audiometry, Pure-Tone; Auditory Threshold; Child; Connective Tissue Diseases; Cross-Sectional Studies; Disease Progression; Female; Hearing Loss, Sensorineural; Humans; Male; Middle Aged; Otoacoustic Emissions, Spontaneous; Phenotype; Retinal Detachment; Young Adult	2016
Cephalometrics in Stickler syndrome: Objectification of the typical facial appearance. Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery, 2016, Volume: 44, Issue:7 Topics: Adolescent; Adult; Arthritis; Cephalometry; Child; Cleft Palate; Collagen Type XI; Connective Tissue Diseases; Facies; Female; Hearing Loss, Sensorineural; Humans; Male; Mandible; Middle Aged; Mutation; Retinal Detachment; Vitreous Detachment; Young Adult	2016
Associated systemic and ocular disorders in patients with congenital unilateral cataracts: the Infant Aphakia Treatment Study experience. Eye (London, England), 2016, Volume: 30, Issue:9 Topics: Aphakia, Postcataract; Arthritis; Autistic Disorder; Cataract; Cataract Extraction; Child, Preschool; Connective Tissue Diseases; Eye Diseases; Follow-Up Studies; Hearing Loss, Sensorineural; Humans; Infant; Lens Implantation, Intraocular; Mitochondrial Diseases; Prospective Studies; Retinal Detachment; Rubella Syndrome, Congenital; Vitrectomy	2016
Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome. Molecular vision, 2016, Volume: 22 Topics: Adolescent; Adult; Arthritis; Asian People; Child; Child, Preschool; China; Collagen Type II; Collagen Type XI; Connective Tissue Diseases; DNA Mutational Analysis; Female; Genetic Association Studies; Hearing Loss, Sensorineural; Humans; Male; Middle Aged; Multiplex Polymerase Chain Reaction; Mutation; Myopia; Pedigree; Retinal Detachment	2016
Retinal Detachment in a Combined Case of Stickler Syndrome and X-Linked Retinoschisis. Ophthalmic surgery, lasers & imaging retina, 2017, 01-01, Volume: 48, Issue:1 Topics: Arthritis; Child; Connective Tissue Diseases; Diagnosis, Differential; Fluorescein Angiography; Fundus Oculi; Hearing Loss, Sensorineural; Humans; Male; Retina; Retinal Detachment; Retinal Perforations; Retinoschisis; Tomography, Optical Coherence	2017
Osteoporosis in Stickler syndrome. A new family case with bone histology study. Morphologie : bulletin de l'Association des anatomistes, 2017, Volume: 101, Issue:332 Topics: Adult; Arthritis; Back Pain; Bone and Bones; Child; Collagen Type II; Collagen Type XI; Connective Tissue Diseases; Densitometry; Hearing Loss, Sensorineural; Humans; Male; Mutation; Myopia; Osteoporosis; Phenotype; Radiography; Retinal Detachment	2017
Foveal Hypoplasia in Patients with Stickler Syndrome. Ophthalmology, 2017, Volume: 124, Issue:6 Topics: Adolescent; Adult; Arthritis; Child; Child, Preschool; Collagen Type II; Connective Tissue Diseases; Cross-Sectional Studies; Eye Abnormalities; Female; Fluorescein Angiography; Fovea Centralis; Hearing Loss, Sensorineural; Humans; Male; Middle Aged; Mutation; Retinal Detachment; Retrospective Studies; Tomography, Optical Coherence; Visual Acuity; Young Adult	2017
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. European journal of human genetics : EJHG, 2010, Volume: 18, Issue:8 Topics: Abnormalities, Multiple; Arthritis; Cleft Palate; Collagen Type II; Connective Tissue Diseases; Craniofacial Abnormalities; DNA Mutational Analysis; Genetic Association Studies; Hearing Loss, Sensorineural; Humans; Retinal Detachment; Sequence Analysis, DNA; Sequence Analysis, RNA	2010
COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia. Mammalian genome : official journal of the International Mammalian Genome Society, 2010, Volume: 21, Issue:7-8 Topics: Animals; Animals, Newborn; Arthritis; Base Sequence; Cataract; Collagen Type IX; Collagen Type XI; Connective Tissue Diseases; Craniofacial Abnormalities; Dog Diseases; Dogs; Dwarfism; Eye Diseases, Hereditary; Female; Genes, Recessive; Genetic Association Studies; Hearing Loss, Sensorineural; Humans; Male; Molecular Sequence Data; Mutation; Osteochondrodysplasias; Pedigree; Retinal Detachment	2010
Focus on molecules: collagens V and XI. Experimental eye research, 2012, Volume: 98 Topics: Animals; Arthritis; Collagen Type V; Collagen Type XI; Connective Tissue Diseases; Cornea; Disease Models, Animal; Ehlers-Danlos Syndrome; Eye Proteins; Hearing Loss, Sensorineural; Humans; Mice; Retinal Detachment; Sclera; Vitreous Body; Vitreous Detachment	2012
Identification of the COL2A1 mutation in patients with type I Stickler syndrome using RNA from freshly isolated peripheral white blood cells. Genetic testing and molecular biomarkers, 2011, Volume: 15, Issue:4 Topics: Adolescent; Adult; Arthritis; Base Sequence; Cloning, Molecular; Collagen Type II; Connective Tissue Diseases; DNA, Complementary; Family; Hearing Loss, Sensorineural; Humans; Japan; Leukocytes; Male; Molecular Sequence Data; Mutation; Pedigree; Retinal Detachment; Reverse Transcriptase Polymerase Chain Reaction; RNA, Messenger; Sequence Analysis, DNA	2011
Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene. Investigative ophthalmology & visual science, 2011, Jul-01, Volume: 52, Issue:7 Topics: Adult; Aged; Arthritis; Collagen Type IX; Connective Tissue Diseases; DNA; DNA Mutational Analysis; Female; Genetic Predisposition to Disease; Hearing Loss, Sensorineural; Humans; Male; Middle Aged; Mutation; Pedigree; Phenotype; Prognosis; Retinal Detachment; Tomography, Optical Coherence; Visual Acuity	2011
A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. American journal of medical genetics. Part A, 2011, Volume: 155A, Issue:7 Topics: Adult; Arthritis; Base Sequence; Child; Child, Preschool; Collagen Type IX; Connective Tissue Diseases; Female; Genes, Recessive; Genotype; Hearing Loss, Sensorineural; Humans; Infant; Male; Mutation; Pedigree; Phenotype; Retinal Detachment	2011
Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus, 2011, Volume: 15, Issue:3 Topics: Arthritis; Collagen Type II; Connective Tissue Diseases; Hearing Loss, Sensorineural; Humans; Infant, Newborn; Male; Mutation; Pierre Robin Syndrome; Polymerase Chain Reaction; Retinal Detachment; Retinal Hemorrhage; Vitrectomy; Vitreous Hemorrhage	2011
Stickler syndrome: an underdiagnosed disease. Report of a family. Bulletin de la Societe belge d'ophtalmologie, 2011, Issue:318 Topics: Adolescent; Adult; Arthritis; Child; Child, Preschool; Collagen Type II; Connective Tissue Diseases; Female; Hearing Loss, Sensorineural; Humans; Infant; Infant, Newborn; Male; Middle Aged; Mutation; Pedigree; Retinal Detachment	2011
Importance of early diagnosis of Stickler syndrome in newborns. Journal of plastic, reconstructive & aesthetic surgery : JPRAS, 2012, Volume: 65, Issue:8 Topics: Arthritis; Connective Tissue Diseases; Diagnosis, Differential; Diagnostic Techniques, Ophthalmological; Diagnostic Techniques, Otological; Early Diagnosis; Female; Follow-Up Studies; Genetic Techniques; Hearing Loss, Sensorineural; Humans; Infant; Infant, Newborn; Male; Pierre Robin Syndrome; Prognosis; Retinal Detachment; Retrospective Studies	2012
Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations. Clinical & experimental ophthalmology, 2012, Volume: 40, Issue:5 Topics: Adolescent; Adult; Aged; Arthritis; Collagen Type II; Connective Tissue Diseases; DNA Mutational Analysis; Exons; Female; Frizzled Receptors; Hearing Loss, Sensorineural; Humans; Male; Middle Aged; Mutation; Pedigree; Polymerase Chain Reaction; Prospective Studies; Retinal Detachment; Visual Acuity; Vitreoretinopathy, Proliferative	2012
Applying and testing the conveniently optimized enzyme mismatch cleavage method to clinical DNA diagnosis. Molecular genetics and metabolism, 2012, Volume: 107, Issue:3 Topics: Arthritis; Base Sequence; Biological Assay; Child, Preschool; Coffin-Lowry Syndrome; Collagen Type II; Connective Tissue Diseases; DNA Restriction Enzymes; Electrophoresis, Polyacrylamide Gel; Exodeoxyribonucleases; Exons; Hearing Loss, Sensorineural; Humans; Infant; Male; Middle Aged; Molecular Sequence Data; Mutation; Nucleic Acid Heteroduplexes; RecQ Helicases; Reproducibility of Results; Retinal Detachment; Ribosomal Protein S6 Kinases, 90-kDa; Sensitivity and Specificity; Silver Staining; Werner Syndrome; Werner Syndrome Helicase	2012
Stickler syndrome associated with congenital glaucoma. Lancet (London, England), 2013, Feb-02, Volume: 381, Issue:9864 Topics: Arthritis; Connective Tissue Diseases; Female; Glaucoma; Head; Hearing Loss, Sensorineural; Humans; Infant, Newborn; Radiography; Retinal Detachment	2013
HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY. Mayo Clinic proceedings, 1965, Volume: 40 Topics: Arthritis; Biochemical Phenomena; Biochemistry; Blindness; Cataract; Connective Tissue Diseases; Genetics, Medical; Glaucoma; Hearing Loss, Sensorineural; Humans; Joint Diseases; Keratitis; Myopia; Pathology; Radiography; Retinal Detachment; Uveitis	1965
[Stickler syndrome]. Boletin medico del Hospital Infantil de Mexico, 1986, Volume: 43, Issue:4 Topics: Abnormalities, Multiple; Adult; Arthritis; Bone and Bones; Child; Cleft Palate; Diagnostic Errors; Face; Female; Genes, Dominant; Humans; Male; Middle Aged; Myopia; Pedigree; Pierre Robin Syndrome; Retinal Detachment	1986
Periodic dialysis in terminal uremia. JAMA, 1967, Feb-06, Volume: 199, Issue:6 Topics: Adolescent; Adult; Anemia; Arthritis; Child; Female; Gastrointestinal Hemorrhage; Glaucoma; Glomerulonephritis; Guanethidine; Humans; Hydralazine; Hypertension; Infections; Kidney Diseases; Male; Methyldopa; Middle Aged; Pericarditis; Peripheral Nervous System Diseases; Peritoneal Dialysis; Polycystic Kidney Diseases; Pregnancy; Pyelonephritis; Renal Dialysis; Reserpine; Retinal Detachment; Thrombosis; Uremia; Urinary Bladder Diseases; Vascular Diseases	1967