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The Lancet, ISSN 0140-6736, 07/2017, Volume 390, Issue 10090, pp. 124 - 124
To link to full-text access for this article, visit this link: http://dx.doi.org/10.1016/S0140-6736(17)31614-8 Byline: Ioannis Dragoumis (a), Allan Richards... 
STICKLER-SYNDROME | MEDICINE, GENERAL & INTERNAL | Retina | Detachment | Ophthalmology | Myopia | Index Medicus | Abridged Index Medicus
Journal Article
PLOS ONE, ISSN 1932-6203, 05/2019, Volume 14, Issue 5
As a reaction to widespread poverty, a system of coercive welfare developed in Switzerland during the 19th century. Poverty was often thought to result from an... 
RIB FRACTURES | ARCHAEOLOGICAL SITES | ENAMEL HYPOPLASIA | MULTIDISCIPLINARY SCIENCES | AGE ESTIMATION | SCURVY | MENTAL-HEALTH | BONE | STICKLER-SYNDROME | PHASE-ANALYSIS | LESIONS
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2019, Volume 179, Issue 8, pp. 1672 - 1677
Journal Article
INDIAN JOURNAL OF PSYCHIATRY, ISSN 0019-5545, 02/2018, Volume 60, Issue 5, pp. 145 - 145
Conference Proceeding
European journal of medical genetics, ISSN 1769-7212, 07/2019, pp. 103724 - 103724
Pathogenic variants in COL9A1 are primarily associated with autosomal recessive Stickler syndrome. Patients with COL9A1-associated Stickler syndrome present... 
Journal Article
JOURNAL OF AAPOS, ISSN 1091-8531, 06/2011, Volume 15, Issue 3, pp. 311 - 313
Bilateral preretinal and vitreous hemorrhages in infants are rare and can present a diagnostic challenge, with nonaccidental trauma included in the... 
OPHTHALMOLOGY | PEDIATRICS | STICKLER-SYNDROME | LOCUS
Journal Article
Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti, ISSN 1211-9059, 12/2018, Volume 74, Issue 3, pp. 108 - 111
Journal Article
Philosophical Transactions of the Royal Society B: Biological Sciences, ISSN 0962-8436, 2018, Volume 373, Issue 1759, p. 20170335
Collagen is the major structural component of cartilage, and mutations in the genes encoding type XI collagen are associated with severe skeletal dysplasias... 
Biomechanics | Development | Cartilage | Zebrafish | Collagen | Stickler syndrome | development | cartilage | collagen | biomechanics | IDENTIFICATION | PATHOGENESIS | CELL BEHAVIOR | ARTICULAR-CARTILAGE | BIOLOGY | FIBROCHONDROGENESIS | zebrafish | STICKLER-SYNDROME | EXPRESSION | SKELETAL DEVELOPMENT | MUSCLE-CONTRACTION | Index Medicus | 25 | 58 | 1001 | 129 | 197
Journal Article
Clinical Genetics, ISSN 0009-9163, 02/2019, Volume 95, Issue 2, pp. 325 - 328
Stickler syndrome is a collagenopathy that is typically inherited as autosomal dominant disease caused by monoallelic mutations in COL2A1 , COL11A2, and... 
LOXL3 | collagenopathy | lysyl oxidase | novel mutation | Stickler syndrome | OXIDASE-LIKE 3 | GENETICS & HEREDITY | Phenotypes | Collagen (type IX) | Lysine | Collagen | Elastin | Mutation | Lysyl oxidase
Journal Article
by Vithana, Eranga N and Khor, Chiea-Chuen and Qiao, Chunyan and Nongpiur, Monisha E and George, Ronnie and Chen, Li-Jia and Do, Tan and Abu-Amero, Khaled and Huang, Chor Kai and Low, Sancy and Tajudin, Liza-Sharmini A and Perera, Shamira A and Cheng, Ching-Yu and Xu, Liang and Jia, Hongyan and Ho, Ching-Lin and Sim, Kar Seng and Wu, Ren-Yi and Tham, Clement C. Y and Chew, Paul T. K and Su, Daniel H and Oen, Francis T and Sarangapani, Sripriya and Soumittra, Nagaswamy and Osman, Essam A and Wong, Hon-Tym and Tang, Guangxian and Fan, Sujie and Meng, Hailin and Huong, Dao T. L and Wang, Hua and Feng, Bo and Baskaran, Mani and Shantha, Balekudaru and Ramprasad, Vedam L and Kumaramanickavel, Govindasamy and Iyengar, Sudha K and How, Alicia C and Lee, Kelvin Y and Sivakumaran, Theru A and Yong, Victor H. K and Ting, Serena M. L and Li, Yang and Wang, Ya-Xing and Tay, Wan-Ting and Sim, Xueling and Lavanya, Raghavan and Cornes, Belinda K and Zheng, Ying-Feng and Wong, Tina T and Loon, Seng-Chee and Yong, Vernon K. Y and Waseem, Naushin and Yaakub, Azhany and Chia, Kee-Seng and Rand Allingham, R and Hauser, Michael A and Lam, Dennis S. C and Hibberd, Martin L and Bhattacharya, Shomi S and Zhang, Mingzhi and Teo, Yik Ying and Tan, Donald T and Jonas, Jost B and Tai, E-Shyong and Saw, Seang-Mei and Hon, Do Nhu and Al-Obeidan, Saleh A and Liu, Jianjun and Chau, Tran Nguyen Bich and Simmons, Cameron P and Bei, Jin-Xin and Zeng, Yi-Xin and Foster, Paul J and Vijaya, Lingam and Wong, Tien-Yin and Pang, Chi-Pui and Wang, Ningli and Aung, Tin
Nature Genetics, ISSN 1061-4036, 10/2012, Volume 44, Issue 10, pp. 1142 - 1146
Journal Article
by Khan AO
Clinical Ophthalmology, ISSN 1177-5483, 04/2016, Volume 2016, Issue Issue 1, pp. 663 - 664
Arif O Khan Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates I congratulate the authors on their retrospective study of... 
Saudi Arabia | ocular genetics | vitreo-retinopathy | Stickler syndrome
Journal Article
Development (Cambridge, England), ISSN 0950-1991, 10/2018, Volume 145, Issue 19, p. dev167171
Absence of the developing lens results in severe eye defects, including substantial reductions in eye size. How the lens controls eye expansion and the... 
Ciliary body | Vitamin A | Vitreous | Collagen II | Collagen IX | RDH10 | INNER LIMITING MEMBRANE | ANTERIOR SEGMENT | VITREOUS-HUMOR | DEVELOPMENTAL BIOLOGY | MESSENGER-RNAS | AVIAN EMBRYO | RECESSIVE STICKLER SYNDROME | CILIARY MARGINAL ZONE | CHICK-EMBRYO | CELL-DIFFERENTIATION | TRANSGENIC MICE | Index Medicus
Journal Article
Open Rheumatology Journal, ISSN 1874-3129, 2014, Volume 8, Issue 1, pp. 100 - 102
A young woman presents with severe polyarticular osteoarthritis with relevant family history potentially suggesting a hereditary disease. Previously, the... 
Stickler Syndrome | Scoliosis | Osteoarthritis | Myopia
Journal Article
Morphologie, ISSN 1286-0115, 03/2017, Volume 101, Issue 332, pp. 33 - 38
The Stickler syndrome (SS) has been described as a “hereditary progressive arthro-ophtalmopathy” by Stickler in 1965, due to mutations on the collagen genes.... 
Osteoporosis | Collagen mutations | Bone histology | Early osteoarthritis | Stickler syndrome
Journal Article
Clinical Ophthalmology, ISSN 1177-5483, 12/2015, Volume 2016, Issue Issue 1, pp. 1 - 6
Saeed T Alshahrani,1 Nicola G Ghazi,2 Saba Al-Rashaed2 1Ophthalmology Department, King Fahad Specialist Hospital, Dammam, 2Vitreoretinal Department, King... 
Saudi Arabia | rhegmatogenous retinal detachment | Gulf States | Stickler syndrome | retinopexy
Journal Article
EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN 1018-4813, 07/2016, Volume 24, Issue 7, pp. 992 - 1000
Heterozygous COL2A1 variants cause a wide spectrum of skeletal dysplasia termed type II collagenopathies. We assessed the impact of this gene in our French... 
ALPHA-1(II) COLLAGEN CHAINS | SUBSTITUTION | MILD CHONDRODYSPLASIA | II COLLAGEN | GENOTYPE/PHENOTYPE CORRELATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | SPONDYLOEPIPHYSEAL DYSPLASIA | TRIPLE-HELIX | MUTATIONS | STICKLER-SYNDROME | CONGENITA
Journal Article
Korean Journal of Medicine(구 대한내과학회지), ISSN 1738-9364, 2014, Volume 87, Issue 6, p. 738
Stickler 증후군은 안과적, 구강얼굴, 청각, 관절 증상을 특징으로 하는 유전 질환이다. 저자들은 납작한 얼굴, 고도근시, 망박박리로 인한 실명, 저신장을 보이는 Stickler 증후군 환자에서 COL2A1 유전자의 새로운 돌연변이를 발견하여 문헌고찰과 함께 보고하는 바이다. 
COL2A1 | Stickler 증후군 | Stickler syndrome
Journal Article
Genetics in Medicine, ISSN 1098-3600, 04/2019, Volume 21, Issue 4, pp. 948 - 954
Purpose: The aim of this study was to determine the genetic cause of autosomal dominant nonsyndromic hearing loss segregating in a multigenerational family.... 
DFNA37 | nonsyndromic hearing loss | exome sequencing | splice-site variant | COL11A1 | TECTA MUTATIONS | WOLFRAM-SYNDROME | PHENOTYPE | IDENTIFICATION | AFFECTED MEMBERS | IMPAIRMENT | GENE | GENETICS & HEREDITY | DEAFNESS | STICKLER-SYNDROME | XI COLLAGEN | Hearing impairment | Index Medicus
Journal Article
AMERICAN JOURNAL OF HUMAN GENETICS, ISSN 0002-9297, 04/2005, Volume 76, Issue 4, pp. 652 - 662
Campomelic dysplasia ( CD) is a semilethal skeletal malformation syndrome with or without XY sex reversal. In addition to the multiple mutations found within... 
SRY-RELATED GENE | 5-GENERATION FAMILY | TRANSLOCATION | AUTOSOMAL SEX REVERSAL | MUTATION | GENETICS & HEREDITY | HUMAN GENETIC-DISEASE | STOP CODON | STICKLER-SYNDROME | ODS MICE | EXPRESSION
Journal Article
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