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3. Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I. Markova T; Kenis V; Melchenko E; Osipova D; Nagornova T; Orlova A; Zakharova E; Dadali E; Kutsev S Genes (Basel); 2022 Jan; 13(1):. PubMed ID: 35052477 [TBL] [Abstract][Full Text] [Related]
4. [Kniest dysplasia due to mutation of COL2A1 gene]. Wu M; Liu L; Zhou Z; Sheng H; Yin X; Li X; Cheng J; Huang Y; Cai Y; Li C; Fan L; Liu H Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Jun; 32(3):323-6. PubMed ID: 26037341 [TBL] [Abstract][Full Text] [Related]
6. Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with Xu Y; Li L; Wang C; Yue H; Zhang H; Gu J; Hu W; Liu L; Zhang Z Int J Biol Sci; 2020; 16(5):859-868. PubMed ID: 32071555 [No Abstract] [Full Text] [Related]
7. Orthodontic Treatment in a Patient With Kniest Dysplasia: A Case Study and Review of Literature. Jhamb T; Masood H; Arigo J; Rossouw PE Cleft Palate Craniofac J; 2019 Nov; 56(10):1393-1403. PubMed ID: 31213073 [TBL] [Abstract][Full Text] [Related]
8. Tracheomalacia in a neonate with kniest dysplasia: histopathologic and ultrastructural features. Hicks J; De Jong A; Barrish J; Zhu SH; Popek E Ultrastruct Pathol; 2001; 25(1):79-83. PubMed ID: 11297324 [TBL] [Abstract][Full Text] [Related]
9. Anesthetic Implications of a Patient With Kniest Dysplasia and Mitochondrial Disease: A Case Report. Salik I; Kubal K; Barst S A A Pract; 2019 Apr; 12(8):267-269. PubMed ID: 30285969 [TBL] [Abstract][Full Text] [Related]
10. Surgery of the head and neck in patient with Kniest dysplasia: Is wound healing an issue? Husain Q; Cho J; Neugarten J; Modi VK Int J Pediatr Otorhinolaryngol; 2017 Feb; 93():97-99. PubMed ID: 28109507 [TBL] [Abstract][Full Text] [Related]
11. Small deletions in the type II collagen triple helix produce kniest dysplasia. Wilkin DJ; Artz AS; South S; Lachman RS; Rimoin DL; Wilcox WR; McKusick VA; Stratakis CA; Francomano CA; Cohn DH Am J Med Genet; 1999 Jul; 85(2):105-12. PubMed ID: 10406661 [TBL] [Abstract][Full Text] [Related]
13. The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype. Barat-Houari M; Dumont B; Fabre A; Them FT; Alembik Y; Alessandri JL; Amiel J; Audebert S; Baumann-Morel C; Blanchet P; Bieth E; Brechard M; Busa T; Calvas P; Capri Y; Cartault F; Chassaing N; Ciorca V; Coubes C; David A; Delezoide AL; Dupin-Deguine D; El Chehadeh S; Faivre L; Giuliano F; Goldenberg A; Isidor B; Jacquemont ML; Julia S; Kaplan J; Lacombe D; 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; Till M; Touraine R; Vigneron J; Baujat G; Cormier-Daire V; Le Merrer M; Geneviève D; Touitou I Eur J Hum Genet; 2016 Jul; 24(7):992-1000. PubMed ID: 26626311 [TBL] [Abstract][Full Text] [Related]
14. Re-alignment-procedures for skeletal dysplasia in three patients with genetically diverse syndromes. Al Kaissi A; Ganger R; Roetzer KM; Schwarzbraun T; Klaushofer K; Grill F Orthop Surg; 2013 Feb; 5(1):33-9. PubMed ID: 23420745 [TBL] [Abstract][Full Text] [Related]
15. Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies. Zankl A; Neumann L; Ignatius J; Nikkels P; Schrander-Stumpel C; Mortier G; Omran H; Wright M; Hilbert K; Bonafé L; Spranger J; Zabel B; Superti-Furga A Am J Med Genet A; 2005 Feb; 133A(1):61-7. PubMed ID: 15643621 [TBL] [Abstract][Full Text] [Related]
16. Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma. Tarpey PS; Behjati S; Cooke SL; Van Loo P; Wedge DC; Pillay N; Marshall J; O'Meara S; Davies H; Nik-Zainal S; Beare D; Butler A; Gamble J; Hardy C; Hinton J; Jia MM; Jayakumar A; Jones D; Latimer C; Maddison M; Martin S; McLaren S; Menzies A; Mudie L; Raine K; Teague JW; Tubio JM; Halai D; Tirabosco R; Amary F; Campbell PJ; Stratton MR; Flanagan AM; Futreal PA Nat Genet; 2013 Aug; 45(8):923-6. PubMed ID: 23770606 [TBL] [Abstract][Full Text] [Related]
17. Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S). Merrick B; Calder A; Wakeling E Am J Med Genet A; 2015 Dec; 167A(12):3103-7. PubMed ID: 26250472 [TBL] [Abstract][Full Text] [Related]
18. Osteosarcoma in an Adolescent with Kniest Dysplasia: A Case Report. Tetreault A; Ramalingam W; Black J; Miller NH; Donaldson N JBJS Case Connect; 2018; 8(4):e78. PubMed ID: 30303846 [TBL] [Abstract][Full Text] [Related]
19. Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia. Bogaert R; Wilkin D; Wilcox WR; Lachman R; Rimoin D; Cohn DH; Eyre DR Am J Hum Genet; 1994 Dec; 55(6):1128-36. PubMed ID: 7977371 [TBL] [Abstract][Full Text] [Related]
20. Alternative splicing of exon 12 of the COL2A1 gene interrupts the triple helix of type-II collagen in the Kniest form of spondyloepiphyseal dysplasia. Chen L; Yang W; Cole WG J Orthop Res; 1996 Sep; 14(5):712-21. PubMed ID: 8893763 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]