135 related articles for article (PubMed ID: 7874117)
1. A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.
Wilkin DJ; Bogaert R; Lachman RS; Rimoin DL; Eyre DR; Cohn DH
Hum Mol Genet; 1994 Nov; 3(11):1999-2003. PubMed ID: 7874117
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.
Weis MA; Wilkin DJ; Kim HJ; Wilcox WR; Lachman RS; Rimoin DL; Cohn DH; Eyre DR
J Biol Chem; 1998 Feb; 273(8):4761-8. PubMed ID: 9468540
[TBL] [Abstract][Full Text] [Related]
6. Incorporation of structurally defective type II collagen into cartilage matrix in kniest chondrodysplasia.
Fernandes RJ; Wilkin DJ; Weis MA; Wilcox WR; Cohn DH; Rimoin DL; Eyre DR
Arch Biochem Biophys; 1998 Jul; 355(2):282-90. PubMed ID: 9675039
[TBL] [Abstract][Full Text] [Related]
7. Recurrent transition at a CG dinucleotide in exon 12 of COL2A1 produces kniest dysplasia with abnormal RNA splicing by chondrocytes and lymphoblasts and interruption of the triple helix of type II collagen.
Chen L; Yang W; Cole WG
Ann N Y Acad Sci; 1996 Jun; 785():234-7. PubMed ID: 8702139
[No Abstract] [Full Text] [Related]
8. Ophthalmic and molecular genetic findings in Kniest dysplasia.
Sergouniotis PI; Fincham GS; McNinch AM; Spickett C; Poulson AV; Richards AJ; Snead MP
Eye (Lond); 2015 Apr; 29(4):475-82. PubMed ID: 25592122
[TBL] [Abstract][Full Text] [Related]
9. Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia.
Spranger J; Menger H; Mundlos S; Winterpacht A; Zabel B
Pediatr Radiol; 1994; 24(6):431-5. PubMed ID: 7700721
[TBL] [Abstract][Full Text] [Related]
10. Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect.
Winterpacht A; Hilbert M; Schwarze U; Mundlos S; Spranger J; Zabel BU
Nat Genet; 1993 Apr; 3(4):323-6. PubMed ID: 7981752
[TBL] [Abstract][Full Text] [Related]
11. An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.
Tiller GE; Weis MA; Polumbo PA; Gruber HE; Rimoin DL; Cohn DH; Eyre DR
Am J Hum Genet; 1995 Feb; 56(2):388-95. PubMed ID: 7847372
[TBL] [Abstract][Full Text] [Related]
12. A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia.
Vikkula M; Ritvaniemi P; Vuorio AF; Kaitila I; Ala-Kokko L; Peltonen L
Genomics; 1993 Apr; 16(1):282-5. PubMed ID: 8486375
[TBL] [Abstract][Full Text] [Related]
13. Abnormal skeletal growth in Kniest dysplasia caused by type II collagen mutations.
Cole WG
Clin Orthop Relat Res; 1997 Aug; (341):162-9. PubMed ID: 9269170
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect.
Spranger J; Winterpacht A; Zabel B
Am J Med Genet; 1997 Mar; 69(1):79-84. PubMed ID: 9066888
[TBL] [Abstract][Full Text] [Related]
16. [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]
17. The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia.
Winterpacht A; Superti-Furga A; Schwarze U; Stöss H; Steinmann B; Spranger J; Zabel B
J Med Genet; 1996 Aug; 33(8):649-54. PubMed ID: 8863156
[TBL] [Abstract][Full Text] [Related]
18. Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia.
Tiller GE; Rimoin DL; Murray LW; Cohn DH
Proc Natl Acad Sci U S A; 1990 May; 87(10):3889-93. PubMed ID: 2339128
[TBL] [Abstract][Full Text] [Related]
19. Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.
Tiller GE; Polumbo PA; Weis MA; Bogaert R; Lachman RS; Cohn DH; Rimoin DL; Eyre DR
Nat Genet; 1995 Sep; 11(1):87-9. PubMed ID: 7550321
[TBL] [Abstract][Full Text] [Related]
20. Association between Kniest dysplasia and chondrosarcoma in a child.
Hochart A; Dieux A; Coucke P; Fron D; Fayoux P; Labalette P; Boutry N; Escande F; Aubert S; Renaud F; Rocourt N; Vinchon M; Leblond P
Am J Med Genet A; 2015 Dec; 167A(12):3204-8. PubMed ID: 26345137
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]