155 related articles for article (PubMed ID: 10694924)
1. Identification of a new heterozygous point mutation in the COL1A2 gene leading to skipping of exon 9 in a patient with joint laxity, hyperextensibility of skin and blue sclerae. Mutations in brief no. 166. Online.
Feshchenko S; Brinckmann J; Lehmann HW; Koch HG; Müller PK; Kügler S
Hum Mutat; 1998; 12(2):138. PubMed ID: 10694924
[TBL] [Abstract][Full Text] [Related]
2. A novel point mutation in type III collagen gene resulting in exon 24 skipping in a case of vascular type Ehlers-Danlos syndrome.
Okamoto O; Ando T; Watanabe A; Sato F; Mimata H; Shimada T; Fujiwara S
Arch Dermatol Res; 2008 Oct; 300(9):525-9. PubMed ID: 18779970
[TBL] [Abstract][Full Text] [Related]
3. The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.
Carr AJ; Chiodo AA; Hilton JM; Chow CW; Hockey A; Cole WG
J Med Genet; 1994 Apr; 31(4):306-11. PubMed ID: 8071956
[TBL] [Abstract][Full Text] [Related]
4. Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.
Schwarze U; Hata R; McKusick VA; Shinkai H; Hoyme HE; Pyeritz RE; Byers PH
Am J Hum Genet; 2004 May; 74(5):917-30. PubMed ID: 15077201
[TBL] [Abstract][Full Text] [Related]
5. A de novo G+1-->A mutation at the alpha 2(I) exon 16 splice donor site causes skipping of exon 16 in the cDNA of one allele of an OI type IV proband.
Filie JD; Orrison BM; Wang Q; Lewis MB; Marini JC
Hum Mutat; 1993; 2(5):380-8. PubMed ID: 8257992
[TBL] [Abstract][Full Text] [Related]
6. The first Japanese case of the arthrochalasia type of Ehlers-Danlos syndrome with COL1A2 gene mutation.
Hatamochi A; Hamada T; Yoshino M; Hashimoto T
Gene; 2014 Mar; 538(1):199-203. PubMed ID: 24440294
[TBL] [Abstract][Full Text] [Related]
7. Further evidence that the failure to cleave the aminopropeptide of type I procollagen is the cause of Ehlers-Danlos syndrome type VII.
Ho KK; Kong RY; Kuffner T; Hsu LH; Ma L; Cheah KS
Hum Mutat; 1994; 3(4):358-64. PubMed ID: 8081389
[TBL] [Abstract][Full Text] [Related]
8. A compound heterozygote patient with Ehlers-Danlos syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase gene.
Pousi B; Hautala T; Hyland JC; Schröter J; Eckes B; Kivirikko KI; Myllylä R
Hum Mutat; 1998; 11(1):55-61. PubMed ID: 9450904
[TBL] [Abstract][Full Text] [Related]
9. Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. Mutations in brief no. 152. Online.
Mottes M; Gomez Lira M; Zolezzi F; Valli M; Lisi V; Freising P
Hum Mutat; 1998; 12(1):71-2. PubMed ID: 10627137
[TBL] [Abstract][Full Text] [Related]
10. Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.
Pollitt R; McMahon R; Nunn J; Bamford R; Afifi A; Bishop N; Dalton A
Hum Mutat; 2006 Jul; 27(7):716. PubMed ID: 16786509
[TBL] [Abstract][Full Text] [Related]
11. An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.
Nicholls AC; Oliver JE; McCarron S; Harrison JB; Greenspan DS; Pope FM
J Med Genet; 1996 Nov; 33(11):940-6. PubMed ID: 8950675
[TBL] [Abstract][Full Text] [Related]
12. Ehlers-Danlos syndrome type VI results from a nonsense mutation and a splice site-mediated exon-skipping mutation in the lysyl hydroxylase gene.
Yeowell HN; Walker LC
Proc Assoc Am Physicians; 1997 Jul; 109(4):383-96. PubMed ID: 9220536
[TBL] [Abstract][Full Text] [Related]
13. Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV.
Ward LM; Lalic L; Roughley PJ; Glorieux FH
Hum Mutat; 2001 May; 17(5):434. PubMed ID: 11317364
[TBL] [Abstract][Full Text] [Related]
14. A 5' splice site mutation affecting the pre-mRNA splicing of two upstream exons in the collagen COL1A1 gene. Exon 8 skipping and altered definition of exon 7 generates truncated pro alpha 1(I) chains with a non-collagenous insertion destabilizing the triple helix.
Bateman JF; Chan D; Moeller I; Hannagan M; Cole WG
Biochem J; 1994 Sep; 302 ( Pt 3)(Pt 3):729-35. PubMed ID: 7945197
[TBL] [Abstract][Full Text] [Related]
15. A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene.
Walker LC; Marini JC; Grange DK; Filie J; Yeowell HN
Mol Genet Metab; 1999 May; 67(1):74-82. PubMed ID: 10329027
[TBL] [Abstract][Full Text] [Related]
16. Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant.
Weil D; Bernard M; Combates N; Wirtz MK; Hollister DW; Steinmann B; Ramirez F
J Biol Chem; 1988 Jun; 263(18):8561-4. PubMed ID: 2454224
[TBL] [Abstract][Full Text] [Related]
17. Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta.
Wenstrup RJ; Lever LW; Phillips CL; Quarles LD
Am J Med Genet; 1993 Jan; 45(2):228-32. PubMed ID: 8456807
[TBL] [Abstract][Full Text] [Related]
18. An intronic deletion leading to skipping of exon 21 of COL1A2 in a boy with mild osteogenesis imperfecta.
Superti-Furga A; Raghunath M; Pistone FM; Romano C; Steinmann B
Connect Tissue Res; 1993; 29(1):31-40. PubMed ID: 8339544
[TBL] [Abstract][Full Text] [Related]
19. Prevalence of a common point mutation in the dihydropyrimidine dehydrogenase (DPD) gene within the 5'-splice donor site of intron 14 in patients with severe 5-fluorouracil (5-FU)- related toxicity compared with controls.
Raida M; Schwabe W; Häusler P; Van Kuilenburg AB; Van Gennip AH; Behnke D; Höffken K
Clin Cancer Res; 2001 Sep; 7(9):2832-9. PubMed ID: 11555601
[TBL] [Abstract][Full Text] [Related]
20. A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family.
Xia XY; Cui YX; Huang YF; Pan LJ; Yang B; Wang HY; Li XJ; Shi YC; Lu HY; Zhou YC
Clin Chim Acta; 2008 Dec; 398(1-2):148-51. PubMed ID: 18755172
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
