86 related articles for article (PubMed ID: 20960610)
1. Gene symbol: COL1A2. Disease: Ehlers-Danlos syndrome type VIIB.
Giunta C; Steinmann B
Hum Genet; 2008 Jun; 123(5):540. PubMed ID: 20960610
[No Abstract] [Full Text] [Related]
2. The Ehlers-Danlos syndromes.
Yeowell HN; Pinnell SR
Semin Dermatol; 1993 Sep; 12(3):229-40. PubMed ID: 8217561
[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. Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.
Byers PH; Duvic M; Atkinson M; Robinow M; Smith LT; Krane SM; Greally MT; Ludman M; Matalon R; Pauker S; Quanbeck D; Schwarze U
Am J Med Genet; 1997 Oct; 72(1):94-105. PubMed ID: 9295084
[TBL] [Abstract][Full Text] [Related]
5. Novel human pathological mutations. Gene symbol: PLOD1. Disease: Ehlers-Danlos syndrome type VIA, kyphoscoliotic type.
Giunta C; Bürer-Chambaz C; Steinmann B
Hum Genet; 2009 Apr; 125(3):346. PubMed ID: 19320026
[No Abstract] [Full Text] [Related]
6. 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]
7. 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]
8. Efficient strategy for the detection of mutations in acrogeric Ehlers-Danlos syndrome type IV.
Johnson PH; Richards AJ; Lloyd JC; Pope FM; Hopkinson DA
Hum Mutat; 1995; 6(4):336-42. PubMed ID: 8680408
[TBL] [Abstract][Full Text] [Related]
9. Ehlers-Danlos syndrome type IV.
Pinto YM; Pals G; Zijlstra JG; Tulleken JE
N Engl J Med; 2000 Aug; 343(5):366-8. PubMed ID: 10928898
[No Abstract] [Full Text] [Related]
10. 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]
11. Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II).
Schwarze U; Atkinson M; Hoffman GG; Greenspan DS; Byers PH
Am J Hum Genet; 2000 Jun; 66(6):1757-65. PubMed ID: 10796876
[TBL] [Abstract][Full Text] [Related]
12. The Ehlers-Danlos syndrome: a heritable collagen disorder as cause of bleeding.
de Paepe A
Thromb Haemost; 1996 Mar; 75(3):379-86. PubMed ID: 8701392
[No Abstract] [Full Text] [Related]
13. A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.
Schalkwijk J; Zweers MC; Steijlen PM; Dean WB; Taylor G; van Vlijmen IM; van Haren B; Miller WL; Bristow J
N Engl J Med; 2001 Oct; 345(16):1167-75. PubMed ID: 11642233
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition.
Mao JR; Taylor G; Dean WB; Wagner DR; Afzal V; Lotz JC; Rubin EM; Bristow J
Nat Genet; 2002 Apr; 30(4):421-5. PubMed ID: 11925569
[TBL] [Abstract][Full Text] [Related]
16. Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood.
Malfait F; Symoens S; De Backer J; Hermanns-Lê T; Sakalihasan N; Lapière CM; Coucke P; De Paepe A
Hum Mutat; 2007 Apr; 28(4):387-95. PubMed ID: 17211858
[TBL] [Abstract][Full Text] [Related]
17. [Ehlers-Danlos syndrome type I. Ultrastructural study].
Paradisi M; Giubilei L; Canzona F; Angelo C; Onetti Muda A; Puddu P
Minerva Pediatr; 1997 May; 49(5):215-9. PubMed ID: 9340484
[TBL] [Abstract][Full Text] [Related]
18. Structure and expression of the human lysyl hydroxylase gene (PLOD): introns 9 and 16 contain Alu sequences at the sites of recombination in Ehlers-Danlos syndrome type VI patients.
Heikkinen J; Hautala T; Kivirikko KI; Myllylä R
Genomics; 1994 Dec; 24(3):464-71. PubMed ID: 7713497
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Heritable collagen disorders: the paradigm of the Ehlers-Danlos syndrome.
Byers PH; Murray ML
J Invest Dermatol; 2012 Nov; 132(E1):E6-11. PubMed ID: 23154631
[No Abstract] [Full Text] [Related]
[Next] [New Search]