1391 related articles for article (PubMed ID: 11642233)
1. 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]
2. 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]
3. Tenascin-X deficiency and Ehlers-Danlos syndrome: a case report and review of the literature.
O'Connell M; Burrows NP; van Vlijmen-Willems MJ; Clark SM; Schalkwijk J
Br J Dermatol; 2010 Dec; 163(6):1340-5. PubMed ID: 20649799
[TBL] [Abstract][Full Text] [Related]
4. Elastic fiber abnormalities in hypermobility type Ehlers-Danlos syndrome patients with tenascin-X mutations.
Zweers MC; Dean WB; van Kuppevelt TH; Bristow J; Schalkwijk J
Clin Genet; 2005 Apr; 67(4):330-4. PubMed ID: 15733269
[TBL] [Abstract][Full Text] [Related]
5. Tenascin-X, collagen, elastin, and the Ehlers-Danlos syndrome.
Bristow J; Carey W; Egging D; Schalkwijk J
Am J Med Genet C Semin Med Genet; 2005 Nov; 139C(1):24-30. PubMed ID: 16278880
[TBL] [Abstract][Full Text] [Related]
6. Tenascin-X deficiency is associated with Ehlers-Danlos syndrome.
Burch GH; Gong Y; Liu W; Dettman RW; Curry CJ; Smith L; Miller WL; Bristow J
Nat Genet; 1997 Sep; 17(1):104-8. PubMed ID: 9288108
[TBL] [Abstract][Full Text] [Related]
7. Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome.
Giunta C; Nuytinck L; Raghunath M; Hausser I; De Paepe A; Steinmann B
Am J Med Genet; 2002 May; 109(4):284-90. PubMed ID: 11992482
[TBL] [Abstract][Full Text] [Related]
8. The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.
Malfait F; Coucke P; Symoens S; Loeys B; Nuytinck L; De Paepe A
Hum Mutat; 2005 Jan; 25(1):28-37. PubMed ID: 15580559
[TBL] [Abstract][Full Text] [Related]
9. [The Ehlers-Danlos syndrome: the extracellular matrix scaffold in question].
Fichard A; Chanut-Delalande H; Ruggiero F
Med Sci (Paris); 2003 Apr; 19(4):443-52. PubMed ID: 12836217
[TBL] [Abstract][Full Text] [Related]
10. Molecular genetics in classic Ehlers-Danlos syndrome.
Malfait F; De Paepe A
Am J Med Genet C Semin Med Genet; 2005 Nov; 139C(1):17-23. PubMed ID: 16278879
[TBL] [Abstract][Full Text] [Related]
11. Transplantation of reconstructed human skin on nude mice: a model system to study expression of human tenascin-X and elastic fiber components.
Zweers MC; Schalkwijk J; van Kuppevelt TH; van Vlijmen-Willems IM; Bergers M; Lethias C; Lamme EN
Cell Tissue Res; 2005 Feb; 319(2):279-87. PubMed ID: 15558324
[TBL] [Abstract][Full Text] [Related]
12. Interactions of human tenascin-X domains with dermal extracellular matrix molecules.
Egging D; van den Berkmortel F; Taylor G; Bristow J; Schalkwijk J
Arch Dermatol Res; 2007 Jan; 298(8):389-96. PubMed ID: 17033827
[TBL] [Abstract][Full Text] [Related]
13. Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: prenatal exclusion of this disorder in one family.
Yeowell HN; Walker LC; Farmer B; Heikkinen J; Myllyla R
Hum Mutat; 2000 Jul; 16(1):90. PubMed ID: 10874315
[TBL] [Abstract][Full Text] [Related]
14. Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome.
Lindor NM; Bristow J
Am J Med Genet A; 2005 May; 135(1):75-80. PubMed ID: 15793839
[TBL] [Abstract][Full Text] [Related]
15. COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome.
Symoens S; Malfait F; Renard M; André J; Hausser I; Loeys B; Coucke P; De Paepe A
Hum Mutat; 2009 Feb; 30(2):E395-403. PubMed ID: 18972565
[TBL] [Abstract][Full Text] [Related]
16. Tenascin-X: a candidate gene for benign joint hypermobility syndrome and hypermobility type Ehlers-Danlos syndrome?
Zweers MC; Kucharekova M; Schalkwijk J
Ann Rheum Dis; 2005 Mar; 64(3):504-5. PubMed ID: 15708907
[No Abstract] [Full Text] [Related]
17. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
18. The Ehlers-Danlos syndrome, a disorder with many faces.
De Paepe A; Malfait F
Clin Genet; 2012 Jul; 82(1):1-11. PubMed ID: 22353005
[TBL] [Abstract][Full Text] [Related]
19. Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients.
Demirdas S; Dulfer E; Robert L; Kempers M; van Beek D; Micha D; van Engelen BG; Hamel B; Schalkwijk J; Loeys B; Maugeri A; Voermans NC
Clin Genet; 2017 Mar; 91(3):411-425. PubMed ID: 27582382
[TBL] [Abstract][Full Text] [Related]
20. Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI.
Yeowell HN; Walker LC
Mol Genet Metab; 2000; 71(1-2):212-24. PubMed ID: 11001813
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
