310 related articles for article (PubMed ID: 12836217)
1. [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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. The Ehlers-Danlos syndromes, rare types.
Brady AF; Demirdas S; Fournel-Gigleux S; Ghali N; Giunta C; Kapferer-Seebacher I; Kosho T; Mendoza-Londono R; Pope MF; Rohrbach M; Van Damme T; Vandersteen A; van Mourik C; Voermans N; Zschocke J; Malfait F
Am J Med Genet C Semin Med Genet; 2017 Mar; 175(1):70-115. PubMed ID: 28306225
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. The Ehlers-Danlos syndromes.
Yeowell HN; Pinnell SR
Semin Dermatol; 1993 Sep; 12(3):229-40. PubMed ID: 8217561
[TBL] [Abstract][Full Text] [Related]
10. The Ehlers-Danlos syndrome.
Malfait F; De Paepe A
Adv Exp Med Biol; 2014; 802():129-43. PubMed ID: 24443025
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito.
Toriello HV; Glover TW; Takahara K; Byers PH; Miller DE; Higgins JV; Greenspan DS
Nat Genet; 1996 Jul; 13(3):361-5. PubMed ID: 8673139
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Ehlers-Danlos syndromes and Marfan syndrome.
Callewaert B; Malfait F; Loeys B; De Paepe A
Best Pract Res Clin Rheumatol; 2008 Mar; 22(1):165-89. PubMed ID: 18328988
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. [Vascular Ehlers-Danlos syndromes--biochemical and molecular-genetic investigations].
Lund AM
Ugeskr Laeger; 2006 Feb; 168(9):915-20. PubMed ID: 16513057
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.
Miyake N; Kosho T; Mizumoto S; Furuichi T; Hatamochi A; Nagashima Y; Arai E; Takahashi K; Kawamura R; Wakui K; Takahashi J; Kato H; Yasui H; Ishida T; Ohashi H; Nishimura G; Shiina M; Saitsu H; Tsurusaki Y; Doi H; Fukushima Y; Ikegawa S; Yamada S; Sugahara K; Matsumoto N
Hum Mutat; 2010 Aug; 31(8):966-74. PubMed ID: 20533528
[TBL] [Abstract][Full Text] [Related]
20. Phenotypic effects of biglycan deficiency are linked to collagen fibril abnormalities, are synergized by decorin deficiency, and mimic Ehlers-Danlos-like changes in bone and other connective tissues.
Corsi A; Xu T; Chen XD; Boyde A; Liang J; Mankani M; Sommer B; Iozzo RV; Eichstetter I; Robey PG; Bianco P; Young MF
J Bone Miner Res; 2002 Jul; 17(7):1180-9. PubMed ID: 12102052
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
