These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

139 related articles for article (PubMed ID: 15793839)

  • 1. 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]  

  • 2. 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]  

  • 3. A clinical and cardiovascular survey of Ehlers-Danlos syndrome patients with complete deficiency of tenascin-X.
    Peeters AC; Kucharekova M; Timmermans J; van den Berkmortel FW; Boers GH; Nováková IR; Egging D; den Heijer M; Schalkwijk J
    Neth J Med; 2004 May; 62(5):160-2. PubMed ID: 15366699
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Well-defined clinical presentation of Ehlers-Danlos syndrome in patients with tenascin-X deficiency: a report of four cases.
    Hendriks AGM; Voermans NC; Schalkwijk J; Hamel BC; van Rossum MM
    Clin Dysmorphol; 2012 Jan; 21(1):15-18. PubMed ID: 21959861
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Tenascin-X, collagen, and Ehlers-Danlos syndrome: tenascin-X gene defects can protect against adverse cardiovascular events.
    Petersen JW; Douglas JY
    Med Hypotheses; 2013 Sep; 81(3):443-7. PubMed ID: 23830591
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel
    Rymen D; Ritelli M; Zoppi N; Cinquina V; Giunta C; Rohrbach M; Colombi M
    Genes (Basel); 2019 Oct; 10(11):. PubMed ID: 31731524
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Recurrent gastrointestinal perforation in a patient with Ehlers-Danlos syndrome due to tenascin-X deficiency.
    Sakiyama T; Kubo A; Sasaki T; Yamada T; Yabe N; Matsumoto K; Futei Y
    J Dermatol; 2015 May; 42(5):511-4. PubMed ID: 25772043
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. [Type IV Ehlers-Danlos syndrome associated with mitral valve prolapse: a case report].
    Watanabe S; Ishimitsu T; Inoue K; Tomizawa T; Noguchi Y; Sugishita Y; Ito I
    J Cardiol Suppl; 1988; 18():97-105, discussion 106. PubMed ID: 3076899
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. A TNXB splice donor site variant as a cause of hypermobility type Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.
    Lao Q; Mallappa A; Rueda Faucz F; Joyal E; Veeraraghavan P; Chen W; Merke DP
    Mol Genet Genomic Med; 2021 Feb; 9(2):e1556. PubMed ID: 33332743
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia.
    Chen W; Perritt AF; Morissette R; Dreiling JL; Bohn MF; Mallappa A; Xu Z; Quezado M; Merke DP
    Hum Mutat; 2016 Sep; 37(9):893-7. PubMed ID: 27297501
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.
    Merke DP; Chen W; Morissette R; Xu Z; Van Ryzin C; Sachdev V; Hannoush H; Shanbhag SM; Acevedo AT; Nishitani M; Arai AE; McDonnell NB
    J Clin Endocrinol Metab; 2013 Feb; 98(2):E379-87. PubMed ID: 23284009
    [TBL] [Abstract][Full Text] [Related]  

  • 18. EDS IV (acrogeria): new autosomal dominant and recessive types.
    Pope FM; Nicholls AC; Jones PM; Wells RS; Lawrence D
    J R Soc Med; 1980 Mar; 73(3):180-6. PubMed ID: 7230200
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Ehlers-Danlos syndrome type IV D: an autosomal recessive disorder.
    Sulh HM; Steinmann B; Rao VH; Dudin G; Zeid JA; Slim M; Der Kaloustian VM
    Clin Genet; 1984 Mar; 25(3):278-87. PubMed ID: 6705261
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.