BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

568 related articles for article (PubMed ID: 16513057)

  • 21. [Ehlers-Danlos syndrome--20 years experience with diagnosis and classification at the university skin clinic of Heidelberg].
    Proske S; Hartschuh W; Enk A; Hausser I
    J Dtsch Dermatol Ges; 2006 Apr; 4(4):308-18. PubMed ID: 16638060
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Periodontal Ehlers-Danlos syndrome associated with type III and I collagen deficiencies.
    Mataix J; Bañuls J; Muñoz C; Bermejo A; Climent JM
    Br J Dermatol; 2008 Apr; 158(4):825-30. PubMed ID: 18284404
    [TBL] [Abstract][Full Text] [Related]  

  • 23. [The Ehlers-Danlos and Marfan syndromes in young children].
    De Paepe A; Van den Bossche H; Mortier G; Matton M
    J Genet Hum; 1988 Jun; 36(3):247-53. PubMed ID: 3411305
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Phenotypic overlap of Ehlers-Danlos syndrome types IV and VIII.
    Hartsfield JK; Kousseff BG
    Am J Med Genet; 1990 Dec; 37(4):465-70. PubMed ID: 2260589
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: low risk of pregnancy complications and unexpected longevity in some affected relatives.
    Gilchrist D; Schwarze U; Shields K; MacLaren L; Bridge PJ; Byers PH
    Am J Med Genet; 1999 Feb; 82(4):305-11. PubMed ID: 10051163
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. Abnormality of dermal collagen fibrils in Ehlers Danlos syndrome. Anticipation of the abnormality for the inherited hypermobile disorders.
    Kobayasi T
    Eur J Dermatol; 2004; 14(4):221-9. PubMed ID: 15319154
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV.
    Nuytinck L; De Paepe A; Renard JP; Adriaens F; Leroy J
    Hum Mutat; 1994; 3(3):268-74. PubMed ID: 8019562
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndrome.
    Shimaoka Y; Kosho T; Wataya-Kaneda M; Funakoshi M; Suzuki T; Hayashi S; Mitsuhashi Y; Isei T; Aoki Y; Yamazaki K; Ono M; Makino K; Tanaka T; Kunii E; Hatamochi A
    Br J Dermatol; 2010 Oct; 163(4):704-10. PubMed ID: 20518783
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Oral health in prevalent types of Ehlers-Danlos syndromes.
    De Coster PJ; Martens LC; De Paepe A
    J Oral Pathol Med; 2005 May; 34(5):298-307. PubMed ID: 15817074
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. [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]  

  • 33. Neuromuscular involvement in various types of Ehlers-Danlos syndrome.
    Voermans NC; van Alfen N; Pillen S; Lammens M; Schalkwijk J; Zwarts MJ; van Rooij IA; Hamel BC; van Engelen BG
    Ann Neurol; 2009 Jun; 65(6):687-97. PubMed ID: 19557868
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.
    Schwarze U; Schievink WI; Petty E; Jaff MR; Babovic-Vuksanovic D; Cherry KJ; Pepin M; Byers PH
    Am J Hum Genet; 2001 Nov; 69(5):989-1001. PubMed ID: 11577371
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with Ehlers-Danlos type IV.
    Thakker-Varia S; Anderson DW; Kuivaniemi H; Tromp G; Shin HG; van der Rest M; Glorieux FH; Ala-Kokko L; Stolle CA
    Hum Mutat; 1995; 6(2):116-25. PubMed ID: 7581395
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Another mechanism for the defect in type III collagen accumulation in Ehlers-Danlos syndrome type IV: increased intracellular degradation of the procollagen.
    Utani A; Tanaka T; Nishigori C; Miyachi Y; Danno K; Imamura S; Hosokawa M; Takeda T; Hirayoshi K; Nagata K
    Lab Invest; 1990 Aug; 63(2):181-8. PubMed ID: 2199725
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. 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]  

  • 39. Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations.
    Drera B; Zoppi N; Ritelli M; Tadini G; Venturini M; Wischmeijer A; Nicolazzi MA; Musumeci A; Penco S; Buscemi L; Crivelli S; Danesino C; Clementi M; Calzavara-Pinton P; Viglio S; Valli M; Barlati S; Colombi M
    J Dermatol Sci; 2011 Dec; 64(3):237-40. PubMed ID: 22019127
    [No Abstract]   [Full Text] [Related]  

  • 40. Heritable collagen disorders: from phenotype to genotype.
    De Paepe A
    Verh K Acad Geneeskd Belg; 1998; 60(5):463-82; discussion 482-4. PubMed ID: 9989335
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 29.