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Journal Abstract Search

687 related items for PubMed ID: 29709596

  • 1. Vascular aspects of the Ehlers-Danlos Syndromes.
    Malfait F.
    Matrix Biol; 2018 Oct; 71-72():380-395. PubMed ID: 29709596
    [Abstract] [Full Text] [Related]

  • 2. Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders.
    De Paepe A, Malfait F.
    Br J Haematol; 2004 Dec; 127(5):491-500. PubMed ID: 15566352
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. Bleeding in the heritable connective tissue disorders: mechanisms, diagnosis and treatment.
    Malfait F, De Paepe A.
    Blood Rev; 2009 Sep; 23(5):191-7. PubMed ID: 19592142
    [Abstract] [Full Text] [Related]

  • 6. The Ehlers-Danlos syndrome.
    Malfait F, De Paepe A.
    Adv Exp Med Biol; 2014 Sep; 802():129-43. PubMed ID: 24443025
    [Abstract] [Full Text] [Related]

  • 7. The Ehlers-Danlos syndromes.
    Yeowell HN, Pinnell SR.
    Semin Dermatol; 1993 Sep; 12(3):229-40. PubMed ID: 8217561
    [Abstract] [Full Text] [Related]

  • 8. 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 Sep; 71(1-2):212-24. PubMed ID: 11001813
    [Abstract] [Full Text] [Related]

  • 9. Ehlers-Danlos syndrome associated with glycosaminoglycan abnormalities.
    Miyake N, Kosho T, Matsumoto N.
    Adv Exp Med Biol; 2014 Sep; 802():145-59. PubMed ID: 24443026
    [Abstract] [Full Text] [Related]

  • 10. Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome.
    Kosho T, Mizumoto S, Watanabe T, Yoshizawa T, Miyake N, Yamada S.
    Genes (Basel); 2019 Dec 29; 11(1):. PubMed ID: 31905796
    [Abstract] [Full Text] [Related]

  • 11. Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis.
    Syx D, Van Damme T, Symoens S, Maiburg MC, van de Laar I, Morton J, Suri M, Del Campo M, Hausser I, Hermanns-Lê T, De Paepe A, Malfait F.
    Hum Mutat; 2015 May 29; 36(5):535-47. PubMed ID: 25703627
    [Abstract] [Full Text] [Related]

  • 12. Pathogenic mechanisms in genetically defined Ehlers-Danlos syndromes.
    Syx D, Malfait F.
    Trends Mol Med; 2024 Sep 29; 30(9):824-843. PubMed ID: 39147618
    [Abstract] [Full Text] [Related]

  • 13. [Ehlers-Danlos syndromes].
    Germain DP.
    Ann Dermatol Venereol; 2017 Dec 29; 144(12):744-758. PubMed ID: 29032848
    [Abstract] [Full Text] [Related]

  • 14. The 2017 international classification of the Ehlers-Danlos syndromes.
    Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B.
    Am J Med Genet C Semin Med Genet; 2017 Mar 29; 175(1):8-26. PubMed ID: 28306229
    [Abstract] [Full Text] [Related]

  • 15. Ehlers-Danlos syndrome: recent advances and current understanding of the clinical and genetic heterogeneity.
    Byers PH.
    J Invest Dermatol; 1994 Nov 29; 103(5 Suppl):47S-52S. PubMed ID: 7963684
    [Abstract] [Full Text] [Related]

  • 16. A floppy infant without lingual frenulum and kyphoscoliosis: Ehlers Danlos syndrome case report.
    Conti R, Zanchi C, Barbi E.
    Ital J Pediatr; 2021 Feb 12; 47(1):28. PubMed ID: 33579342
    [Abstract] [Full Text] [Related]

  • 17. Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome.
    Ritelli M, Cinquina V, Venturini M, Pezzaioli L, Formenti AM, Chiarelli N, Colombi M.
    Genes (Basel); 2019 Feb 12; 10(2):. PubMed ID: 30759870
    [Abstract] [Full Text] [Related]

  • 18.
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  • 19. Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency.
    Mizumoto S, Kosho T, Hatamochi A, Honda T, Yamaguchi T, Okamoto N, Miyake N, Yamada S, Sugahara K.
    Clin Biochem; 2017 Aug 12; 50(12):670-677. PubMed ID: 28238810
    [Abstract] [Full Text] [Related]

  • 20. Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromes.
    Syx D, Delbaere S, Bui C, De Clercq A, Larson G, Mizumoto S, Kosho T, Fournel-Gigleux S, Malfait F.
    Am J Physiol Cell Physiol; 2022 Dec 01; 323(6):C1843-C1859. PubMed ID: 35993517
    [Abstract] [Full Text] [Related]

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