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Journal Abstract Search

146 related items for PubMed ID: 33590680

  • 1.
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  • 2. GGCX variants leading to biallelic deficiency to γ-carboxylate GRP cause skin laxity in VKCFD1 patients.
    Ghosh S, Kraus K, Biswas A, Müller J, Forin F, Singer H, Höning K, Hornung V, Watzka M, Oldenburg J, Czogalla-Nitsche KJ.
    Hum Mutat; 2022 Jan; 43(1):42-55. PubMed ID: 34816548
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  • 4. The Role of GRP and MGP in the Development of Non-Hemorrhagic VKCFD1 Phenotypes.
    Ghosh S, Oldenburg J, Czogalla-Nitsche KJ.
    Int J Mol Sci; 2022 Jan 12; 23(2):. PubMed ID: 35054981
    [Abstract] [Full Text] [Related]

  • 5. Exon 2 skipping eliminates γ-glutamyl carboxylase activity, indicating a partial splicing defect in a patient with vitamin K clotting factor deficiency.
    Rishavy MA, Hallgren KW, Zhang H, Runge KW, Berkner KL.
    J Thromb Haemost; 2019 Jul 12; 17(7):1053-1063. PubMed ID: 31009158
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  • 6. GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations.
    De Vilder EY, Debacker J, Vanakker OM.
    Int J Mol Sci; 2017 Jan 25; 18(2):. PubMed ID: 28125048
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  • 7. [Partial research progress of GGCX pathogenic variation associated phenotypes].
    Shen G, Liu H, Shen Y, Xi S.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jun 10; 39(6):646-650. PubMed ID: 35773773
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  • 8. [Development of a cell-based diagnostic system for vitamin K-dependent coagulation factor deficiency 1].
    Gao W, Liu H, Su G, Xu Y, Wang Y, Cui L, Huang R, Yang H, Gao M, Xi S, Shen G.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Aug 10; 37(8):811-814. PubMed ID: 32761584
    [Abstract] [Full Text] [Related]

  • 9. Familial deficiency of vitamin K-dependent clotting factors.
    Weston BW, Monahan PE.
    Haemophilia; 2008 Nov 10; 14(6):1209-13. PubMed ID: 19141161
    [Abstract] [Full Text] [Related]

  • 10. Compound heterozygous mutations in the gamma-glutamyl carboxylase gene cause combined deficiency of all vitamin K-dependent blood coagulation factors.
    Rost S, Fregin A, Koch D, Compes M, Müller CR, Oldenburg J.
    Br J Haematol; 2004 Aug 10; 126(4):546-9. PubMed ID: 15287948
    [Abstract] [Full Text] [Related]

  • 11. Characterization of vitamin K-dependent carboxylase mutations that cause bleeding and nonbleeding disorders.
    Tie JK, Carneiro JD, Jin DY, Martinhago CD, Vermeer C, Stafford DW.
    Blood; 2016 Apr 14; 127(15):1847-55. PubMed ID: 26758921
    [Abstract] [Full Text] [Related]

  • 12. γ-Glutamyl carboxylase mutations differentially affect the biological function of vitamin K-dependent proteins.
    Hao Z, Jin DY, Chen X, Schurgers LJ, Stafford DW, Tie JK.
    Blood; 2021 Jan 28; 137(4):533-543. PubMed ID: 33507293
    [Abstract] [Full Text] [Related]

  • 13. GGCX-related congenital combined vitamin K-dependent clotting factors deficiency-1: Description of a fetus with chondrodysplasia punctata.
    Mathonnet A, Cunat S, Allias F, Caillot S, Thonnon C, Till M, Attié-Bitach T, Touraine R, Meunier S, Cartellier C, Rossi M, Attia J, Putoux A.
    Am J Med Genet A; 2022 Jan 28; 188(1):314-318. PubMed ID: 34558179
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  • 14.
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  • 15. Two enzymes catalyze vitamin K 2,3-epoxide reductase activity in mouse: VKORC1 is highly expressed in exocrine tissues while VKORC1L1 is highly expressed in brain.
    Caspers M, Czogalla KJ, Liphardt K, Müller J, Westhofen P, Watzka M, Oldenburg J.
    Thromb Res; 2015 May 28; 135(5):977-83. PubMed ID: 25747820
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  • 17. [Pseudoxanthoma elasticum-like disease with deficiency of vitamin K-dependent clotting factors and cutis laxa features].
    Gusdorf L, Mitcov M, Maradeix S, Cunat S, Martin L, Cribier B.
    Ann Dermatol Venereol; 2016 Apr 28; 143(4):279-83. PubMed ID: 26944767
    [Abstract] [Full Text] [Related]

  • 18. Structural and functional insights into enzymes of the vitamin K cycle.
    Tie JK, Stafford DW.
    J Thromb Haemost; 2016 Feb 28; 14(2):236-47. PubMed ID: 26663892
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  • 19.
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  • 20. Founder mutation Arg485Pro led to recurrent compound heterozygous GGCX genotypes in two German patients with VKCFD type 1.
    Rost S, Geisen C, Fregin A, Seifried E, Müller CR, Oldenburg J.
    Blood Coagul Fibrinolysis; 2006 Sep 28; 17(6):503-7. PubMed ID: 16905958
    [Abstract] [Full Text] [Related]

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