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Journal Abstract Search

172 related items for PubMed ID: 24739904

  • 21. Histological skin changes in heterozygote carriers of mutations in ABCC6, the gene causing pseudoxanthoma elasticum.
    Martin L, Chassaing N, Delaite D, Estève E, Maître F, Le Bert M.
    J Eur Acad Dermatol Venereol; 2007 Mar; 21(3):368-73. PubMed ID: 17309461
    [Abstract] [Full Text] [Related]

  • 22. Pseudoxanthoma elasticum-like phenotypes: more diseases than one.
    Uitto J, Jiang Q.
    J Invest Dermatol; 2007 Mar; 127(3):507-10. PubMed ID: 17299431
    [Abstract] [Full Text] [Related]

  • 23. Novel mutation in ABCC6 gene in a Japanese pedigree with pseudoxanthoma elasticum and retinitis pigmentosa.
    Yoshida S, Honda M, Yoshida A, Nakao S, Goto Y, Nakamura T, Fujisawa K, Ishibashi T.
    Eye (Lond); 2005 Feb; 19(2):215-7. PubMed ID: 15184964
    [Abstract] [Full Text] [Related]

  • 24. Bleeding and non-bleeding phenotypes in patients with GGCX gene mutations.
    Watzka M, Geisen C, Scheer M, Wieland R, Wiegering V, Dörner T, Laws HJ, Gümrük F, Hanalioglu S, Unal S, Albayrak D, Oldenburg J.
    Thromb Res; 2014 Oct; 134(4):856-65. PubMed ID: 25151188
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  • 26. Homology Modeling and Virtual Screening of Proteins Related to PXE and PXE-like Diseases: Insights for Overlapping Metabolites.
    Naima J, Abir RA, Hosen MJ.
    Curr Pharm Biotechnol; 2020 Oct; 21(14):1470-1478. PubMed ID: 32427083
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  • 27. 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
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  • 28. Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms.
    Uitto J, Li Q, Jiang Q.
    J Invest Dermatol; 2010 Mar 14; 130(3):661-70. PubMed ID: 20032990
    [Abstract] [Full Text] [Related]

  • 29. Early-Onset X-Linked Retinitis Pigmentosa in a Heterozygous Female Harboring an Intronic Donor Splice Site Mutation in the Retinitis Pigmentosa GTPase Regulator Gene.
    Shifera AS, Kay CN.
    Ophthalmic Genet; 2015 Mar 14; 36(3):251-6. PubMed ID: 24428633
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  • 30. 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
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  • 31. Inorganic pyrophosphate plasma levels in patients with GGCX-associated PXE-like phenotypes.
    Li Q, Troutman C, Peckiconis M, Wurst T, Terry SF.
    Front Genet; 2024 Jan 28; 15():1429320. PubMed ID: 39399214
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  • 34. [Pseudoxanthoma elasticum with cutis laxa and multiple coagulation factor deficiency: a single genetic entity].
    Dereure O.
    Ann Dermatol Venereol; 2008 Feb 28; 135(2):162-3. PubMed ID: 18342106
    [No Abstract] [Full Text] [Related]

  • 35. Review of clinical and molecular variability in autosomal recessive cutis laxa 2A.
    Morlino S, Nardella G, Castellana S, Micale L, Copetti M, Fusco C, Castori M.
    Am J Med Genet A; 2021 Mar 28; 185(3):955-965. PubMed ID: 33369135
    [Abstract] [Full Text] [Related]

  • 36. GGCX mutations show different responses to vitamin K thereby determining the severity of the hemorrhagic phenotype in VKCFD1 patients.
    Ghosh S, Kraus K, Biswas A, Müller J, Buhl AL, Forin F, Singer H, Höning K, Hornung V, Watzka M, Czogalla-Nitsche KJ, Oldenburg J.
    J Thromb Haemost; 2021 Jun 28; 19(6):1412-1424. PubMed ID: 33590680
    [Abstract] [Full Text] [Related]

  • 37. Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes.
    Akoglu G, Li Q, Gokoz O, Gazyagci AS, Uitto J.
    Int J Dermatol; 2014 Jun 28; 53(6):692-8. PubMed ID: 23675997
    [Abstract] [Full Text] [Related]

  • 38. Pseudoxanthoma elasticum with prominent arterial calcifications evoking CD73 deficiency.
    Devriese M, Legrand A, Courtois MC, Jeunemaitre X, Albuisson J.
    Vasc Med; 2019 Oct 28; 24(5):461-464. PubMed ID: 31164056
    [Abstract] [Full Text] [Related]

  • 39. Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma elasticum (PXE).
    Bacchelli B, Quaglino D, Gheduzzi D, Taparelli F, Boraldi F, Trolli B, Le Saux O, Boyd CD, Ronchetti IP.
    Mod Pathol; 1999 Dec 28; 12(12):1112-23. PubMed ID: 10619263
    [Abstract] [Full Text] [Related]

  • 40. Selected disorders of connective tissue: pseudoxanthoma elasticum, cutis laxa, and lipoid proteinosis.
    Ringpfeil F.
    Clin Dermatol; 2005 Dec 28; 23(1):41-6. PubMed ID: 15708288
    [Abstract] [Full Text] [Related]

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