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Journal Abstract Search

364 related items for PubMed ID: 18758157

  • 1. Mutational spectrum of the C1INH (SERPING1) gene in patients with hereditary angioedema.
    Gösswein T, Kocot A, Emmert G, Kreuz W, Martinez-Saguer I, Aygören-Pürsün E, Rusicke E, Bork K, Oldenburg J, Müller CR.
    Cytogenet Genome Res; 2008; 121(3-4):181-8. PubMed ID: 18758157
    [Abstract] [Full Text] [Related]

  • 2. Normal C1 inhibitor mRNA expression level in type I hereditary angioedema patients: newly found C1 inhibitor gene mutations.
    Kang HR, Yim EY, Oh SY, Chang YS, Kim YK, Cho SH, Min KU, Kim YY.
    Allergy; 2006 Feb; 61(2):260-4. PubMed ID: 16409206
    [Abstract] [Full Text] [Related]

  • 3. SERPING1 mutations in 59 families with hereditary angioedema.
    López-Lera A, Garrido S, Roche O, López-Trascasa M.
    Mol Immunol; 2011 Oct; 49(1-2):18-27. PubMed ID: 21864911
    [Abstract] [Full Text] [Related]

  • 4. Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema.
    Kalmár L, Bors A, Farkas H, Vas S, Fandl B, Varga L, Füst G, Tordai A.
    Hum Mutat; 2003 Dec; 22(6):498. PubMed ID: 14635117
    [Abstract] [Full Text] [Related]

  • 5. Pathophysiology of hereditary angioedema.
    Zuraw BL, Christiansen SC.
    Am J Rhinol Allergy; 2011 Dec; 25(6):373-8. PubMed ID: 22185738
    [Abstract] [Full Text] [Related]

  • 6. The pathophysiology of hereditary angioedema.
    Davis AE.
    Clin Immunol; 2005 Jan; 114(1):3-9. PubMed ID: 15596403
    [Abstract] [Full Text] [Related]

  • 7. Hereditary angioedema in Greek families caused by novel and recurrent mutations.
    Speletas M, Boukas K, Papadopoulou-Alataki E, Tsitsami E, Germenis AE.
    Hum Immunol; 2009 Nov; 70(11):925-9. PubMed ID: 19706314
    [Abstract] [Full Text] [Related]

  • 8. Analysis of SERPING1 expression on hereditary angioedema patients: quantitative analysis of full-length and exon 3 splicing variants.
    de la Cruz RM, López-Lera A, López-Trascasa M.
    Immunol Lett; 2012 Jan 30; 141(2):158-64. PubMed ID: 22001489
    [Abstract] [Full Text] [Related]

  • 9. Current update on cellular and molecular mechanisms of hereditary angioedema.
    Walford HH, Zuraw BL.
    Ann Allergy Asthma Immunol; 2014 May 30; 112(5):413-8. PubMed ID: 24484972
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  • 13. Frequent life-threatening laryngeal attacks in two Croatian families with hereditary angioedema due to C1 inhibitor deficiency harbouring a novel frameshift mutation in SERPING1.
    Karadža-Lapić L, Korošec P, Šilar M, Košnik M, Cikojević D, Lozić B, Rijavec M.
    Ann Med; 2016 Nov 30; 48(7):485-491. PubMed ID: 27187751
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  • 15. A review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations.
    Bowen B, Hawk JJ, Sibunka S, Hovick S, Weiler JM.
    Clin Immunol; 2001 Feb 30; 98(2):157-63. PubMed ID: 11161971
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  • 16. Identification of a novel and recurrent mutation in the SERPING1 gene in patients with hereditary angioedema.
    Firinu D, Colomba P, Manconi PE, Barca MP, Fenu L, Piseddu G, Zizzo C, Del Giacco SR, Duro G.
    Clin Immunol; 2013 May 30; 147(2):129-32. PubMed ID: 23583915
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  • 17. Detection of C1 inhibitor (SERPING1/C1NH) mutations in exon 8 in patients with hereditary angioedema: evidence for 10 novel mutations.
    Blanch A, Roche O, López-Granados E, Fontán G, López-Trascasa M.
    Hum Mutat; 2002 Nov 30; 20(5):405-6. PubMed ID: 12402344
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  • 18. Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort.
    Roche O, Blanch A, Duponchel C, Fontán G, Tosi M, López-Trascasa M.
    Hum Mutat; 2005 Aug 30; 26(2):135-44. PubMed ID: 15971231
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  • 19. A single nucleotide deletion at the C1 inhibitor gene as the cause of hereditary angioedema: insights from a Brazilian family.
    Ferraro MF, Moreno AS, Castelli EC, Donadi EA, Palma MS, Arcuri HA, Lange AP, Bork K, Sarti W, Arruda LK.
    Allergy; 2011 Oct 30; 66(10):1384-90. PubMed ID: 21623829
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  • 20. Hereditary Angioedema Due to C1 Inhibitor Deficiency in Serbia: Two Novel Mutations and Evidence of Genotype-Phenotype Association.
    Andrejević S, Korošec P, Šilar M, Košnik M, Mijanović R, Bonači-Nikolić B, Rijavec M.
    PLoS One; 2015 Oct 30; 10(11):e0142174. PubMed ID: 26535898
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