184 related articles for article (PubMed ID: 11161971)
1. 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; 98(2):157-63. PubMed ID: 11161971
[TBL] [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
[TBL] [Abstract][Full Text] [Related]
3. 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
[TBL] [Abstract][Full Text] [Related]
4. Paternal mosaicism and hereditary angioedema in a Taiwanese family.
Yu TC; Shyur SD; Huang LH; Wen DC; Li JS
Ann Allergy Asthma Immunol; 2007 Oct; 99(4):375-9. PubMed ID: 17941288
[TBL] [Abstract][Full Text] [Related]
5. Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema.
Freiberger T; Kolárová L; Mejstrík P; Vyskocilová M; Kuklínek P; Litzman J
Hum Mutat; 2002 Apr; 19(4):461. PubMed ID: 11933207
[TBL] [Abstract][Full Text] [Related]
6. Molecular genetics of C1 inhibitor.
Tosi M
Immunobiology; 1998 Aug; 199(2):358-65. PubMed ID: 9777419
[TBL] [Abstract][Full Text] [Related]
7. Detection of C1 inhibitor mutations in patients with hereditary angioedema.
Zuraw BL; Herschbach J
J Allergy Clin Immunol; 2000 Mar; 105(3):541-6. PubMed ID: 10719305
[TBL] [Abstract][Full Text] [Related]
8. Structure and regulation of the C1 inhibitor gene.
Zahedi K; Prada AE; Davis AE
Behring Inst Mitt; 1993 Dec; (93):115-9. PubMed ID: 8172557
[TBL] [Abstract][Full Text] [Related]
9. Mutations in the C1 inhibitor gene that result in hereditary angioneurotic edema.
Davis AE; Bissler JJ; Cicardi M
Behring Inst Mitt; 1993 Dec; (93):313-20. PubMed ID: 8172583
[TBL] [Abstract][Full Text] [Related]
10. Molecular defects of the C1-inhibitor gene in hereditary angioedema.
Tosi M; Stoppa-Lyonnet D; Carter P; Meo T
Behring Inst Mitt; 1989 Jul; (84):173-9. PubMed ID: 2572212
[TBL] [Abstract][Full Text] [Related]
11. 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; 26(2):135-44. PubMed ID: 15971231
[TBL] [Abstract][Full Text] [Related]
12. 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; 20(5):405-6. PubMed ID: 12402344
[TBL] [Abstract][Full Text] [Related]
13. Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in the C1 inhibitor gene of hereditary angioedema patients.
Duponchel C; Di Rocco C; Cicardi M; Tosi M
Hum Mutat; 2001; 17(1):61-70. PubMed ID: 11139243
[TBL] [Abstract][Full Text] [Related]
14. 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
[TBL] [Abstract][Full Text] [Related]
15. 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; 141(2):158-64. PubMed ID: 22001489
[TBL] [Abstract][Full Text] [Related]
16. Impaired production of both normal and mutant C1 inhibitor proteins in type I hereditary angioedema with a duplication in exon 8.
Ernst SC; Circolo A; Davis AE; Gheesling-Mullis K; Fliesler M; Strunk RC
J Immunol; 1996 Jul; 157(1):405-10. PubMed ID: 8683145
[TBL] [Abstract][Full Text] [Related]
17. Functional analysis of splicing mutations and of an exon 2 polymorphic variant of SERPING1/C1NH.
Duponchel C; Djenouhat K; Frémeaux-Bacchi V; Monnier N; Drouet C; Tosi M
Hum Mutat; 2006 Mar; 27(3):295-6. PubMed ID: 16470590
[TBL] [Abstract][Full Text] [Related]
18. Characterisation of nucleotide sequence variants and disease-specific mutations involving the 3' end of the C1-inhibitor gene in hereditary angio-oedema.
Siddique Z; McPhaden AR; Whaley K
Hum Hered; 1995; 45(2):98-102. PubMed ID: 7750982
[TBL] [Abstract][Full Text] [Related]
19. Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function.
Verpy E; Couture-Tosi E; Eldering E; Lopez-Trascasa M; Späth P; Meo T; Tosi M
J Clin Invest; 1995 Jan; 95(1):350-9. PubMed ID: 7814636
[TBL] [Abstract][Full Text] [Related]
20. HAEdb: a novel interactive, locus-specific mutation database for the C1 inhibitor gene.
Kalmár L; Hegedüs T; Farkas H; Nagy M; Tordai A
Hum Mutat; 2005 Jan; 25(1):1-5. PubMed ID: 15580551
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
