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Items: 1 to 20 of 145

1.
2.

Detection of C1 inhibitor mutations in patients with hereditary angioedema.

Zuraw BL, Herschbach J.

J Allergy Clin Immunol. 2000 Mar;105(3):541-6.

PMID:
10719305
3.

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.

PMID:
16409206
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.

PMID:
17941288
5.

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. Review.

PMID:
2572212
6.

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.

PMID:
11933207
7.

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.

PMID:
14635117
8.

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. Erratum in: Hum Mutat. 2003 Jan;21(1):102..

PMID:
12402344
9.

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. Review.

PMID:
11161971
10.
11.

[Identification of a novel mutation of C1 inhibitor gene in a Chinese family with hereditary angioedema].

Zhi YX, Zhang HY, Huang SZ.

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2003 Dec;25(6):664-6. Chinese.

PMID:
14714307
12.

A point mutation in exon 7 of the C1-inhibitor gene causing type I hereditary angioedema.

Ono H, Kawaguchi H, Ishii N, Nakajima H.

Hum Genet. 1996 Oct;98(4):452-3.

PMID:
8792821
14.

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. doi: 10.1016/j.imlet.2011.07.011. Epub 2011 Oct 4.

PMID:
22001489
15.

Hereditary and acquired C1-inhibitor deficiency: biological and clinical characteristics in 235 patients.

Agostoni A, Cicardi M.

Medicine (Baltimore). 1992 Jul;71(4):206-15.

PMID:
1518394
16.

Hereditary angioedema caused by a point mutation of exon 7 in the C1 inhibitor gene.

Ishii N, Ono H, Kawaguchi H, Nakajima H.

Br J Dermatol. 1996 Apr;134(4):731-3.

PMID:
8733381
17.

Clinical, biochemical, and genetic characterization of a novel estrogen-dependent inherited form of angioedema.

Binkley KE, Davis A 3rd.

J Allergy Clin Immunol. 2000 Sep;106(3):546-50.

PMID:
10984376
18.

CpG mutations in the reactive site of human C1 inhibitor.

Skriver K, Radziejewska E, Silbermann JA, Donaldson VH, Bock SC.

J Biol Chem. 1989 Feb 25;264(6):3066-71.

19.
20.

Hereditary angioedema due to C1 inhibitor deficiency: patient registry and approach to the prevalence in Spain.

Roche O, Blanch A, Caballero T, Sastre N, Callejo D, López-Trascasa M.

Ann Allergy Asthma Immunol. 2005 Apr;94(4):498-503.

PMID:
15875532

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