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Items: 1 to 20 of 96

1.

Disease-modifying factors in hereditary angioedema: an RNA expression-based screening.

López-Lera A, Cabo FS, Garrido S, Dopazo A, López-Trascasa M.

Orphanet J Rare Dis. 2013 May 20;8:77. doi: 10.1186/1750-1172-8-77.

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.

3.

Hereditary angioedema in a Jordanian family with a novel missense mutation in the C1-inhibitor N-terminal domain.

Jaradat SA, Caccia S, Rawashdeh R, Melhem M, Al-Hawamdeh A, Carzaniga T, Haddad H.

Mol Immunol. 2016 Mar;71:123-30. doi: 10.1016/j.molimm.2016.02.001. Epub 2016 Feb 16.

PMID:
26895475
4.

Type I hereditary angioedema in Taiwan -- clinical, biological features and genetic study.

Lei WT, Shyur SD, Huang LH, Kao YH, Lo CY.

Asian Pac J Allergy Immunol. 2011 Dec;29(4):327-31.

PMID:
22299312
5.

First case of homozygous C1 inhibitor deficiency.

Blanch A, Roche O, Urrutia I, Gamboa P, Fontán G, López-Trascasa M.

J Allergy Clin Immunol. 2006 Dec;118(6):1330-5. Epub 2006 Sep 18. Erratum in: J Allergy Clin Immunol. 2007 Mar;119(3):745.

PMID:
17137866
6.

The role of ficolins and MASPs in hereditary angioedema due to C1-inhibitor deficiency.

Csuka D, Munthe-Fog L, Skjoedt MO, Kocsis A, Zotter Z, Gál P, Varga L, Farkas H, Füst G, Garred P.

Mol Immunol. 2013 Jul;54(3-4):271-7. doi: 10.1016/j.molimm.2012.12.015. Epub 2013 Jan 12.

PMID:
23318225
7.

Lack of increased prevalence of immunoregulatory disorders in hereditary angioedema due to C1-inhibitor deficiency.

Farkas H, Csuka D, Gács J, Czaller I, Zotter Z, Füst G, Varga L, Gergely P.

Clin Immunol. 2011 Oct;141(1):58-66. doi: 10.1016/j.clim.2011.05.004. Epub 2011 May 19.

PMID:
21636327
8.

Overview of hereditary angioedema caused by C1-inhibitor deficiency: assessment and clinical management.

Bork K, Davis-Lorton M.

Eur Ann Allergy Clin Immunol. 2013 Feb;45(1):7-16. Review.

PMID:
23678554
9.

Hereditary and acquired complement component 1 esterase inhibitor deficiency: a review for the hematologist.

Cicardi M, Johnston DT.

Acta Haematol. 2012;127(4):208-20. doi: 10.1159/000336590. Epub 2012 Mar 27. Review.

10.

Molecular diagnosis and management of hereditary angioedema in a Greek family.

Papadopoulou-Alataki E, Foerster T, Antari V, Pavlitou-Tsiontsi A, Varlamis G.

Int Arch Allergy Immunol. 2008;147(2):166-70. doi: 10.1159/000137286. Epub 2008 Jun 6.

PMID:
18535392
11.

Novel and recurrent mutations in the C1NH gene of Arab patients affected with hereditary angioedema.

Faiyaz-Ul-Haque M, Al-Gazlan S, Abalkhail HA, Al-Abdulatif A, Toulimat M, Peltekova I, Khaliq AM, Al-Dayel F, Zaidi SH.

Int Arch Allergy Immunol. 2010;151(2):149-54. doi: 10.1159/000236005. Epub 2009 Sep 15.

PMID:
19752569
12.

Genetic test indications and interpretations in patients with hereditary angioedema.

Weiler CR, van Dellen RG.

Mayo Clin Proc. 2006 Jul;81(7):958-72. Review.

PMID:
16835976
13.

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
14.

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
15.

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;66(10):1384-90. doi: 10.1111/j.1398-9995.2011.02658.x. Epub 2011 May 30.

16.

Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations.

Bafunno V, Bova M, Loffredo S, Divella C, Petraroli A, Marone G, Montinaro V, Margaglione M, Triggiani M.

Ann Hum Genet. 2014 Mar;78(2):73-82. doi: 10.1111/ahg.12052. Epub 2014 Jan 24.

17.

Increased expression of C1-inhibitor mRNA in patients with hereditary angioedema treated with Danazol.

Pappalardo E, Zingale LC, Cicardi M.

Immunol Lett. 2003 May 1;86(3):271-6.

PMID:
12706530
18.

Hereditary angioedema nationwide study in Slovenia reveals four novel mutations in SERPING1 gene.

Rijavec M, Korošec P, Šilar M, Zidarn M, Miljković J, Košnik M.

PLoS One. 2013;8(2):e56712. doi: 10.1371/journal.pone.0056712. Epub 2013 Feb 20.

19.

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
20.

Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency.

Bygum A, Fagerberg CR, Ponard D, Monnier N, Lunardi J, Drouet C.

Allergy. 2011 Jan;66(1):76-84. doi: 10.1111/j.1398-9995.2010.02456.x. Epub 2010 Aug 30.

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