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Journal Abstract Search
159 related items for PubMed ID: 23123409
1. Mutations analysis of C1 inhibitor coding sequence gene among Portuguese patients with hereditary angioedema. Martinho A, Mendes J, Simões O, Nunes R, Gomes J, Dias Castro E, Leiria-Pinto P, Ferreira MB, Pereira C, Castel-Branco MG, Pais L. Mol Immunol; 2013 Apr; 53(4):431-4. PubMed ID: 23123409 [Abstract] [Full Text] [Related]
2. 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 Apr; 10(11):e0142174. PubMed ID: 26535898 [Abstract] [Full Text] [Related]
5. Hereditary angioedema due to C1-inhibitor deficiency in Macedonia: clinical characteristics, novel SERPING1 mutations and genetic factors modifying the clinical phenotype. Grivčeva-Panovska V, Košnik M, Korošec P, Andrejević S, Karadža-Lapić L, Rijavec M. Ann Med; 2018 May; 50(3):269-276. PubMed ID: 29513108 [Abstract] [Full Text] [Related]
6. A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1. Johnsrud I, Kulseth MA, Rødningen OK, Landrø L, Helsing P, Waage Nielsen E, Heimdal K. PLoS One; 2015 May; 10(7):e0131637. PubMed ID: 26154504 [Abstract] [Full Text] [Related]
7. 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; 48(7):485-491. PubMed ID: 27187751 [Abstract] [Full Text] [Related]
8. 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():123-130. PubMed ID: 26895475 [Abstract] [Full Text] [Related]
9. A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency. Vatsiou S, Zamanakou M, Loules G, Psarros F, Parsopoulou F, Csuka D, Valerieva A, Staevska M, Porebski G, Obtulowicz K, Magerl M, Maurer M, Speletas M, Farkas H, Germenis AE. Allergol Int; 2020 Jul; 69(3):443-449. PubMed ID: 31959500 [Abstract] [Full Text] [Related]
10. New mutations in SERPING1 gene of Brazilian patients with hereditary angioedema. Cagini N, Veronez CL, Constantino-Silva RN, Buzolin M, Martin RP, Grumach AS, Velloso LA, Mansour E, Pesquero JB. Biol Chem; 2016 Apr; 397(4):337-44. PubMed ID: 26812872 [Abstract] [Full Text] [Related]
11. Mutational spectrum of the SERPING1 gene in Swiss patients with hereditary angioedema. Steiner UC, Keller M, Schmid P, Cichon S, Wuillemin WA. Clin Exp Immunol; 2017 Jun; 188(3):430-436. PubMed ID: 28194776 [Abstract] [Full Text] [Related]
12. 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; 147(2):129-32. PubMed ID: 23583915 [Abstract] [Full Text] [Related]
13. Expression of the SERPING1 gene is not regulated by promoter hypermethylation in peripheral blood mononuclear cells from patients with hereditary angioedema due to C1-inhibitor deficiency. López-Lera A, Pernia O, López-Trascasa M, Ibanez de Caceres I. Orphanet J Rare Dis; 2014 Jul 22; 9():103. PubMed ID: 25053016 [Abstract] [Full Text] [Related]
14. 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 22; 78(2):73-82. PubMed ID: 24456027 [Abstract] [Full Text] [Related]
15. Gene mapping strategy for Alu elements rearrangements: Detection of new large deletions in the SERPING1 gene causing hereditary angioedema in Brazilian families. Nicolicht P, Faria DOS, Martins-Silva L, Maia LSM, Moreno AS, Arruda LK, Motta AA, Grumach AS, Pesquero JB. Gene; 2019 Feb 15; 685():179-185. PubMed ID: 30389558 [Abstract] [Full Text] [Related]
16. 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 15; 22(6):498. PubMed ID: 14635117 [Abstract] [Full Text] [Related]
17. 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 15; 19(4):461. PubMed ID: 11933207 [Abstract] [Full Text] [Related]
18. Coagulation Factor XII Gene Mutation in Brazilian Families with Hereditary Angioedema with Normal C1 Inhibitor. Moreno AS, Valle SO, Levy S, França AT, Serpa FS, Arcuri HA, Palma MS, Campos WN, Dias MM, Ponard D, Monnier N, Lunardi J, Bork K, Silva WA, Arruda LK. Int Arch Allergy Immunol; 2015 Apr 15; 166(2):114-20. PubMed ID: 25790805 [Abstract] [Full Text] [Related]
20. 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 15; 66(10):1384-90. PubMed ID: 21623829 [Abstract] [Full Text] [Related] Page: [Next] [New Search]