These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
6. Homozygosity for a novel mutation in the C1q C chain gene in a Turkish family with hereditary C1q deficiency. Gulez N; Genel F; Atlihan F; Gullstrand B; Skattum L; Schejbel L; Garred P; Truedsson L J Investig Allergol Clin Immunol; 2010; 20(3):255-8. PubMed ID: 20635792 [TBL] [Abstract][Full Text] [Related]
7. Molecular basis of a new type of C1q-deficiency associated with a non-functional low molecular weight (LMW) C1q: parallels and differences to other known genetic C1q-defects. Petry F; Hauptmann G; Goetz J; Grosshans E; Loos M Immunopharmacology; 1997 Dec; 38(1-2):189-201. PubMed ID: 9476130 [TBL] [Abstract][Full Text] [Related]
8. New C1q mutation in a Tunisian family. Jlajla H; Sellami MK; Sfar I; Laadhar L; Zerzeri Y; Abdelmoula MS; Gorgi Y; Dridi MF; Makni S Immunobiology; 2014 Mar; 219(3):241-6. PubMed ID: 24331529 [TBL] [Abstract][Full Text] [Related]
9. Hereditary C1q deficiency: a new family with C1qA deficiency. Sun-Tan C; Ozgür TT; Kilinç G; Topaloğlu R; Gököz O; Ersoy-Evans S; Sanal O Turk J Pediatr; 2010; 52(2):184-6. PubMed ID: 20560256 [TBL] [Abstract][Full Text] [Related]
10. Molecular, genetic and epidemiologic studies on selective complete C1q deficiency in Turkey. Berkel AI; Birben E; Oner C; Oner R; Loos M; Petry F Immunobiology; 2000 Jan; 201(3-4):347-55. PubMed ID: 10776791 [TBL] [Abstract][Full Text] [Related]
11. Multiple identification of a particular type of hereditary C1q deficiency in the Turkish population: review of the cases and additional genetic and functional analysis. Petry F; Berkel AI; Loos M Hum Genet; 1997 Jul; 100(1):51-6. PubMed ID: 9225968 [TBL] [Abstract][Full Text] [Related]
13. Identification of a novel non-coding mutation in C1qB in a Dutch child with C1q deficiency associated with recurrent infections. van Schaarenburg RA; Daha NA; Schonkeren JJ; Nivine Levarht EW; van Gijlswijk-Janssen DJ; Kurreeman FA; Roos A; van Kooten C; Koelman CA; Ernst-Kruis MR; Toes RE; Huizinga TW; Lankester AC; Trouw LA Immunobiology; 2015 Mar; 220(3):422-7. PubMed ID: 25454803 [TBL] [Abstract][Full Text] [Related]
14. Common silent mutations in all types of hereditary complement C1q deficiencies. Petry F; Loos M Immunogenetics; 2005 Sep; 57(8):566-71. PubMed ID: 16086173 [TBL] [Abstract][Full Text] [Related]
15. Molecular basis of hereditary C1q deficiency. Petry F Immunobiology; 1998 Aug; 199(2):286-94. PubMed ID: 9777412 [TBL] [Abstract][Full Text] [Related]
16. Molecular characterization of the complement C1q, C2 and C4 genes in Brazilian patients with juvenile systemic lupus erythematosus. Liphaus BL; Umetsu N; Jesus AA; Bando SY; Silva CA; Carneiro-Sampaio M Clinics (Sao Paulo); 2015 Mar; 70(3):220-7. PubMed ID: 26017655 [TBL] [Abstract][Full Text] [Related]
17. Molecular basis of hereditary C1q deficiency--revisited: identification of several novel disease-causing mutations. Schejbel L; Skattum L; Hagelberg S; Åhlin A; Schiller B; Berg S; Genel F; Truedsson L; Garred P Genes Immun; 2011 Dec; 12(8):626-34. PubMed ID: 21654842 [TBL] [Abstract][Full Text] [Related]
18. Complex medical history of a patient with a compound heterozygous mutation in Lubbers R; Beaart-van de Voorde LJJ; van Leeuwen K; de Boer M; Gelderman KA; van den Berg MJ; Ketel AG; Simon A; de Ree J; Huizinga TWJ; Steup-Beekman GM; Trouw LA Lupus; 2019 Sep; 28(10):1255-1260. PubMed ID: 31357913 [TBL] [Abstract][Full Text] [Related]
19. Systemic lupus erythematosus with C1q deficiency: treatment with fresh frozen plasma. Ekinci Z; Ozturk K Lupus; 2018 Jan; 27(1):134-138. PubMed ID: 29113537 [TBL] [Abstract][Full Text] [Related]