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Items: 1 to 20 of 92

1.

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. doi: 10.1038/gene.2011.39. Epub 2011 Jun 9.

PMID:
21654842
2.

C1q deficiency in an Inuit family: identification of a new class of C1q disease-causing mutations.

Marquart HV, Schejbel L, Sjoholm A, Martensson U, Nielsen S, Koch A, Svejgaard A, Garred P.

Clin Immunol. 2007 Jul;124(1):33-40. Epub 2007 May 21.

PMID:
17513176
4.

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 Mar-Apr;52(2):184-6.

5.

Homozygous hereditary C1q deficiency and systemic lupus erythematosus. A new family and the molecular basis of C1q deficiency in three families.

Slingsby JH, Norsworthy P, Pearce G, Vaishnaw AK, Issler H, Morley BJ, Walport MJ.

Arthritis Rheum. 1996 Apr;39(4):663-70.

PMID:
8630118
6.

Identification of novel coding mutation in C1qA gene in an African-American pedigree with lupus and C1q deficiency.

Namjou B, Keddache M, Fletcher D, Dillon S, Kottyan L, Wiley G, Gaffney PM, Wakeland BE, Liang C, Wakeland EK, Scofield RH, Kaufman K, Harley JB.

Lupus. 2012 Sep;21(10):1113-8. doi: 10.1177/0961203312443993. Epub 2012 Apr 3.

7.

Molecular basis of hereditary C1q deficiency associated with SLE and IgA nephropathy in a Turkish family.

Topaloglu R, Bakkaloglu A, Slingsby JH, Mihatsch MJ, Pascual M, Norsworthy P, Morley BJ, Saatci U, Schifferli JA, Walport MJ.

Kidney Int. 1996 Aug;50(2):635-42.

PMID:
8840296
8.

Molecular basis of hereditary C1q deficiency.

Petry F.

Immunobiology. 1998 Aug;199(2):286-94. Review.

PMID:
9777412
9.

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.

10.

C1q deficiency: identification of a novel missense mutation and treatment with fresh frozen plasma.

Topaloglu R, Taskiran EZ, Tan C, Erman B, Ozaltin F, Sanal O.

Clin Rheumatol. 2012 Jul;31(7):1123-6. doi: 10.1007/s10067-012-1978-4. Epub 2012 May 11.

PMID:
22576477
11.

Survey of Turkish systemic lupus erythematosus patients for a particular mutation of C1Q deficiency.

Topaloglu R, Bakkaloglu A, Slingsby JH, Aydintug O, Besbas N, Saatci U, Walport MJ.

Clin Exp Rheumatol. 2000 Jan-Feb;18(1):75-7.

PMID:
10728448
12.

Common silent mutations in all types of hereditary complement C1q deficiencies.

Petry F, Loos M.

Immunogenetics. 2005 Sep;57(8):566-71. Epub 2005 Sep 29.

PMID:
16086173
13.

Hereditary C1q deficiency and systemic lupus erythematosus.

Bowness P, Davies KA, Norsworthy PJ, Athanassiou P, Taylor-Wiedeman J, Borysiewicz LK, Meyer PA, Walport MJ.

QJM. 1994 Aug;87(8):455-64. Review.

PMID:
7922299
14.

Clinical variability and characteristic autoantibody profile in primary C1q complement deficiency.

Vassallo G, Newton RW, Chieng SE, Haeney MR, Shabani A, Arkwright PD.

Rheumatology (Oxford). 2007 Oct;46(10):1612-4.

15.
16.

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. doi: 10.1016/j.imbio.2013.10.010. Epub 2013 Nov 6. Review.

PMID:
24331529
17.

[Structure and function of complement protein C1q and its role in the development of autoimmune diseases].

Smykał-Jankowiak K, Niemir ZI.

Postepy Hig Med Dosw (Online). 2009 Apr 9;63:134-41. Review. Polish.

18.

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.

PMID:
10776791
19.

Pediatric systemic lupus erythematosus with C1q deficiency.

Kallel-Sellami M, Baili-Klila L, Zerzeri Y, Laadhar L, Blouin J, Abdelmoula MS, Zitouni M, Fremeaux-Bacchi V, Ben Dridi MF, Makni S.

Ann N Y Acad Sci. 2007 Jun;1108:193-6.

PMID:
17893985
20.

Deficiency of the first component of human complement.

Reid KB.

Immunodefic Rev. 1989;1(3):247-60. Review.

PMID:
2561058
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