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307 results

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Page 1
Screening of functional and positional candidate genes in families with common variable immunodeficiency.
Salzer U, Neumann C, Thiel J, Woellner C, Pan-Hammarström Q, Lougaris V, Hagena T, Jung J, Birmelin J, Du L, Metin A, Webster DA, Plebani A, Moschese V, Hammarström L, Schäffer AA, Grimbacher B. Salzer U, et al. Among authors: schaffer aa. BMC Immunol. 2008 Feb 7;9:3. doi: 10.1186/1471-2172-9-3. BMC Immunol. 2008. PMID: 18254984 Free PMC article.
Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes.
Salzer U, Bacchelli C, Buckridge S, Pan-Hammarström Q, Jennings S, Lougaris V, Bergbreiter A, Hagena T, Birmelin J, Plebani A, Webster AD, Peter HH, Suez D, Chapel H, McLean-Tooke A, Spickett GP, Anover-Sombke S, Ochs HD, Urschel S, Belohradsky BH, Ugrinovic S, Kumararatne DS, Lawrence TC, Holm AM, Franco JL, Schulze I, Schneider P, Gertz EM, Schäffer AA, Hammarström L, Thrasher AJ, Gaspar HB, Grimbacher B. Salzer U, et al. Among authors: schaffer aa. Blood. 2009 Feb 26;113(9):1967-76. doi: 10.1182/blood-2008-02-141937. Epub 2008 Nov 3. Blood. 2009. PMID: 18981294 Free PMC article.
DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.
Volk T, Pannicke U, Reisli I, Bulashevska A, Ritter J, Björkman A, Schäffer AA, Fliegauf M, Sayar EH, Salzer U, Fisch P, Pfeifer D, Di Virgilio M, Cao H, Yang F, Zimmermann K, Keles S, Caliskaner Z, Güner SÜ, Schindler D, Hammarström L, Rizzi M, Hummel M, Pan-Hammarström Q, Schwarz K, Grimbacher B. Volk T, et al. Among authors: schaffer aa. Hum Mol Genet. 2015 Dec 20;24(25):7361-72. doi: 10.1093/hmg/ddv437. Epub 2015 Oct 16. Hum Mol Genet. 2015. PMID: 26476407 Free PMC article.
The genetics of hypogammaglobulinemia.
Grimbacher B, Schäffer AA, Peter HH. Grimbacher B, et al. Among authors: schaffer aa. Curr Allergy Asthma Rep. 2004 Sep;4(5):349-58. doi: 10.1007/s11882-004-0083-4. Curr Allergy Asthma Rep. 2004. PMID: 15283873 Review.
Linkage of autosomal-dominant common variable immunodeficiency to chromosome 4q.
Finck A, Van der Meer JW, Schäffer AA, Pfannstiel J, Fieschi C, Plebani A, Webster AD, Hammarström L, Grimbacher B. Finck A, et al. Among authors: schaffer aa. Eur J Hum Genet. 2006 Jul;14(7):867-75. doi: 10.1038/sj.ejhg.5201634. Epub 2006 Apr 26. Eur J Hum Genet. 2006. PMID: 16639407
Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity.
Lopez-Herrera G, Tampella G, Pan-Hammarström Q, Herholz P, Trujillo-Vargas CM, Phadwal K, Simon AK, Moutschen M, Etzioni A, Mory A, Srugo I, Melamed D, Hultenby K, Liu C, Baronio M, Vitali M, Philippet P, Dideberg V, Aghamohammadi A, Rezaei N, Enright V, Du L, Salzer U, Eibel H, Pfeifer D, Veelken H, Stauss H, Lougaris V, Plebani A, Gertz EM, Schäffer AA, Hammarström L, Grimbacher B. Lopez-Herrera G, et al. Among authors: schaffer aa. Am J Hum Genet. 2012 Jun 8;90(6):986-1001. doi: 10.1016/j.ajhg.2012.04.015. Epub 2012 May 17. Am J Hum Genet. 2012. PMID: 22608502 Free PMC article.
307 results