Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 17 (of 17 Records) |
| Query Trace: Immunoglobulin A Deficiency 2[original query] |
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| A functional PTPN22 polymorphism associated with several autoimmune diseases is not associated with IgA deficiency in the Spanish population. BMC medical genetics 2006 7 (): 25. Núñez Concepción, López-Mejías Raquel, Martínez Alfonso, García-Rodríguez M Cruz, Fernández-Arquero Miguel, de la Concha Emilio G, Urcelay Ele |
| Association of HLA-*08:DRB1*03 with immunoglobulin A-deficiency. Indian journal of pediatrics 2007 Nov 74 (11): 1021-4. Czyzewska-Buczyñska Agnieszka, Majkowska-Skrobek Grazyna, Jankowski Ad |
| Interleukin-6 gene variation in Spanish patients with immunoglobulin-A deficiency. Human immunology 0 69 (4-5): 301-5. López-Mejías Raquel, Martínez Alfonso, Del Pozo Nadia, Fernández-Arquero Miguel, Ferreira Antonio, Urcelay Elena, Fontán Gumersindo, de la Concha Emilio G, Núñez Concepci |
| Lack of evidence of a role of XBP1 and PRDM1 polymorphisms in Spanish patients with immunoglobulin A deficiency. Human immunology 2009 Nov 70 (11): 950-2. del Pozo Nadia, López-Mejías Raquel, Fernández-Arquero Miguel, Ferreira Antonio, García-Rodríguez Mari Cruz, de la Concha Emilio G, Fontán Gumersindo, Urcelay Elena, Núñez Concepci |
| Role of polymorphisms in the TNFRSF13B (TACI) gene in Spanish patients with immunoglobulin A deficiency. Tissue antigens 2009 Jul 74 (1): 42-5. López-Mejías R, del Pozo N, Fernández-Arquero M, Ferreira A, García-Rodríguez M C, de la Concha E G, Fontán G, Urcelay E, Martínez A, Núñez |
Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.
Nature genetics 2010 Sep 42 (9): 777-80. Ferreira Ricardo C, Pan-Hammarström Qiang, Graham Robert R, Gateva Vesela, Fontán Gumersindo, Lee Annette T, Ortmann Ward, Urcelay Elena, Fernández-Arquero Miguel, Núñez Concepción, Jorgensen Gudmundur, Ludviksson Björn R, Koskinen Sinikka, Haimila Katri, Clark Hilary F, Klareskog Lars, Gregersen Peter K, Behrens Timothy W, Hammarström Lenna |
| MSH5 is not a genetic predisposing factor for immunoglobulin A deficiency but marks the HLA-DRB1*0102 subgroup carrying susceptibility. Human immunology 2010 Sep 71 (9): 861-4. Pozo Nadia Del, Medrano Luz María, Cénit M Carmen, Fernández-Arquero Miguel, Ferreira Antonio, García-Rodríguez Mari Cruz, de la Concha Emilio G, Urcelay Elena, Núñez Concepci |
| Association of immunoglobulin A deficiency and elevated thyrotropin-receptor autoantibodies in two Nordic countries. Human immunology 2011 Feb 72 (2): 166-72. Jorgensen Gudmundur H, Ornolfsson Arni E, Johannesson Ari, Gudmundsson Sveinn, Janzi Magdalena, Wang Ning, Hammarström Lennart, Ludviksson Bjorn |
| Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR. Blood 2012 Mar 119 (11): 2552-5. Borte Stephan, von Döbeln Ulrika, Fasth Anders, Wang Ning, Janzi Magdalena, Winiarski Jacek, Sack Ulrich, Pan-Hammarström Qiang, Borte Michael, Hammarström Lenna |
| [Study on immunoglobulin A Deficiency(IgAD) in Chinese Shanghai Blood Donors]. Zhongguo shi yan xue ye xue za zhi 2016 Aug 24 (4): 1216-20. Lu Ping, Ling Bing, Wang Ning, Hammarstrom Lenna |
| Monogenic mutations associated with IgA deficiency. Expert review of clinical immunology 2016 Jun . Abolhassani Hassan, Aghamohammadi Asghar, Hammarström Lenna |
| Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency.
Nature genetics 2016 Nov 48 (11): 1425-1429. Bronson Paola G, Chang Diana, Bhangale Tushar, Seldin Michael F, Ortmann Ward, Ferreira Ricardo C, Urcelay Elena, Pereira Luis Fernández, Martin Javier, Plebani Alessandro, Lougaris Vassilios, Friman Vanda, Freiberger Tomáš, Litzman Jiri, Thon Vojtech, Pan-Hammarström Qiang, Hammarström Lennart, Graham Robert R, Behrens Timothy |
| Genomic association and further characterisation of faecal immunoglobulin A deficiency in German Shepherd dogs. Veterinary medicine and science 2021 8 7 (6): 2144-2155. Grützner Niels, Heilmann Romy M, Tress Ursula, Peters Iain R, Suchodolski Jan S, Steiner Jörg |
| Low-Risk Human Leukocyte Antigen Genes and Mild Villous Atrophy Typify Celiac Disease With Immunoglobulin A Deficiency. Journal of pediatric gastroenterology and nutrition 2021 4 72 (6): 889-893. Schirru Enrico, Jores Rita Désirée, Rossino Rossano, Corpino Mara, Cucca Francesco, Congia Mau |
| STXBP6 and B3GNT6 Genes are Associated With Selective IgA Deficiency.
Frontiers in genetics 2022 1 12 736235. Lim Che Kang, Bronson Paola G, Varade Jezabel, Behrens Timothy W, Hammarström Lenna |
| Primary ovarian insufficiency consequence of autoimmune diseases: a bidirectional two-sample Mendelian randomization study. Frontiers in endocrinology 2024 12 15 1417896. Yongming Du, Yichao Hu, Yuehua Sheng, Tianhong Zhu, Shenping Liu, Huiqing Ding, Yutao Gu |
| Causative mechanisms and clinical impact of immunoglobulin deficiencies in Ataxia Telangiectasia. The Journal of allergy and clinical immunology 2024 1 . Sanami Takada, Thomas J Weitering, Nienke J H van Os, Likun Du, Ingrid Pico-Knijnenburg, Thomas B Kuipers, Hailiang Mei, Elisabeth Salzer, Michèl A A P Willemsen, Corry M R Weemaes, Qiang Pan-Hammarstrom, Mirjam van der Bu |
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