Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 8 (of 8 Records) |
Query Trace: X-linked Agammaglobulinemia[original query] |
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A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemia. The Journal of allergy and clinical immunology 2005 Sep 116 (3): 690-7. López-Granados Eduardo, Pérez de Diego Rebeca, Ferreira Cerdán Antonio, Fontán Casariego Gumersindo, García Rodríguez Maria Cr |
Genetic analysis of patients with defects in early B-cell development. Immunological reviews 2005 1 203 216-34. Conley Mary Ellen, Broides Arnon, Hernandez-Trujillo Vivian, Howard Vanessa, Kanegane Hirokazu, Miyawaki Toshio, Shurtleff Sheila |
Genotype-phenotype correlation in Bruton's tyrosine kinase deficiency. Journal of pediatric hematology/oncology 2008 Sep 30 (9): 679-83. Teimourian Shahram, Nasseri Saeed, Pouladi Nima, Yeganeh Mehdi, Aghamohammadi Asgh |
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 |
A novel BTK gene mutation, c.82delC (p.Arg28 Alafs5), in a Korean family with X-linked agammaglobulinemia. Korean journal of pediatrics 2016 12 59 (Suppl 1): S49-S52. Lee Jeongeun, Rhee Minhee, Min Taek Ki, Bang Hae In, Jang Mi-Ae, Kang Eun-Suk, Kim Hee-Jin, Yang Hyeon-Jong, Pyun Bok Ya |
[Genetic study of an X-linked agammaglobulinemia pedigree caused by an BTK mutation]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 11 38 (11): 1081-1086. Wei Chenxi, Yang Rujing, Yuan Xiaogeng, Yu Shihui, Qin Jianping, Tian Xinxian, Zhang M |
Dysregulation of TLR Signaling-Associated Gene Expression in X-linked Agammaglobulinemia: Implications for Correlations Genotype-Phenotype and Disease Expression. Journal of innate immunity 2024 8 . Marcelo Teocchi, Thaís de Andrade Eugênio, Lia Furlaneto Marega, Isabella Quinti, Maria Marluce Dos Santos Vile |
Clinical Utility of Flow-Cytometry for Diagnosis and Genotype Phenotype Correlation in a Cohort of X-linked Agammaglobulinemia Patients. Indian journal of pediatrics 2024 4 . Reetika Malik Yadav, Sneha Sawant Desai, Maya Gupta, Aparna Dalvi, Umair Ahmad Bargir, Neha Jodhawat, Priyanka Setia, Shweta Shinde, Ankita Parab, Ashita Gada, Prasad Taur, Mukesh Desai, Manisha Madkaik |
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