Associated Papers
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome.
Song Y et al.
Bmc Medical Genetics, 2020
A Spectrum of Genetic Variants Contributes to Immune Defects and Pathogenesis of Inflammatory Bowel Diseases.
Uhlig HH et al.
Gastroenterology, 2018
Genetic profile of patients with early onset inflammatory bowel disease.
Girardelli M et al.
Gene, 2018
Exome sequencing for simultaneous mutation screening in children with hemophagocytic lymphohistiocytosis.
Mukda E et al.
International Journal of Hematology, 2017
XIAP deficiency and MEFV variants resulting in an autoinflammatory lymphoproliferative syndrome.
Christiansen M et al.
Bmj Case Reports, 2016
HERC5 is a prognostic biomarker for post-liver transplant recurrent human hepatocellular carcinoma.
Xue F et al.
Journal of Translational Medicine, 2015
The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys.
Ernst A et al.
Molecular Syndromology, 2015
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
[XIAP gene mutation screening in children with hemophagocytic lymphohistiocytosis].
Ou DY et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2014
XIAP Q423P polymorphism and susceptibility to childhood hemophagocytic lymphohistiocytosis.
Ou DY et al.
Pediatric Blood & Cancer, 2014
Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning.
Sieni E et al.
Frontiers in Immunology, 2014
X-linked inhibitor of apoptosis single nucleotide polymorphisms and copy number variation are not risk factors for asthma.
Roscioli E et al.
Respirology (carlton, Vic.), 2013
Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease.
Weiss KH et al.
Journal of Inherited Metabolic Disease, 2010
The 423Q polymorphism of the X-linked inhibitor of apoptosis gene influences monocyte function and is associated with periodic fever.
Ferretti M et al.
Arthritis and Rheumatism, 2009
Identification of polymorphisms in the XIAP gene and analysis of association with lung cancer risk in a Korean population.
Kang HG et al.
Cancer Genetics and Cytogenetics, 2008
Functional nonsynonymous single nucleotide polymorphisms from the TGF-beta protein interaction network.
Savas S et al.
Physiological Genomics, 2007
Human non-synonymous single nucleotide polymorphisms can influence ubiquitin-mediated protein degradation.
Savas S et al.
Omics : a Journal of Integrative Biology, 2007