Associated Papers
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia.
Soukarieh O et al.
Npj Genomic Medicine, 2023
Next-Generation Sequencing Technologies in Blood Group Typing.
Fürst D et al.
Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2020
Blood group typing from whole-genome sequencing data.
Paganini J et al.
Plos One, 2020
Validated Reference Panel from Renewable Source of Genomic DNA Available for Standardization of Blood Group Genotyping.
Volkova E et al.
The Journal of Molecular Diagnostics : Jmd, 2019
Erythrocyte genotyping for transfusion-dependent patients at the Azienda Universitaria Policlinico of Naples.
Belsito A et al.
Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
The AQP1 mutation c.601delG causes the Co-negative phenotype in four patients belonging to the Romani (Gypsy) ethnic group.
Flesch BK et al.
Blood Transfusion = Trasfusione Del Sangue, 2014
Molecular basis of two novel and related high-prevalence antigens in the Kell blood group system, KUCI and KANT, and their serologic and spatial association with K11 and KETI.
Velliquette RW et al.
Transfusion, 2013
A new AQP1 null allele identified in a Gypsy woman who developed an anti-CO3 during her first pregnancy.
Saison C et al.
Vox Sanguinis, 2012
A functional AQP1 allele producing a Co(a-b-) phenotype revises and extends the Colton blood group system.
Arnaud L et al.
Transfusion, 2010
A silenced allele in the Colton blood group system.
Karpasitou K et al.
Vox Sanguinis, 2010
Genetic variation in human aquaporins and effects on phenotypes of water homeostasis.
Sorani MD et al.
Human Mutation, 2008
The molecular genetics of blood group polymorphism.
Daniels G
Transplant Immunology, 2005
[A molecular approach to the structure, polymorphism and function of blood groups].
Cartron JP
Transfusion Clinique Et Biologique : Journal De La Societe Francaise De Transfusion Sanguine, 1996