Associated Papers
Molecular identification of Vel-negative blood donors in a population from southern Brazil.
Siegel D et al.
Vox Sanguinis, 2026
SMIM1 missense mutations exert their effect on wild type Vel expression late in erythroid differentiation.
van der Rijst MVE et al.
Transfusion, 2021
[Molecular screening for Vel- blood type and analysis of SMIM1 gene variants].
Liu T et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020
Molecular Blood Group Screening in Donors from Arabian Countries and Iran Using High-Throughput MALDI-TOF Mass Spectrometry and PCR-SSP.
Flesch BK et al.
Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2020
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
Identification of a novel single-nucleotide mutation in SMIM1 gene that results in low Vel antigen expression.
van der Rijst MVE et al.
Transfusion, 2019
SMIM1 intron 2 gene variations leading to variability in Vel antigen expression among Brazilian blood donors.
Dezan MR et al.
Blood Cells, Molecules & Diseases, 2019
SMIM1 at a glance; discovery, genetic basis, recent progress and perspectives.
Aniweh Y et al.
Parasite Epidemiology and Control, 2019
SMIM1 polymorphisms in a donor population from southeast Brazil and their correlation with VEL expression.
Arnoni CP et al.
Blood Transfusion = Trasfusione Del Sangue, 2019
The Polymorphism of SMIM1 Gene in Chinese Dividuals.
Yu Y et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2019
Integrated Molecular Characterization of Gastrointestinal Stromal Tumors (GIST) Harboring the Rare D842V Mutation in PDGFRA Gene.
Indio V et al.
International Journal of Molecular Sciences, 2018
Early Onset Multiple Primary Tumors in Atypical Presentation of Cowden Syndrome Identified by Whole-Exome-Sequencing.
Cavaillé M et al.
Frontiers in Genetics, 2018
[Pedigree investigation and genetic analysis of a case with Vel heterozygous deletion mutation].
Liu T et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2017
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Feliubadaló L et al.
Scientific Reports, 2017
Screening for the SMIM1*64_80 del Allele in blood donors in a population from Southern Brazil.
Costa DC et al.
Transfusion Medicine (oxford, England), 2016
The c.64_80del SMIM1 allele is segregating in the Hutterite population.
Coghlan G et al.
Transfusion, 2016
Impact of genetic variation in the SMIM1 gene on Vel expression levels.
Haer-Wigman L et al.
Transfusion, 2015
Disruption of SMIM1 causes the Vel- blood type.
Ballif BA et al.
Embo Molecular Medicine, 2013
Homozygosity for a null allele of SMIM1 defines the Vel-negative blood group phenotype.
Storry JR et al.
Nature Genetics, 2013