Associated Papers
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc8.xlsx › Supplementary_Table_7C
Assessment of Rare Genetic Variants to Identify Candidate Modifier Genes Underlying Neurological Manifestations in Neurofibromatosis 1 Patients.
Tang J et al.
Genes, 2022
36553485 (PubMed )
Supplement: genes-13-02218-s001.zip › Supplemental_tables.xlsx › S2
Genetic studies in human prion diseases.
Jeong BH et al.
Journal of Korean Medical Science, 2014
Polymorphic microsatellite sites in the PRNP region point to excess of homozygotes in Creutzfeldt-Jakob disease patients.
Geldermann H et al.
Gene, 2006
Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease.
Croes EA et al.
European Journal of Human Genetics : Ejhg, 2004
The human "prion-like" protein Doppel is expressed in both Sertoli cells and spermatozoa.
Peoc'h K et al.
The Journal of Biological Chemistry, 2002
Sporadic--but not variant--Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1.
Mead S et al.
American Journal of Human Genetics, 2001
First report of polymorphisms in the prion-like protein gene (PRND): implications for human prion diseases.
Peoc'h K et al.
Neuroscience Letters, 2000
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