Associated Papers
Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel.
Veneziano C et al.
Frontiers in Endocrinology, 2025
41458559 (PubMed )
Supplement: Table4.xlsx › sheet1
Liquid Biopsy of Cerebrospinal Fluid Enables Selective Profiling of Glioma Molecular Subtypes at First Clinical Presentation.
Orzan F et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
36648487 (PubMed )
Supplement: ccr-22-2903_supplementary_data_2_suppds2.xlsx › Variants_idenetified_in_Cohort2
Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.
de Valles-Ibáñez G et al.
Frontiers in Immunology, 2018
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC11_ERR166336
MutS Homologues hMSH4 and hMSH5: Genetic Variations, Functions, and Implications in Human Diseases.
Clark N et al.
Current Genomics, 2013
MutS homologue hMSH5: recombinational DSB repair and non-synonymous polymorphic variants.
Wu X et al.
Plos One, 2013
High-density SNP mapping of the HLA region identifies multiple independent susceptibility loci associated with selective IgA deficiency.
Ferreira RC et al.
Plos Genetics, 2012
MSH5 is not a genetic predisposing factor for immunoglobulin A deficiency but marks the HLA-DRB1*0102 subgroup carrying susceptibility.
Pozo ND et al.
Human Immunology, 2010
Antibody deficiency diseases.
Pan-Hammarström Q et al.
European Journal of Immunology, 2008
MutS homologues hMSH4 and hMSH5: diverse functional implications in humans.
Her C et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2007
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