Associated Papers
Genotype-phenotype characteristics and disease progression of FAN1-related karyomegalic tubulointerstitial nephropathy.
Clince M et al.
Kidney International, 2026
A feasibility study of whole genome germline testing as an adjunct screening tool in a UK general private practice.
Jones AB et al.
Scientific Reports, 2025
Exome sequencing reveals new insights into the germline landscape of inflammatory breast cancer among Tunisian patients.
Boujemaa M et al.
Journal of Translational Medicine, 2025
Exome-First Strategy in Adult Patients With CKD: A Cohort Study.
Doreille A et al.
Kidney International Reports, 2023
36938085 (PubMed )
Supplement: mmc3.xlsx › Sheet1
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
35595529 (PubMed )
Supplement: LSA-2021-01319_TableS3.xlsx › S3E
New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene.
Rejeb I et al.
Bmc Medical Genomics, 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5
Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Jayasinghe K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
32939031 (PubMed )
Supplement: 41436_2020_963_MOESM3_ESM.xlsx › Sheet1
FAN1, a DNA Repair Nuclease, as a Modifier of Repeat Expansion Disorders.
Deshmukh AL et al.
Journal of Huntington's Disease, 2021
33579867 (PubMed )
Supplement: jhd-10-jhd200448-s001.pdf
Case report: a 58 -year -old man with small kidneys and elevated liver enzymes.
Dash J et al.
Bmc Nephrology, 2020
Karyomegalic Interstitial Nephritis: A Case Report and Review of the Literature.
Isnard P et al.
Medicine, 2016
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