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
Unveiling the molecular profile of a prostate carcinoma: implications for personalized medicine.
Agostini M et al.
Biology Direct, 2024
Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.
Meijer TG et al.
Cancers, 2024
38398132 (PubMed )
Supplement: cancers-16-00741-s001.zip › Table_S1-2_WES_results.xlsx › Table_S1
FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women.
Figlioli G et al.
European Journal of Human Genetics : Ejhg, 2023
36707629 (PubMed )
Supplement: 41431_2022_1257_MOESM1_ESM.pdf
Prevalence of FANCM germline variants in BRCA1/2 negative breast and/or ovarian cancer patients from Pakistan.
Rashid MU et al.
Familial Cancer, 2023
Hunting for the elusive target antigen in gestational alloimmune liver disease (GALD).
Rieneck K et al.
Plos One, 2023
37862305 (PubMed )
Supplement: pone.0286432.s010.xlsx › Ark1
PALLD mutation in a European family conveys a stromal predisposition for familial pancreatic cancer.
Liotta L et al.
Jci Insight, 2021
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients.
Del Valle J et al.
Cancers, 2020
32235514 (PubMed )
Supplement: cancers-12-00829-s001.zip › cancers-727310-supplementary › Table_S3.xlsx › Supplementary_Table_3
FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine.
Nguyen-Dumont T et al.
Bmc Medical Genetics, 2018
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.
Villa F et al.
Immunity & Ageing : I & A, 2014
25469153 (PubMed )
Supplement: 12979_2014_19_MOESM2_ESM.xls › Sheet1
Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition.
García MJ et al.
Carcinogenesis, 2009
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