Disease: Hereditary primary Fanconi disease
- <em>CDK5RAP2</em> primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects
- A review of inherited cancer syndromes and their relevance to oral squamous cell carcinoma
- Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015
- Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T
- BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors
- Breast-cancer risk in families with mutations in PALB2
- Cancer in dyskeratosis congenita
- Cancer Risks Associated With Germline <em>PALB2</em> Pathogenic Variants: An International Study of 524 Families
- Carnitine insufficiency in children with inborn errors of metabolism: prevalence and treatment efficacy
- Catastrophic chemotherapy toxicity leading to diagnosis of Fanconi anaemia due to <em>FANCD1/BRCA2</em> during adulthood: description of an emerging phenotype
- Catastrophic chemotherapy toxicity leading to diagnosis of Fanconi anaemia due to FANCD1/BRCA2 during adulthood: description of an emerging phenotype
- CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects
- Childhood cancer in families with and without BRCA1 or BRCA2 mutations ascertained at a high-risk breast cancer clinic
- Clinical outcomes in women with breast cancer and a PALB2 mutation: a prospective cohort analysis
- Dermatological manifestations of inherited cancer syndromes in children
- Dyskeratosis congenita is a chromosomal instability disorder
- Elevated levels of IL-1beta in Fanconi anaemia group A patients due to a constitutively active phosphoinositide 3-kinase-Akt pathway are capable of promoting tumour cell proliferation
- Evolution, structure and membrane association of NDUFAF6, an assembly factor for NADH:ubiquinone oxidoreductase (Complex I)
- GENETIC DISORDERS OF RENAL PHOSPHATE HANDLING
- Genetic insights into familial cancers-- update and recent discoveries
- Germline genetic variants in men with prostate cancer and one or more additional cancers
- Germline molecular data in hereditary breast cancer in Brazil: Lessons from a large single-center analysis
- Hereditary and environmental factors associated with risk and progression of head and neck cancer
- Hereditary Predispositions to Myelodysplastic Syndrome
- Heterozygous mutations in PALB2 cause DNA replication and damage response defects
- Hypouricaemia (author's transl)
- Hypouricemia, an old subject and new concepts
- Inherited heterozygous Fanconi anemia gene mutations in a therapy-related CMML patient with a rare <em>NUP98-HOXC11</em> fusion: A case report
- Inherited heterozygous Fanconi anemia gene mutations in a therapy-related CMML patient with a rare NUP98-HOXC11 fusion: A case report
- Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis
- Kidney and vascular function in adult patients with hereditary fructose intolerance
- Lack of impact of the ALDH2 rs671 variant on breast cancer development in Japanese BRCA1/2-mutation carriers
- Long-term outcome of paediatric patients with hereditary tubular disorders
- Low Expression of PALB2 is Associated With Poor Survival in Chinese Women With Primary Breast Cancer
- Multiple synchronous malignancies in an infant with concomitant homozygous <em>BRCA2</em> and <em>PMS2</em> mutations with Fanconi anemia phenotype
- Multiple synchronous malignancies in an infant with concomitant homozygous BRCA2 and PMS2 mutations with Fanconi anemia phenotype
- No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing
- Palb2 synergizes with Trp53 to suppress mammary tumor formation in a model of inherited breast cancer
- PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS
- Pathologic findings in breast, fallopian tube, and ovary specimens in non-BRCA hereditary breast and/or ovarian cancer syndromes: a study of 18 patients with deleterious germline mutations in RAD51C, BARD1, BRIP1, PALB2, MUTYH, or CHEK2
- Pigmentary lesions in patients with increased DNA damage due to defective DNA repair
- Population-based targeted sequencing of 54 candidate genes identifies <em>PALB2</em> as a susceptibility gene for high-grade serous ovarian cancer
- Primary fallopian tube carcinoma (PFTC) in a BRIP-1 mutation carrier: the first case report
- Renal tubular acidosis
- Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals
- The guidelines for clinical practice for carriers of germline mutations in hereditary breast, ovarian, prostate, and pancreatic cancer predisposition genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 (4.2024)
- Two truncating variants in FANCC and breast cancer risk