Found: 30
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9p21.3 Microdeletion involving CDKN2A/2B in a young patient with multiple primary cancers and review of the literature.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 4, p. 1, doi. 10.1101/mcs.a006164
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- Publication type:
- Article
Favourable effect of TNF-α inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation.
- Published in:
- APMIS, 2006, v. 114, n. 12, p. 912, doi. 10.1111/j.1600-0463.2006.apm_522.x
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- Publication type:
- Article
Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark.
- Published in:
- PLoS ONE, 2018, v. 13, n. 1, p. 1, doi. 10.1371/journal.pone.0190050
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- Article
Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants.
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- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01167-6
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- Article
Breast cancer survival in Nordic BRCA2 mutation carriers-unconventional association with oestrogen receptor status.
- Published in:
- 2020
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- Publication type:
- journal article
New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.566266
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- Publication type:
- Article
Prevalence of Pathogenic Germline DICER1 Variants in Young Individuals Thyroidectomised Due to Goitre – A National Danish Cohort.
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- Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.727970
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- Publication type:
- Article
Survival, surveillance, and genetics in patients with Peutz–Jeghers syndrome: A nationwide study.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 1, p. 81, doi. 10.1111/cge.14337
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- Publication type:
- Article
Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study.
- Published in:
- Familial Cancer, 2023, v. 22, n. 4, p. 429, doi. 10.1007/s10689-023-00338-z
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- Publication type:
- Article
Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel.
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- Familial Cancer, 2021, v. 20, n. 4, p. 279, doi. 10.1007/s10689-021-00254-0
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- Publication type:
- Article
Molecular reclassification reveals low prevalence of germline predisposition in children with ependymoma.
- Published in:
- Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-023-01594-x
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- Publication type:
- Article
Redefining germline predisposition in children with molecularly characterized ependymoma: a population-based 20-year cohort.
- Published in:
- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01429-1
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- Publication type:
- Article
A complex of BRCA2 and PP2A-B56 is required for DNA repair by homologous recombination.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-26079-0
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- Publication type:
- Article
Clinical implications of genetic testing in familial intermediate and late-onset colorectal cancer.
- Published in:
- Human Genetics, 2022, v. 141, n. 12, p. 1925, doi. 10.1007/s00439-022-02470-9
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- Publication type:
- Article
The evolutionary impact of childhood cancer on the human gene pool.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-45975-9
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- Publication type:
- Article
Validation study of HPV DNA detection from stained FNA smears by polymerase chain reaction: Improving the diagnostic workup of patients with a tumor on the neck.
- Published in:
- 2016
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- Publication type:
- journal article
GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes.
- Published in:
- Cancers, 2019, v. 11, n. 2, p. 151, doi. 10.3390/cancers11020151
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- Publication type:
- Article
Exploring the hereditary background of renal cancer in Denmark.
- Published in:
- PLoS ONE, 2019, v. 14, n. 4, p. 1, doi. 10.1371/journal.pone.0215725
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- Publication type:
- Article
The BTNL2 A allele variant is frequent in Danish patients with sarcoidosis.
- Published in:
- Clinical Respiratory Journal, 2011, v. 5, n. 2, p. 105, doi. 10.1111/j.1752-699X.2010.00206.x
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- Publication type:
- Article
Blau syndrome-associated mutations in exon 4 of the caspase activating recruitment domain 15 ( CARD 15) gene are not found in ethnic Danes with sarcoidosis.
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- Clinical Respiratory Journal, 2007, v. 1, n. 2, p. 74, doi. 10.1111/j.1752-699X.2007.00037.x
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- Publication type:
- Article
Classification of Missense Variants in XRCC2 by Functional Analysis: Implications for Breast Cancer Association Studies.
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- Human Mutation, 2016, v. 37, n. 9, p. 172, doi. 10.1002/humu.22886
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- Publication type:
- Article
Functional characterization of MLH1 missense variants identified in lynch syndrome patients.
- Published in:
- Human Mutation, 2012, v. 33, n. 12, p. 1647, doi. 10.1002/humu.22153
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- Publication type:
- Article
Novel Somatic RET Mutation Questioning the Causality of the RET I852M Germline Sequence Variant in Multiple Endocrine Neoplasia 2A.
- Published in:
- Thyroid, 2017, v. 27, n. 8, p. 1103, doi. 10.1089/thy.2017.0131
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- Publication type:
- Article
Distribution of RET Mutations in Multiple Endocrine Neoplasia 2 in Denmark 1994-2014: A Nationwide Study.
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- Thyroid, 2017, v. 27, n. 2, p. 215, doi. 10.1089/thy.2016.0411
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- Publication type:
- Article
Novel Genetic Causes of Gastrointestinal Polyposis Syndromes.
- Published in:
- Application of Clinical Genetics, 2021, v. 14, p. 455, doi. 10.2147/TACG.S295157
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- Publication type:
- Article
Novel Alu insertion in the ZEB2 gene causing Mowat‐Wilson syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63581
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- Publication type:
- Article
Aortic dissection in a young male with persistent ductus arteriosus and a novel variant in MYLK.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63458
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- Publication type:
- Article
The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classification.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2232
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- Publication type:
- Article
Human papillomavirus-related carcinoma with adenoid cystic-like features of the sinonasal tract: clinical and morphological characterization of six new cases.
- Published in:
- Histopathology, 2017, v. 70, n. 6, p. 880, doi. 10.1111/his.13162
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- Publication type:
- Article
Genetic predisposition and evolutionary traces of pediatric cancer risk: a prospective 5-year population-based genome sequencing study of children with CNS tumors.
- Published in:
- Neuro-Oncology, 2023, v. 25, n. 4, p. 761, doi. 10.1093/neuonc/noac187
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- Publication type:
- Article