Last Posted: Jun 09, 2021
- Rare Germline Variants in Chordoma-Related Genes and Chordoma Susceptibility.
Yepes Sally, et al. Cancers 2021 5 (11)
- Whole genome sequencing of skull-base chordoma reveals genomic alterations associated with recurrence and chordoma-specific survival.
Bai Jiwei et al. Nature communications 2021 12(1) 757
- Analysis of variants at LGALS3 single nucleotide polymorphism loci in skull base chordoma.
Tian Kaibing, et al. Oncology letters 2018 7 (1) 1312-1320
- Targeted next-generation sequencing of pediatric neuro-oncology patients improves diagnosis, identifies pathogenic germline mutations, and directs targeted therapy.
Kline Cassie N et al. Neuro-oncology 2017 19(5) 699-709
- Spinal column chordoma: prognostic significance of clinical variables and T (brachyury) gene SNP rs2305089 for local recurrence and overall survival.
Bettegowda Chetan, et al. Neuro-oncology 2016 9
- SMARCB1/INI1 Involvement in Pediatric Chordoma: A Mutational and Immunohistochemical Analysis.
Antonelli Manila, et al. The American journal of surgical pathology 2016 9
- T gene isoform expression pattern is significantly different between chordomas and notochords.
Wang Ke, et al. Biochemical and biophysical research communications 2015 10
- Characterization of T gene sequence variants and germline duplications in familial and sporadic chordoma.
Kelley Michael J, et al. Human genetics 2014 10 (10) 1289-97
- Genotyping cancer-associated genes in chordoma identifies mutations in oncogenes and areas of chromosomal loss involving CDKN2A, PTEN, and SMARCB1.
Choy Edwin, et al. PloS one 2014 0 (7) e101283
- WRN Cys1367Arg polymorphism is not associated with skull base chordoma.
Wang Ke, et al. Biomedical reports 2014 7 (4) 521-524
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
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- Erythema Multiforme
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- Fragile X Syndrome
- Gaucher Disease
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- Myasthenia Gravis
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