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Combinations of Low-Frequency Genetic Variants Might Predispose to Familial Pancreatic Cancer.
- Published in:
- Journal of Personalized Medicine, 2021, v. 11, n. 7, p. 631, doi. 10.3390/jpm11070631
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- Publication type:
- Article
A Novel Low-Risk Germline Variant in the SH2 Domain of the SRC Gene Affects Multiple Pathways in Familial Colorectal Cancer.
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- Journal of Personalized Medicine, 2021, v. 11, n. 4, p. 262, doi. 10.3390/jpm11040262
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- Article
Identification of Transient Receptor Potential Channel 4-Associated Protein as a Novel Candidate Gene Causing Congenital Primary Hypothyroidism.
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- Hormone Research in Paediatrics, 2020, v. 93, n. 1, p. 16, doi. 10.1159/000507114
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- Article
Cancer Predisposition Genes in Cancer-Free Families.
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- Cancers, 2020, v. 12, n. 10, p. 2770, doi. 10.3390/cancers12102770
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- Article
A Germline Mutation in the POT1 Gene Is a Candidate for Familial Non-Medullary Thyroid Cancer.
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- Cancers, 2020, v. 12, n. 6, p. 1441, doi. 10.3390/cancers12061441
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- Publication type:
- Article
Is the C-terminal insertional signal in Gram-negative bacterial outer membrane proteins species-specific or not?
- Published in:
- BMC Genomics, 2012, v. 13, n. 1, p. 1, doi. 10.1186/1471-2164-13-510
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- Publication type:
- Article
TALEN/CRISPR-mediated engineering of a promoterless anti-viral RNAi hairpin into an endogenous miRNA locus.
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- Nucleic Acids Research, 2017, v. 45, n. 1, p. 1, doi. 10.1093/nar/gkw805
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- Publication type:
- Article
The mutational landscape underlying carfilzomib and pomalidomide resistance in relapsed /refractory multiple myeloma.
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- Clinical Lymphoma, Myeloma & Leukemia, 2019, v. 19, p. e83, doi. 10.1016/j.clml.2019.09.133
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- Article
Characterization of rare germline variants in familial multiple myeloma.
- Published in:
- 2021
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- Correction Notice
Familial Cancer Variant Prioritization Pipeline version 2 (FCVPPv2) applied to a papillary thyroid cancer family.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-29952-z
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- Publication type:
- Article
Investigation of Rare Non-Coding Variants in Familial Multiple Myeloma.
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- Cells (2073-4409), 2023, v. 12, n. 1, p. 96, doi. 10.3390/cells12010096
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- Publication type:
- Article
Comprehensive genomic and epigenomic analysis in cancer of unknown primary guides molecularly-informed therapies despite heterogeneity.
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- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31866-4
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- Publication type:
- Article
The genomic and transcriptional landscape of primary central nervous system lymphoma.
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- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30050-y
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- Publication type:
- Article
SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1627, doi. 10.1038/ejhg.2015.46
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- Publication type:
- Article
Mutational patterns and regulatory networks in epigenetic subgroups of meningioma.
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- Acta Neuropathologica, 2019, v. 138, n. 2, p. 295, doi. 10.1007/s00401-019-02008-w
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- Publication type:
- Article
Segregation and potential functional impact of a rare stop-gain PABPC4L variant in familial atypical Parkinsonism.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-50102-6
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- Publication type:
- Article
Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes.
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- Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.660731
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- Publication type:
- Article
Whole Genome Sequencing Prioritizes CHEK2, EWSR1 , and TIAM1 as Possible Predisposition Genes for Familial Non-Medullary Thyroid Cancer.
- Published in:
- Frontiers in Endocrinology, 2021, v. 11, p. N.PAG, doi. 10.3389/fendo.2021.600682
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- Publication type:
- Article
Identification of ZBTB26 as a Novel Risk Factor for Congenital Hypothyroidism.
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- Genes, 2021, v. 12, n. 12, p. 1862, doi. 10.3390/genes12121862
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- Publication type:
- Article
Whole exome sequencing identifies novel germline variants of SLC15A4 gene as potentially cancer predisposing in familial colorectal cancer.
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- Molecular Genetics & Genomics, 2022, v. 297, n. 4, p. 965, doi. 10.1007/s00438-022-01896-0
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- Publication type:
- Article
A T-cell antigen atlas for meningioma: novel options for immunotherapy.
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- Acta Neuropathologica, 2023, v. 146, n. 2, p. 173, doi. 10.1007/s00401-023-02605-w
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- Publication type:
- Article
Molecular profiling of pediatric meningiomas shows tumor characteristics distinct from adult meningiomas.
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- Acta Neuropathologica, 2021, v. 142, n. 5, p. 873, doi. 10.1007/s00401-021-02351-x
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- Publication type:
- Article
YAP1-fusions in pediatric NF2-wildtype meningioma.
- Published in:
- 2020
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- Publication type:
- Letter
A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing.
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- Nature Communications, 2015, v. 6, n. 12, p. 10001, doi. 10.1038/ncomms10001
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- Publication type:
- Article
A report of whole-genome sequencing in neurologic Wilson's disease.
- Published in:
- 2017
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- Publication type:
- case study
Putative second hit rare genetic variants in families with seemingly GBA-associated Parkinson's disease.
- Published in:
- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-020-00163-8
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- Publication type:
- Article
The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1.
- Published in:
- Frontiers in Physiology, 2019, p. N.PAG, doi. 10.3389/fphys.2019.00134
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- Publication type:
- Article
A rare large duplication of MLH1 identified in Lynch syndrome.
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- Hereditary Cancer in Clinical Practice, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s13053-021-00167-0
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- Publication type:
- Article
Pedigree based DNA sequencing pipeline for germline genomes of cancer families.
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- Hereditary Cancer in Clinical Practice, 2016, v. 14, p. 1, doi. 10.1186/s13053-016-0058-1
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- Publication type:
- Article
Targeted therapy of advanced parathyroid carcinoma guided by genomic and transcriptomic profiling.
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- Molecular Oncology, 2023, v. 17, n. 7, p. 1343, doi. 10.1002/1878-0261.13398
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- Publication type:
- Article
Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1878, doi. 10.1002/ajmg.a.38252
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- Publication type:
- Article
DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1369, doi. 10.1002/ajmg.a.38164
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- Publication type:
- Article
Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1502, doi. 10.1002/ajmg.a.37632
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- Publication type:
- Article
Whole Exome Sequencing Identifies APCDD1 and HDAC5 Genes as Potentially Cancer Predisposing in Familial Colorectal Cancer.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 1837, doi. 10.3390/ijms22041837
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- Article
Whole genome sequencing reveals DICER1 as a candidate predisposing gene in familial Hodgkin lymphoma.
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- International Journal of Cancer, 2018, v. 143, n. 8, p. 2076, doi. 10.1002/ijc.31576
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- Publication type:
- Article
Genomic and transcriptomic changes complement each other in the pathogenesis of sporadic Burkitt lymphoma.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-08578-3
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- Publication type:
- Article
Whole genome sequencing puts forward hypotheses on metastasis evolution and therapy in colorectal cancer.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-07041-z
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- Publication type:
- Article
Recurrent Germline Variant in RAD21 Predisposes Children to Lymphoblastic Leukemia or Lymphoma.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 9, p. 5174, doi. 10.3390/ijms23095174
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- Publication type:
- Article
Whole-Exome Sequencing Identifies a Novel Germline Variant in PTK7 Gene in Familial Colorectal Cancer.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 3, p. 1295, doi. 10.3390/ijms23031295
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- Publication type:
- Article