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Serum erythropoietin levels in 696 patients investigated for erythrocytosis with JAK2 mutation analysis.
- Published in:
- American Journal of Hematology, 2022, v. 97, n. 4, p. E150, doi. 10.1002/ajh.26471
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- Publication type:
- Article
Clinical evaluation of a hemochromatosis next-generation sequencing gene panel.
- Published in:
- European Journal of Haematology, 2017, v. 98, n. 3, p. 228, doi. 10.1111/ejh.12820
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- Publication type:
- Article
Correction: Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes.
- Published in:
- 2017
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- Publication type:
- Correction Notice
Clinical Utility of Implementing a Frontline NGS-Based DNA and RNA Fusion Panel Test for Patients with Suspected Myeloid Malignancies.
- Published in:
- Molecular Diagnosis & Therapy, 2022, v. 26, n. 3, p. 333, doi. 10.1007/s40291-022-00581-7
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- Publication type:
- Article
Bone marrow‐derived mitochondrial DNA has limited capacity for inter‐tissue transfer in vivo.
- Published in:
- FASEB Journal, 2020, v. 34, n. 7, p. 9297, doi. 10.1096/fj.202000463R
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- Publication type:
- Article
A Case of SF3B1-Positive Myelodysplastic/Myeloproliferative Neoplasm with Ring Sideroblasts and Thrombocytosis.
- Published in:
- Turkish Journal of Hematology, 2019, v. 36, n. 1, p. 48, doi. 10.4274/tjh.galenos.2018.2018.0267
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- Publication type:
- Article
Diagnostic utility of DNA methylation episignature analysis for early diagnosis of KMT2B-related disorders: case report.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1346044
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- Publication type:
- Article
Recurrent genomic alterations in sequential progressive leukoplakia and oral cancer: drivers of oral tumorigenesis?
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 10, p. 2618, doi. 10.1093/hmg/ddt657
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- Publication type:
- Article
NLRP7 affects trophoblast lineage differentiation, binds to overexpressed YY1 and alters CpG methylation.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 3, p. 706, doi. 10.1093/hmg/ddt457
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- Publication type:
- Article
Identification of a microRNA signature associated with progression of leukoplakia to oral carcinoma.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 24, p. 4818, doi. 10.1093/hmg/ddp446
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- Publication type:
- Article
Identification of interactive networks of gene expression associated with osteosarcoma oncogenesis by integrated molecular profiling.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 11, p. 1962, doi. 10.1093/hmg/ddp117
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- Publication type:
- Article
Screening for genes that accelerate the epigenetic aging clock in humans reveals a role for the H3K36 methyltransferase NSD1.
- Published in:
- Genome Biology, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s13059-019-1753-9
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- Publication type:
- Article
An Approach to the Investigation of Thrombocytosis: Differentiating between Essential Thrombocythemia and Secondary Thrombocytosis.
- Published in:
- Advances in Hematology, 2024, v. 2024, p. 1, doi. 10.1155/2024/3056216
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- Publication type:
- Article
Multisite verification of the accuracy of a multi-gene next generation sequencing panel for detection of mutations and copy number alterations in solid tumours.
- Published in:
- PLoS ONE, 2021, v. 16, n. 10, p. 1, doi. 10.1371/journal.pone.0258188
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- Publication type:
- Article
Complexity in Genetic Epilepsies: A Comprehensive Review.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 19, p. 14606, doi. 10.3390/ijms241914606
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- Publication type:
- Article
Functional Insight into and Refinement of the Genomic Boundaries of the JARID2 -Neurodevelopmental Disorder Episignature.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 18, p. 14240, doi. 10.3390/ijms241814240
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- Publication type:
- Article
DNA Methylation Episignatures in Neurodevelopmental Disorders Associated with Large Structural Copy Number Variants: Clinical Implications.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 14, p. 7862, doi. 10.3390/ijms23147862
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- Publication type:
- Article
Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 16, p. 8611, doi. 10.3390/ijms22168611
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- Publication type:
- Article
Interplay between Histone and DNA Methylation Seen through Comparative Methylomes in Rare Mendelian Disorders.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 7, p. 3735, doi. 10.3390/ijms22073735
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- Publication type:
- Article
Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 3, p. 1111, doi. 10.3390/ijms22031111
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- Publication type:
- Article
Diagnostic Utility of Genome-Wide DNA Methylation Analysis in Mendelian Neurodevelopmental Disorders.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 23, p. 9303, doi. 10.3390/ijms21239303
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- Publication type:
- Article
Characterization of functional elements in the neurofibromatosis (NF1) proximal promoter region.
- Published in:
- Oncogene, 2004, v. 23, n. 2, p. 330, doi. 10.1038/sj.onc.1207053
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- Publication type:
- Article
De Novo Pathogenic Variant in FBRSL1 , Non OMIM Gene Paralogue AUTS2 , Causes a Novel Recognizable Syndromic Manifestation with Intellectual Disability; An Additional Patient and Review of the Literature.
- Published in:
- Genes, 2024, v. 15, n. 7, p. 826, doi. 10.3390/genes15070826
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- Publication type:
- Article
What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis.
- Published in:
- Genes, 2023, v. 14, n. 1, p. 165, doi. 10.3390/genes14010165
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- Publication type:
- Article
Examining the Diagnostic Yield of Tumour Testing and Qualifying Germline Concordance for Hereditary Cancer Variants in Patients with High-Grade Serous Carcinoma.
- Published in:
- Genes, 2022, v. 13, n. 8, p. 1398, doi. 10.3390/genes13081398
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- Publication type:
- Article
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.
- Published in:
- Genes, 2021, v. 12, n. 8, p. 1275, doi. 10.3390/genes12081275
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- Publication type:
- Article
The role of the Nrf2 antioxidant pathway in cancer.
- Published in:
- Canadian Journal of Pathology, 2016, v. 8, p. 21
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- Publication type:
- Article
C-MYC as a differentiating marker between angiosarcoma and atypical vascular lesion.
- Published in:
- Canadian Journal of Pathology, 2016, v. 8, p. 9
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- Publication type:
- Article
Myelodysplastic Neoplasms (MDS) with Ring Sideroblasts or SF3B1 Mutations: The Improved Clinical Utility of World Health Organization and International Consensus Classification 2022 Definitions, a Single-Centre Retrospective Chart Review.
- Published in:
- Current Oncology, 2024, v. 31, n. 4, p. 1762, doi. 10.3390/curroncol31040134
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- Publication type:
- Article
Mutational Landscape of Patients Referred for Elevated Hemoglobin Level.
- Published in:
- Current Oncology, 2022, v. 29, n. 10, p. 7209, doi. 10.3390/curroncol29100568
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- Publication type:
- Article
Consensus Recommendations for MRD Testing in Adult B-Cell Acute Lymphoblastic Leukemia in Ontario.
- Published in:
- Current Oncology, 2021, v. 28, n. 2, p. 1376, doi. 10.3390/curroncol28020131
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- Publication type:
- Article
Examining the clinical use of hemochromatosis genetic testing.
- Published in:
- Canadian Journal of Gastroenterology & Hepatology, 2015, v. 29, n. 1, p. 41, doi. 10.1155/2015/941406
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- Publication type:
- Article
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.698595
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- Publication type:
- Article
Peripheral blood epi-signature of Claes- Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C.
- Published in:
- Clinical Epigenetics, 2018, v. 10, p. 1, doi. 10.1186/s13148-018-0453-8
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- Publication type:
- Article
Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy.
- Published in:
- Clinical Epigenetics, 2016, v. 8, p. 1, doi. 10.1186/s13148-016-0254-x
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- Publication type:
- Article
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 3, p. 1, doi. 10.1002/ajmg.c.32056
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- Publication type:
- Article
Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 10, p. 1155, doi. 10.1515/jpem-2017-0397
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- Publication type:
- Article
Sodium‐glucose cotransporter‐2 inhibitor‐associated erythrocytosis: A retrospective cohort study.
- Published in:
- Journal of Internal Medicine, 2024, v. 295, n. 1, p. 103, doi. 10.1111/joim.13722
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- Publication type:
- Article
Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory.
- Published in:
- Frontiers in Oncology, 2023, p. 1, doi. 10.3389/fonc.2023.1208244
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- Publication type:
- Article
The Impact of Artificial Intelligence on Health Equity in Oncology: Scoping Review.
- Published in:
- 2022
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- Publication type:
- journal article
Gender and BCR-ABL transcript type are correlated with molecular response to imatinib treatment in patients with chronic myeloid leukemia.
- Published in:
- European Journal of Haematology, 2016, v. 96, n. 4, p. 360, doi. 10.1111/ejh.12597
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- Publication type:
- Article
Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes.
- Published in:
- PLoS ONE, 2010, v. 5, n. 12, p. 1, doi. 10.1371/journal.pone.0015687
- By:
- Publication type:
- Article
Discovery of Novel Hypermethylated Genes in Prostate Cancer Using Genomic CpG Island Microarrays.
- Published in:
- PLoS ONE, 2009, v. 4, n. 3, p. 1, doi. 10.1371/journal.pone.0004830
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- Publication type:
- Article
In Vitro Analysis of Integrated Global High-Resolution DNA Methylation Profiling with Genomic Imbalance and Gene Expression in Osteosarcoma.
- Published in:
- PLoS ONE, 2008, v. 3, n. 7, p. 1, doi. 10.1371/journal.pone.0002834
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- Publication type:
- Article
Clinical value of next‐generation sequencing compared to cytogenetics in patients with suspected myelodysplastic syndrome.
- Published in:
- British Journal of Haematology, 2021, v. 192, n. 4, p. 729, doi. 10.1111/bjh.16891
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- Publication type:
- Article
Genomic data in prognostic models—what is lost in translation? The case of deletion 17p and mutant TP53 in chronic lymphocytic leukaemia.
- Published in:
- British Journal of Haematology, 2020, v. 188, n. 5, p. 652, doi. 10.1111/bjh.15827
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- Publication type:
- Article
The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation.
- Published in:
- Human Genetics, 2024, v. 143, n. 8, p. 965, doi. 10.1007/s00439-024-02688-9
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- Publication type:
- Article
The defining DNA methylation signature of Floating-Harbor Syndrome.
- Published in:
- Scientific Reports, 2016, p. 38803, doi. 10.1038/srep38803
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- Publication type:
- Article
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature.
- Published in:
- Clinical Epigenetics, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13148-019-0804-0
- By:
- Publication type:
- Article
Incidental findings from cancer next generation sequencing panels.
- Published in:
- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00224-6
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- Publication type:
- Article