Search Results - "Epstein CG"

Genetic mosaicism – importance of clinical features to improve diagnosis.

Authors: Daschkey, Svenja Dietzel-Dahmen, Jutta Drechsler, Matthias et al.

Source: Journal of Rare Diseases. 2/23/2026, Vol. 5 Issue 1, p1-11. 11p.

Validation of genomic and transcriptomic models of homologous recombination deficiency in a real-world pan-cancer cohort.

Authors: Leibowitz, Benjamin D. Dougherty, Bonnie V. Bell, Joshua S. K. et al.

Source: BMC Cancer. 5/28/2022, Vol. 22 Issue 1, p1-17. 17p.

Developing a real-world database for oncology: a descriptive analysis of breast cancer in Argentina.

Authors: Streich, Guillermo Blanco Villalba, Marcelo Cid, Christian et al.

Source: Ecancermedicalscience. 2022, Vol. 16 Issue 1415-1493, p1-13. 13p.

Incident disease associations with mosaic chromosomal alterations on autosomes, X and Y chromosomes: insights from a phenome-wide association study in the UK Biobank.

Authors: Lin, Shu-Hong Brown, Derek W. Rose, Brandon et al.

Source: Cell & Bioscience. 7/23/2021, Vol. 11 Issue 1, p1-11. 11p.

Male breast cancer, age and sex chromosome aneuploidy.

Authors: Jacobs, P A Maloney, V Cooke, R et al.

Source: British Journal of Cancer. 3/5/2013, Vol. 108 Issue 4, p959-963. 5p.

Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome.

Authors: Machiela MJ Zhou W Karlins E et al.

Source: Nature communications [Nat Commun] 2016 Jun 13; Vol. 7, pp. 11843. Date of Electronic Publication: 2016 Jun 13.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Detectable clonal mosaicism and its relationship to aging and cancer.

Authors: Jacobs KB Yeager M Zhou W et al.

Source: Nature genetics [Nat Genet] 2012 May 06; Vol. 44 (6), pp. 651-8. Date of Electronic Publication: 2012 May 06.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Changing genetic paradigms: creating next-generation genetic databases as tools to understand the emerging complexities of genotype/phenotype relationships.

Authors: Gottlieb B Beitel LK Trifiro M

Source: Human genomics [Hum Genomics] 2014 May 22; Vol. 8, pp. 9. Date of Electronic Publication: 2014 May 22.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE

Human Herpesvirus-6 : General Virology, Epidemiology, and Clinical Pathology

Authors: Gerhard Krueger Dharam Ablashi

Resource Type: eBook.

Subjects: Herpesvirus diseases, Human herpesvirus-6 infections, Human herpesvirus-6

Categories: MEDICAL / General, MEDICAL / Epidemiology

Treatment patterns and associated outcomes among patients with HER2+ metastatic breast cancer in the United States: an observational cohort study.

Authors: Lam C Varghese D Collins J et al.

Source: The oncologist [Oncologist] 2025 Apr 04; Vol. 30 (4).

Publication Type: Journal Article; Observational Study

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 9607837 Publication Model: Print Cited Medium: Internet ISSN: 1549-490X (Electronic) Linking ISSN: 10837159 NLM ISO Abbreviation: Oncologist Subsets: MEDLINE

Evidence Synthesis and Linkage for Modelling the Cost-Effectiveness of Diagnostic Tests: Preliminary Good Practice Recommendations.

Authors: Shinkins B Allen AJ Karichu J et al.

Source: Applied health economics and health policy [Appl Health Econ Health Policy] 2024 Mar; Vol. 22 (2), pp. 131-144. Date of Electronic Publication: 2024 Feb 05.

Publication Type: Journal Article

Journal Info: Publisher: Open Mind Journals Ltd Country of Publication: New Zealand NLM ID: 101150314 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1179-1896 (Electronic) Linking ISSN: 11755652 NLM ISO Abbreviation: Appl Health Econ Health Policy Subsets: MEDLINE

Chromosome instability and aneuploidy in the mammalian brain.

Authors: Albert O Sun S Huttner A et al.

Source: Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology [Chromosome Res] 2023 Nov 01; Vol. 31 (4), pp. 32. Date of Electronic Publication: 2023 Nov 01.

Publication Type: Journal Article; Review; Research Support, N.I.H., Extramural

Journal Info: Publisher: Kluwer Academic Publishers Country of Publication: Netherlands NLM ID: 9313452 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-6849 (Electronic) Linking ISSN: 09673849 NLM ISO Abbreviation: Chromosome Res Subsets: MEDLINE

Murine models of clonal haematopoiesis to assess mechanisms of cardiovascular disease.

Authors: Wang Y Sano S Ogawa H et al.

Source: Cardiovascular research [Cardiovasc Res] 2022 May 06; Vol. 118 (6), pp. 1413-1432.

Publication Type: Journal Article; Review; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

Journal Info: Publisher: Oxford Journals Country of Publication: England NLM ID: 0077427 Publication Model: Print Cited Medium: Internet ISSN: 1755-3245 (Electronic) Linking ISSN: 00086363 NLM ISO Abbreviation: Cardiovasc Res Subsets: MEDLINE

Mosaic loss of human Y chromosome: what, how and why.

Authors: Guo X Dai X Zhou T et al.

Source: Human genetics [Hum Genet] 2020 Apr; Vol. 139 (4), pp. 421-446. Date of Electronic Publication: 2020 Feb 04.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Neurofibromatosis type 2 discordance in monozygous twins.

Authors: Amico S Smith P Tobi S et al.

Source: Familial cancer [Fam Cancer] 2020 Jan; Vol. 19 (1), pp. 37-40.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 100898211 Publication Model: Print Cited Medium: Internet ISSN: 1573-7292 (Electronic) Linking ISSN: 13899600 NLM ISO Abbreviation: Fam Cancer Subsets: MEDLINE

Completing the genetic spectrum influencing coronary artery disease: from germline to somatic variation.

Authors: Patel AP Natarajan P

Source: Cardiovascular research [Cardiovasc Res] 2019 Apr 15; Vol. 115 (5), pp. 830-843.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review

Journal Info: Publisher: Oxford Journals Country of Publication: England NLM ID: 0077427 Publication Model: Print Cited Medium: Internet ISSN: 1755-3245 (Electronic) Linking ISSN: 00086363 NLM ISO Abbreviation: Cardiovasc Res Subsets: MEDLINE

New data shed light on Y-loss-related pathogenesis in myelodysplastic syndromes.

Authors: Ganster C Kämpfe D Jung K et al.

Source: Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2015 Dec; Vol. 54 (12), pp. 717-24. Date of Electronic Publication: 2015 Sep 23.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9007329 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-2264 (Electronic) Linking ISSN: 10452257 NLM ISO Abbreviation: Genes Chromosomes Cancer Subsets: MEDLINE

Locus-specific databases in cancer: what future in a post-genomic era? The TP53 LSDB paradigm.

Authors: Soussi T; Department of Oncology-Pathology Cancer Center Karolinska (CCK), Karolinska Institute, Stockholm, Sweden; Université Pierre et Marie Curie Paris 6, Paris, France.

Source: Human mutation [Hum Mutat] 2014 Jun; Vol. 35 (6), pp. 643-53. Date of Electronic Publication: 2014 Mar 05.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Republished: Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime.

Authors: Forsberg LA Absher D Dumanski JP

Source: Postgraduate medical journal [Postgrad Med J] 2013 Jul; Vol. 89 (1053), pp. 417-26.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0234135 Publication Model: Print Cited Medium: Internet ISSN: 1469-0756 (Electronic) Linking ISSN: 00325473 NLM ISO Abbreviation: Postgrad Med J Subsets: PubMed not MEDLINE

Systematic biases in DNA copy number originate from isolation procedures.

Authors: van Heesch S Mokry M Boskova V et al.

Source: Genome biology [Genome Biol] 2013 Apr 24; Vol. 14 (4), pp. R33. Date of Electronic Publication: 2013 Apr 24.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 100960660 Publication Model: Electronic Cited Medium: Internet ISSN: 1474-760X (Electronic) Linking ISSN: 14747596 NLM ISO Abbreviation: Genome Biol Subsets: MEDLINE