Search Results - Marc Tischkowitz

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  1. 1
    Fanconi anaemia

    Fanconi anaemia by Marc Tischkowitz

    Published 2003
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  2. 2
    PALB2/FANCN: Recombining Cancer and Fanconi Anemia

    PALB2/FANCN: Recombining Cancer and Fanconi Anemia by Marc Tischkowitz, Bing Xia

    Published 2010
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  3. 3
    Fanconi anaemia and leukaemia – clinical and molecular aspects

    Fanconi anaemia and leukaemia – clinical and molecular aspects by Marc Tischkowitz, Inderjeet Dokal

    Published 2004
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  4. 4
    Clinical implications of germline mutations in breast cancer: TP53

    Clinical implications of germline mutations in breast cancer: TP53 by Katherine Schon, Marc Tischkowitz

    Published 2017
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  5. 5
    Predictive biomarkers for the efficacy of PARP inhibitors in ovarian cancer: an updated systematic review

    Predictive biomarkers for the efficacy of PARP inhibitors in ovarian cancer: an updated systematic review by Ying-Wen Wang, Isaac Allen, Gabriel Funingana, Marc Tischkowitz, Yvonne Walburga Joko-Fru

    Published 2025
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  6. 6
    Fanconi anaemia,<i>BRCA2</i>mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling

    Fanconi anaemia,<i>BRCA2</i>mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling by Stefan Meyer, Marc Tischkowitz, Kate Chandler, Alan Gillespie, Jillian M. Birch, D. Gareth Evans

    Published 2013
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  7. 7
    RAD51C germline mutations in breast and ovarian cancer patients

    RAD51C germline mutations in breast and ovarian cancer patients by Mohammad R. Akbari, Patricia N. Tonin, William D. Foulkes, Parviz Ghadirian, Marc Tischkowitz, Steven A. Narod

    Published 2010
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  8. 8
    Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group

    Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group by Amy Taylor, Angela F. Brady, Ian M. Frayling, Helen Hanson, Marc Tischkowitz, Clare Turnbull, Lucy Side

    Published 2018
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  9. 9
    p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer

    p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer by Chey Loveday, Katherine Josephs, Daniel Chubb, Adam C. Gunning, Louise Izatt, Marc Tischkowitz, Sian Ellard, Clare Turnbull

    Published 2018
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  10. 10
    Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model

    Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model by Andrew Lee, Alex Cunningham, Marc Tischkowitz, Jacques Simard, Paul D.P. Pharoah, Douglas F. Easton, Antonis C. Antoniou

    Published 2016
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  11. 11
    Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes

    Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes by Wei Wei, Katherine Schon, Greg Elgar, Andrea Orioli, M. Tanguy, Adam Giess, Marc Tischkowitz, Mark J. Caulfield, Patrick F. Chinnery

    Published 2022
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  12. 12
    Pathology update to the Manchester Scoring System based on testing in over 4000 families

    Pathology update to the Manchester Scoring System based on testing in over 4000 families by D. Gareth Evans, Elaine F. Harkness, Inga Plaskocinska, Andrew Wallace, Tara Clancy, Emma R. Woodward, Anthony Howell, Marc Tischkowitz, Fiona Lalloo

    Published 2017
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  13. 13
    Long-term outcomes of hysterectomy with bilateral salpingo-oophorectomy: a systematic review and meta-analysis

    Long-term outcomes of hysterectomy with bilateral salpingo-oophorectomy: a systematic review and meta-analysis by Hend Hassan, Isaac Allen, Eleni Sofianopoulou, Yvonne Walburga, Clare Turnbull, Diana Eccles, Marc Tischkowitz, Paul D.P. Pharoah, Antonis C. Antoniou

    Published 2023
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  14. 14
    UKCGG Consensus Group guidelines for the management of patients with constitutional <i>TP53</i> pathogenic variants

    UKCGG Consensus Group guidelines for the management of patients with constitutional <i>TP53</i> pathogenic variants by Helen Hanson, Angela F. Brady, Gillian Crawford, Rosalind A. Eeles, S. L. Gibson, Mette Jorgensen, Louise Izatt, Aslam Sohaib, Marc Tischkowitz, D. Gareth Evans

    Published 2020
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  15. 15
    Endoscopic surveillance with systematic random biopsy for the early diagnosis of hereditary diffuse gastric cancer: a prospective 16-year longitudinal cohort study

    Endoscopic surveillance with systematic random biopsy for the early diagnosis of hereditary diffuse gastric cancer: a prospective 16-year longitudinal cohort study by Colin Y. C. Lee, Adriaan Olivier, Judith Honing, Anne Lydon, Susan Richardson, Maria O’Donovan, Marc Tischkowitz, Rebecca C. Fitzgerald, Massimiliano di Pietro

    Published 2022
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  16. 16
    Use of immunohistochemical markers can refine prognosis in triple negative breast cancer

    Use of immunohistochemical markers can refine prognosis in triple negative breast cancer by Marc Tischkowitz, Jean‐Sébastien Brunet, Louis R. Bégin, David G. Huntsman, Maggie C.U. Cheang, Lars A. Akslen, Torsten O. Nielsen, William D. Foulkes

    Published 2007
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  17. 17
    Analysis of the Gene Coding for the BRCA2-Interacting Protein PALB2 in Familial and Sporadic Pancreatic Cancer

    Analysis of the Gene Coding for the BRCA2-Interacting Protein PALB2 in Familial and Sporadic Pancreatic Cancer by Marc Tischkowitz, Nelly Sabbaghian, Nancy Hamel, Ayelet Borgida, Chaim Rosner, Nassim Taherian, Archana Srivastava, Spring Holter, Heidi Rothenmund, Parviz Ghadirian, William D. Foulkes, Steven Gallinger

    Published 2009
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  18. 18
    Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

    Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) by Marc Tischkowitz, Judith Balmañà, William D. Foulkes, Paul A. James, Joanne Ngeow, Rita K. Schmutzler, Nicoleta Voian, Myra J. Wick, Douglas R. Stewart, Tuya Pal

    Published 2021
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  19. 19
    Cancer and Overgrowth Manifestations of PTEN Hamartoma Tumour Syndrome: Management Recommendations from the International PHTS Consensus Guidelines Working Group

    Cancer and Overgrowth Manifestations of PTEN Hamartoma Tumour Syndrome: Management Recommendations from the International PHTS Consensus Guidelines Working Group by Andrew Dhawan, Sarah Baitamouni, Darren Liu, Lamis Yehia, Kristin Anthony, Alicia McCarther, Marc Tischkowitz, Suzanne P. MacFarland, Joanne Ngeow, Nicoline Hoogerbrugge, Charis Eng

    Published 2025
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  20. 20
    Serum levels of mature microRNAs in DICER1-mutated pleuropulmonary blastoma

    Serum levels of mature microRNAs in DICER1-mutated pleuropulmonary blastoma by Matthew J. Murray, Shivani Bailey, Katie L. Raby, Harpreet K. Saini, Leanne de Kock, G.A. Amos Burke, William D. Foulkes, Anton J. Enright, Nicholas Coleman, Marc Tischkowitz

    Published 2014
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