检索结果 - Douglas R. Stewart

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  1. 1
    The prevalence of <i>DICER1</i> pathogenic variation in population databases

    The prevalence of <i>DICER1</i> pathogenic variation in population databases 由 Jung Kim, Amanda Field, Kris Ann P. Schultz, D. Ashley Hill, Douglas R. Stewart

    出版 2017
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  2. 2
    Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

    Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) 由 Douglas R. Stewart, Bruce R. Korf, Katherine L. Nathanson, David A. Stevenson, Kaleb Yohay

    出版 2018
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  3. 3
    Malignant Peripheral Nerve Sheath Tumors State of the Science: Leveraging Clinical and Biological Insights into Effective Therapies

    Malignant Peripheral Nerve Sheath Tumors State of the Science: Leveraging Clinical and Biological Insights into Effective Therapies 由 AeRang Kim, Douglas R. Stewart, Karlyne M. Reilly, David Viskochil, Markku Miettinen, Brigitte C. Widemann

    出版 2017
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  4. 4
    DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma

    DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma 由 Iván González, Douglas R. Stewart, Kris Ann P. Schultz, Amanda Field, D. Ashley Hill, Louis P. Dehner

    出版 2021
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  5. 5
    Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG)

    Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG) 由 Marilyn M. Li, Elizabeth Chao, Edward D. Esplin, David T. Miller, Katherine L. Nathanson, Sharon E. Plon, Maren T. Scheuner, Douglas R. Stewart

    出版 2020
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  6. 6
    Mosaic chromosome Y loss and testicular germ cell tumor risk

    Mosaic chromosome Y loss and testicular germ cell tumor risk 由 Mitchell J. Machiela, Casey Dagnall, Anand Pathak, Jennifer T. Loud, Stephen J. Chanock, Mark H. Greene, Katherine A. McGlynn, Douglas R. Stewart

    出版 2017
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  7. 7
    Increase in power by obtaining 10 or more controls per case when type-1 error is small in large-scale association studies

    Increase in power by obtaining 10 or more controls per case when type-1 error is small in large-scale association studies 由 Hormuzd A. Katki, Sonja I. Berndt, Mitchell J. Machiela, Douglas R. Stewart, Montserrat García‐Closas, Jung Kim, Jianxin Shi, Kai Yu, Nathaniel Rothman

    出版 2023
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  8. 8
    Fine Mapping of Genetic Susceptibility to Polycystic Ovary Syndrome on Chromosome 19p13.2 and Tests for Regulatory Activity

    Fine Mapping of Genetic Susceptibility to Polycystic Ovary Syndrome on Chromosome 19p13.2 and Tests for Regulatory Activity 由 Douglas R. Stewart, Beth A. Dombroski, Margrit Urbanek, Wendy Ankener, Kathryn G. Ewens, Jennifer R. Wood, Richard S. Legro, Jerome F. Strauss, Andrea Dunaif, Richard S. Spielman

    出版 2006
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  9. 9
    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) 由 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

    出版 2021
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  10. 10
    Diagnosis, management, and complications of glomus tumours of the digits in neurofibromatosis type 1

    Diagnosis, management, and complications of glomus tumours of the digits in neurofibromatosis type 1 由 Douglas R. Stewart, Jennifer L. Sloan, L Yao, Andrew J. Mannes, A C Moshyedi, Chyi‐Chia Richard Lee, Raf Sciot, Luc De Smet, Viktor Mautner, Eric Legius

    出版 2010
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  11. 11
    DICER1-Pleuropulmonary Blastoma Familial Tumor Predisposition Syndrome

    DICER1-Pleuropulmonary Blastoma Familial Tumor Predisposition Syndrome 由 Kris Ann P. Schultz, Jiandong Yang, Leslie Doros, Gretchen M. Williams, Anne K. Harris, Douglas R. Stewart, Yoav H. Messinger, Amanda Field, Louis P. Dehner, D. Ashley Hill

    出版 2014
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  12. 12
    Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder

    Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder 由 Douglas R. Stewart, Yoav H. Messinger, Gretchen M. Williams, Jiandong Yang, Amanda Field, Kris Ann P. Schultz, Laura A. Harney, Leslie Doros, Louis P. Dehner, D. Ashley Hill

    出版 2014
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  13. 13
    FTO and MC4R Gene Variants Are Associated with Obesity in Polycystic Ovary Syndrome

    FTO and MC4R Gene Variants Are Associated with Obesity in Polycystic Ovary Syndrome 由 Kathryn G. Ewens, Michelle R. Jones, Wendy Ankener, Douglas R. Stewart, Margrit Urbanek, Andrea Dunaif, Richard S. Legro, Angela K. Chua, Ricardo Azziz, Richard S. Spielman, Mark O. Goodarzi, Jerome F. Strauss

    出版 2011
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  14. 14
    Adult-Onset Cancer Predisposition Syndromes in Children and Adolescents—To Test or not to Test?

    Adult-Onset Cancer Predisposition Syndromes in Children and Adolescents—To Test or not to Test? 由 Christian P. Kratz, Philip J. Lupo, Kristin Zelley, Jaclyn Schienda, Kim E. Nichols, Douglas R. Stewart, David Malkin, Garrett M. Brodeur, Kara N. Maxwell, Sharon E. Plon, Michael F. Walsh

    出版 2024
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  15. 15
    Pleuropulmonary blastoma: A report on 350 central pathology–confirmed pleuropulmonary blastoma cases by the <scp>I</scp>nternational <scp>P</scp>leuropulmonary <scp>B</scp>lastoma <scp>R</scp>egistry

    Pleuropulmonary blastoma: A report on 350 central pathology–confirmed pleuropulmonary blastoma cases by the <scp>I</scp>nternational <scp>P</scp>leuropulmonary <scp>B</scp>lastoma... 由 Yoav H. Messinger, Douglas R. Stewart, John R. Priest, Gretchen M. Williams, Anne K. Harris, Kris Ann P. Schultz, Jiandong Yang, Leslie Doros, Philip S. Rosenberg, D. Ashley Hill, Louis P. Dehner

    出版 2014
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  16. 16
    Evidence of polyclonality in neurofibromatosis type 2–associated multilobulated vestibular schwannomas

    Evidence of polyclonality in neurofibromatosis type 2–associated multilobulated vestibular schwannomas 由 Ramita Dewan, Alex Pemov, H. Jeffrey Kim, Keaton Morgan, Raul A. Vasquez, Prashant Chittiboina, Xiang Wang, Settara C. Chandrasekharappa, Abhik Ray‐Chaudhury, John A. Butman, Douglas R. Stewart, Ashok R. Asthagiri

    出版 2014
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  17. 17
    Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1—a consensus overview

    Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1—a consensu... 由 Markku Miettinen, Cristina R. Antonescu, Christopher D.�M. Fletcher, AeRang Kim, Alexander J. Lazar, Martha Quezado, Karlyne M. Reilly, Anat Stemmer‐Rachamimov, Douglas R. Stewart, David Viskochil, Brigitte C. Widemann, Arie Perry

    出版 2017
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  18. 18
    Neuroblastoma Predisposition and Surveillance—An Update from the 2023 AACR Childhood Cancer Predisposition Workshop

    Neuroblastoma Predisposition and Surveillance—An Update from the 2023 AACR Childhood Cancer Predisposition Workshop 由 Junne Kamihara, Lisa Diller, William D. Foulkes, Orli Michaeli, Yoshiko Nakano, Kristian W. Pajtler, Melissa R. Perrino, Sarah Scollon, Douglas R. Stewart, Stephan D. Voss, Rosanna Weksberg, Jordan R. Hansford, Garrett M. Brodeur

    出版 2024
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  19. 19
    AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification

    AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification 由 Jung Kim, Ammar S. Naqvi, Ryan J Corbett, Rebecca Kaufman, Zalman Vaksman, Miguel Brown, Daniel P. Miller, Saksham Phul, Zhuangzhuang Geng, Phillip B. Storm, Adam Resnick, Douglas R. Stewart, Jo Lynne Rokita, Sharon J. Diskin

    出版 2024
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  20. 20
    Family-Based Analysis of Candidate Genes for Polycystic Ovary Syndrome

    Family-Based Analysis of Candidate Genes for Polycystic Ovary Syndrome 由 Kathryn G. Ewens, Douglas R. Stewart, Wendy Ankener, Margrit Urbanek, Jan M. McAllister, Chen Chen, K. Maravet Baig, Stephen C. J. Parker, Elliot H. Margulies, Richard S. Legro, Andrea Dunaif, Jerome F. Strauss, Richard S. Spielman

    出版 2010
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