Søgeresultater - Peter Ainsworth

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  1. 1
    Diagnostic single strand conformational polymorphism, (SSCP): a simplified non-radioisotopic method as applied to a Tay-Sachs B1 variant

    Diagnostic single strand conformational polymorphism, (SSCP): a simplified non-radioisotopic method as applied to a Tay-Sachs B1 variant af Peter Ainsworth, Linda Surh, Marion B. Coulter-Mackie

    Udgivet 1991
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  2. 2
    Allele-Specific Non-CpG Methylation of the Nf1 Gene during Early Mouse Development

    Allele-Specific Non-CpG Methylation of the Nf1 Gene during Early Mouse Development af Thomas R. Haines, David I. Rodenhiser, Peter Ainsworth

    Udgivet 2001
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  3. 3
    Constitutively Methylated Cp G Dinucleotides as Mutation Hot Spots in the Retinoblastoma Gene (RB1)

    Constitutively Methylated Cp G Dinucleotides as Mutation Hot Spots in the Retinoblastoma Gene (RB1) af Debora N Mancini, Shiva M. Singh, Peter Ainsworth, David I. Rodenhiser

    Udgivet 1997
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  4. 4
    Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array

    Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array af Laila C. Schenkel, Charles E. Schwartz, Cindy Skinner, David I. Rodenhiser, Peter Ainsworth, Guillaume Paré, Bekim Sadiković

    Udgivet 2016
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  5. 5
    Genomic DNA Methylation-Derived Algorithm Enables Accurate Detection of Malignant Prostate Tissues

    Genomic DNA Methylation-Derived Algorithm Enables Accurate Detection of Malignant Prostate Tissues af Erfan Aref‐Eshghi, Laila C. Schenkel, Peter Ainsworth, Hanxin Lin, David I. Rodenhiser, Jean‐Claude Cutz, Bekim Sadiković

    Udgivet 2018
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  6. 6
    The defining DNA methylation signature of Floating-Harbor Syndrome

    The defining DNA methylation signature of Floating-Harbor Syndrome af Rebecca L. Hood, Laila C. Schenkel, Sarah M. Nikkel, Peter Ainsworth, Guillaume Paré, Kym M. Boycott, Dennis E. Bulman, Bekim Sadiković

    Udgivet 2016
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  7. 7
    Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy

    Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy af Kristin D. Kernohan, Laila C. Schenkel, Lijia Huang, Amanda Smith, Guillaume Paré, Peter Ainsworth, Kym M. Boycott, Jodi Warman‐Chardon, Bekim Sadiković

    Udgivet 2016
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  8. 8
    The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance

    The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance af Erfan Aref‐Eshghi, Laila C. Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, David I. Rodenhiser, Charles E. Schwartz, Bekim Sadiković

    Udgivet 2017
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  9. 9
    Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C

    Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C af Laila C. Schenkel, Erfan Aref‐Eshghi, Cindy Skinner, Peter Ainsworth, Hanxin Lin, Guillaume Paré, David I. Rodenhiser, Charles E. Schwartz, Bekim Sadiković

    Udgivet 2018
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  10. 10
    Diabetes and breast cancer among women with <i>BRCA1</i> and <i>BRCA2</i> mutations

    Diabetes and breast cancer among women with <i>BRCA1</i> and <i>BRCA2</i> mutations af Louise Bordeleau, Lorraine L. Lipscombe, Jan Lubiński, Parviz Ghadirian, William D. Foulkes, Susan L. Neuhausen, Peter Ainsworth, Michaël Pollak, Ping Sun, Steven A. Narod

    Udgivet 2010
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  11. 11
    Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting Disorders

    Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting Disorders af Erfan Aref‐Eshghi, Laila C. Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, Victoria Mok Siu, David I. Rodenhiser, Charles E. Schwartz, Bekim Sadiković

    Udgivet 2017
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  12. 12
    Chemotherapy-Induced Amenorrhea in Patients With Breast Cancer With a <i>BRCA1</i> or <i>BRCA2</i> Mutation

    Chemotherapy-Induced Amenorrhea in Patients With Breast Cancer With a <i>BRCA1</i> or <i>BRCA2</i> Mutation af Adriana Valentini, Amy Finch, Jan Lubiński, Tomasz Byrski, Parviz Ghadirian, Charmaine Kim‐Sing, Henry T. Lynch, Peter Ainsworth, Susan L. Neuhausen, Ellen Greenblatt, Christian Singer, Ping Sun, Steven A. Narod

    Udgivet 2013
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  13. 13
    Changes in body weight and the risk of breast cancer in BRCA1 and BRCA2mutation carriers

    Changes in body weight and the risk of breast cancer in BRCA1 and BRCA2mutation carriers af Joanne Kotsopoulos, Olufunmilayo I. Olopade, Parviz Ghadirian, Jan Lubiński, Henry T. Lynch, Claudine Isaacs, Barbara Weber, Charmaine Kim‐Sing, Peter Ainsworth, William D. Foulkes, Andrea Eisen, Ping Sun, Steven A. Narod

    Udgivet 2005
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  14. 14
    Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis

    Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Ana... af Laila C. Schenkel, Jennifer Kerkhof, Alan Stuart, Jack Reilly, Barry Eng, Crystal Woodside, Alexander Levstik, Christopher J. Howlett, Anthony Rupar, Joan H.M. Knoll, Peter Ainsworth, John S. Waye, Bekim Sadiković

    Udgivet 2016
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  15. 15
    Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome

    Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome af Laila C. Schenkel, Kristin D. Kernohan, Arran McBride, Reina Ditta, Amanda Hodge, Peter Ainsworth, David I. Rodenhiser, Guillaume Paré, Nathalie G. Bérubé, Cindy Skinner, Kym M. Boycott, Charles E. Schwartz, Bekim Sadiković

    Udgivet 2017
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  16. 16
    Family History of Cancer and Cancer Risks in Women with BRCA1 or BRCA2 Mutations

    Family History of Cancer and Cancer Risks in Women with BRCA1 or BRCA2 Mutations af Kelly Metcalfe, Jan Lubiński, Henry T. Lynch, P Ghadirian, William D. Foulkes, Charmaine Kim‐Sing, Susan L. Neuhausen, Nadine Tung, Barry P. Rosen, Jacek Gronwald, Peter Ainsworth, Kevin Sweet, Andrea Eisen, Peng Sun, Steven A. Narod

    Udgivet 2010
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  17. 17
    Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels

    Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels af Jennifer Kerkhof, Laila C. Schenkel, Jack Reilly, Sheri McRobbie, Erfan Aref‐Eshghi, Alan Stuart, C. Anthony Rupar, Paul C. Adams, Robert A. Hegele, Hanxin Lin, David I. Rodenhiser, Joan H.M. Knoll, Peter Ainsworth, Bekim Sadiković

    Udgivet 2017
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  18. 18
    Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes

    Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes af Erfan Aref‐Eshghi, David I. Rodenhiser, Laila C. Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, Rebecca L. Hood, Dennis E. Bulman, Kristin D. Kernohan, Kym M. Boycott, Philippe M. Campeau, Charles E. Schwartz, Bekim Sadiković

    Udgivet 2018
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  19. 19
    Coffee consumption and breast cancer risk among <i>BRCA1</i> and <i>BRCA2</i> mutation carriers

    Coffee consumption and breast cancer risk among <i>BRCA1</i> and <i>BRCA2</i> mutation carriers af André Nkondjock, Parviz Ghadirian, Joanne Kotsopoulos, Jan Lubiński, Henry T. Lynch, Charmaine Kim‐Sing, Douglas E. Horsman, Barry P. Rosen, Claudine Isaacs, Barbara Weber, William D. Foulkes, Peter Ainsworth, Nadine Tung, Andrea Eisen, Eitan Friedman, Charis Eng, Ping Sun, Steven A. Narod

    Udgivet 2005
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  20. 20
    International trends in the uptake of cancer risk reduction strategies in women with a BRCA1 or BRCA2 mutation

    International trends in the uptake of cancer risk reduction strategies in women with a BRCA1 or BRCA2 mutation af Kelly Metcalfe, Andrea Eisen, Leigha Senter, Susan Randall Armel, Louise Bordeleau, Wendy S. Meschino, Tuya Pal, Henry T. Lynch, Nadine Tung, Ava Kwong, Peter Ainsworth, Beth Y. Karlan, Pål Møller, Charis Eng, Jeffrey N. Weitzel, Ping Sun, Jan Lubiński, Steven A. Narod

    Udgivet 2019
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