檢索結果 - Adam D. McIntyre

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  1. 1
    A novel MC4R mutation associated with childhood-onset obesity: A case report

    A novel MC4R mutation associated with childhood-onset obesity: A case report 由 Manpreet Doulla, Adam D. McIntyre, Robert A. Hegele, Patricia Gallego

    出版 2014
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  2. 2
    Lipoprotein Lipase: Structure, Function, and Genetic Variation

    Lipoprotein Lipase: Structure, Function, and Genetic Variation 由 Shehan D. Perera, Jian Wang, Adam D. McIntyre, Robert A. Hegele

    出版 2025
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  3. 3
    Comparison of patients with familial chylomicronemia syndrome and multifactorial chylomicronemia syndrome

    Comparison of patients with familial chylomicronemia syndrome and multifactorial chylomicronemia syndrome 由 Catherine M. Spagnuolo, Jian Wang, Adam D. McIntyre, Brooke A. Kennedy, Robert A. Hegele

    出版 2024
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  4. 4
    Use of next-generation sequencing to detect LDLR gene copy number variation in familial hypercholesterolemia

    Use of next-generation sequencing to detect LDLR gene copy number variation in familial hypercholesterolemia 由 Michael A. Iacocca, Jian Wang, Jacqueline S. Dron, John F. Robinson, Adam D. McIntyre, Henian Cao, Robert A. Hegele

    出版 2017
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  5. 5
    High Frequency of Variants of Candidate Genes in Black Africans with Low Renin-Resistant Hypertension

    High Frequency of Variants of Candidate Genes in Black Africans with Low Renin-Resistant Hypertension 由 Erika Jones, J. David Spence, Adam D. McIntyre, Justus Nondi, Kennedy Gogo, Adeseye A. Akintunde, Daniel G. Hackam, Brian Rayner

    出版 2016
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  6. 6
    Six years’ experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias

    Six years’ experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias 由 Jacqueline S. Dron, Jian Wang, Adam D. McIntyre, Michael A. Iacocca, John F. Robinson, Matthew R. Ban, Henian Cao, Robert A. Hegele

    出版 2020
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  7. 7
    Congenital sucrase–isomaltase deficiency: identification of a common Inuit founder mutation

    Congenital sucrase–isomaltase deficiency: identification of a common Inuit founder mutation 由 Julien L. Marcadier, Margaret Boland, C. Ronald Scott, Kheirie Issa, Zaining Wu, Adam D. McIntyre, Robert A. Hegele, Michael T. Geraghty, Matthew A. Lines

    出版 2014
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  8. 8
    G-Protein Estrogen Receptor as a Regulator of Low-Density Lipoprotein Cholesterol Metabolism

    G-Protein Estrogen Receptor as a Regulator of Low-Density Lipoprotein Cholesterol Metabolism 由 Yasin Hussain, Qingming Ding, Philip W. Connelly, Jason Brunt, Matthew R. Ban, Adam D. McIntyre, Murray W. Huff, Robert Gros, Robert A. Hegele, Ross D. Feldman

    出版 2014
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  9. 9
    LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias

    LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias 由 Christopher T. Johansen, Joseph B. Dubé, Melissa N. Loyzer, Austin MacDonald, David E. Carter, Adam D. McIntyre, Henian Cao, Jian Wang, John F. Robinson, Robert A. Hegele

    出版 2014
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  10. 10
    Severe hypertriglyceridemia is primarily polygenic

    Severe hypertriglyceridemia is primarily polygenic 由 Jacqueline S. Dron, Jian Wang, Henian Cao, Adam D. McIntyre, Michael A. Iacocca, Jyler Menard, Irina Movsesyan, Mary J. Malloy, Clive R. Pullinger, John P. Kane, Robert A. Hegele

    出版 2018
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  11. 11
    Whole-Gene Duplication of PCSK9 as a Novel Genetic Mechanism for Severe Familial Hypercholesterolemia

    Whole-Gene Duplication of PCSK9 as a Novel Genetic Mechanism for Severe Familial Hypercholesterolemia 由 Michael A. Iacocca, Jian Wang, Samantha K. Sarkar, Jacqueline S. Dron, Thomas A. Lagace, Adam D. McIntyre, Paulina Lau, John F. Robinson, Ping Yang, Joan H.M. Knoll, Henian Cao, Ruth McPherson, Robert A. Hegele

    出版 2018
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  12. 12
    A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia

    A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia 由 Mugdha Joshi, Jacqueline Eagan, Nirav K. Desai, Stephanie A. Newton, Meghan C. Towne, Nicholas S. Marinakis, Kristyn M. Esteves, Sarah D. de Ferranti, Michael J. Bennett, Adam D. McIntyre, Alan H. Beggs, Gerard T. Berry, Pankaj B. Agrawal

    出版 2014
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  13. 13
    Polygenic determinants in extremes of high-density lipoprotein cholesterol

    Polygenic determinants in extremes of high-density lipoprotein cholesterol 由 Jacqueline S. Dron, Jian Wang, Cécile Low‐Kam, Sumeet A. Khetarpal, John F. Robinson, Adam D. McIntyre, Matthew R. Ban, Henian Cao, David Rhainds, Marie‐Pierre Dubé, Daniel J. Rader, Guillaume Lettre, Jean‐Claude Tardif, Robert A. Hegele

    出版 2017
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  14. 14
    Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically

    Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically 由 Jian Wang, Jacqueline S. Dron, Matthew R. Ban, John F. Robinson, Adam D. McIntyre, Maher Alazzam, Pei Zhao, Allison A. Dilliott, Henian Cao, Murray W. Huff, David Rhainds, Cécile Low‐Kam, Marie‐Pierre Dubé, Guillaume Lettre, Jean‐Claude Tardif, Robert A. Hegele

    出版 2016
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  15. 15
    Excess of Rare Variants in Non–Genome-Wide Association Study Candidate Genes in Patients With Hypertriglyceridemia

    Excess of Rare Variants in Non–Genome-Wide Association Study Candidate Genes in Patients With Hypertriglyceridemia 由 Christopher T. Johansen, Jian Wang, Adam D. McIntyre, Rebecca A. Martins, Matthew R. Ban, Matthew B. Lanktree, Murray W. Huff, Miklós Péterfy, Margarete Mehrabian, Aldons J. Lusis, Sekar Kathiresan, Sonia S. Anand, Salim Yusuf, Ann–Hwee Lee, Laurie H. Glimcher, Henian Cao, Robert A. Hegele

    出版 2011
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  16. 16
    Transient Infantile Hypertriglyceridemia, Fatty Liver, and Hepatic Fibrosis Caused by Mutated GPD1, Encoding Glycerol-3-Phosphate Dehydrogenase 1

    Transient Infantile Hypertriglyceridemia, Fatty Liver, and Hepatic Fibrosis Caused by Mutated GPD1, Encoding Glycerol-3-Phosphate Dehydrogenase 1 由 Lina Basel‐Vanagaite, Noam Zevit, Adi Har Zahav, Liang Guo, Saj Parathath, Metsada Pasmanik‐Chor, Adam D. McIntyre, Jian Wang, Adi Albin‐Kaplanski, Corina Hartman, Daphna Marom, Avraham Zeharia, Abir Badir, Oded Shoerman, Amos J. Simon, Gideon Rechavi, Mordechai Shohat, Robert A. Hegele, Edward A. Fisher, Raanan Shamir

    出版 2012
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  17. 17
    An Increased Burden of Common and Rare Lipid-Associated Risk Alleles Contributes to the Phenotypic Spectrum of Hypertriglyceridemia

    An Increased Burden of Common and Rare Lipid-Associated Risk Alleles Contributes to the Phenotypic Spectrum of Hypertriglyceridemia 由 Christopher T. Johansen, Jian Wang, Matthew B. Lanktree, Adam D. McIntyre, Matthew R. Ban, Rebecca A. Martins, Brooke A. Kennedy, Reina G. Hassell, Maartje E. Visser, Stephen M. Schwartz, Benjamin F. Voight, Roberto Elosúa, Veikko Salomaa, Christopher J. O’Donnell, Geesje M. Dallinga‐Thie, Sonia S. Anand, Salim Yusuf, Murray W. Huff, Sekar Kathiresan, Henian Cao, Robert A. Hegele

    出版 2011
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  18. 18
    Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia

    Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia 由 Christopher T. Johansen, Jian Wang, Matthew B. Lanktree, Henian Cao, Adam D. McIntyre, Matthew R. Ban, Rebecca A. Martins, Brooke A. Kennedy, Reina G. Hassell, Maartje E. Visser, Stephen M. Schwartz, Benjamin F. Voight, Roberto Elosúa, Veikko Salomaa, Christopher J. O’Donnell, Geesje M. Dallinga‐Thie, Sonia S. Anand, Salim Yusuf, Murray W. Huff, Sekar Kathiresan, Robert A. Hegele

    出版 2010
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  19. 19
    Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

    Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease 由 Allison A. Dilliott, Sali M.K. Farhan, Mahdi Ghani, Christine Sato, Eric Liang, Ming Zhang, Adam D. McIntyre, Henian Cao, Lemuel Racacho, John F. Robinson, Michael J. Strong, Mario Masellis, Dennis E. Bulman, Ekaterina Rogaeva, Anthony E. Lang, Maria Carmela Tartaglia, Elizabeth Finger, Lorne Zinman, John Turnbull, Morris Freedman, Rick Swartz, Sandra E. Black, Robert A. Hegele

    出版 2018
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  20. 20
    Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function

    Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function 由 Sebastian Zeißig, Stephanie K. Dougan, Duarte C. Barral, Yvonne Junker, Zhangguo Chen, Arthur Kaser, Madelyn Ho, Hannah Mandel, Adam D. McIntyre, Susan Kennedy, Gavin F. Painter, Natacha Veerapen, Gurdyal S. Besra, Vincenzo Cerundolo, Simon Yue, Sarah Beladi, Samuel M. Behar, Xiuxu Chen, Jenny E. Gumperz, Karine Breckpot, Anna Raper, Amanda Baer, Mark A. Exley, Robert A. Hegele, Marina Cuchel, Daniel J. Rader, Nicholas O. Davidson, Richard S. Blumberg

    出版 2010
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