Molecular assessment of variants in inherited lipodystrophy genes: prevalence and clinical impact in a large clinical care cohort

被引:0
|
作者
Gonzaga-Jauregui, C. [1 ]
Altarejos, J. [2 ]
Staples, J. [1 ]
Teslovich, T. M. [1 ]
Baras, A. [1 ]
Gromada, J. [2 ]
Gottesman, O. [1 ]
Dewey, F. [1 ]
机构
[1] Regeneron Pharmaceut Inc, Regeneron Genet Ctr, 777 Old Saw Mill River Rd, Tarrytown, NY 10591 USA
[2] Regeneron Pharmaceut Inc, 777 Old Saw Mill River Rd, Tarrytown, NY 10591 USA
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
P06.28D
引用
收藏
页码:178 / 179
页数:2
相关论文
共 50 条
  • [1] Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort
    Gonzaga-Jauregui, Claudia
    Ge, Wenzhen
    Staples, Jeffrey
    Van Hout, Cristopher
    Yadav, Ashish
    Colonie, Ryan
    Leader, Joseph B.
    Kirchner, H. Lester
    Murray, Michael F.
    Reid, Jeffrey G.
    Carey, David J.
    Overton, John D.
    Shuldiner, Alan R.
    Gottesman, Omri
    Gao, Steve
    Gromada, Jesper
    Baras, Aris
    Altarejos, Judith
    DIABETES, 2020, 69 (02) : 249 - 258
  • [2] The clinical impact of the Human Genome Project: inherited variants in cancer care
    Hopkinson, I
    Mackay, J
    ANNALS OF ONCOLOGY, 2002, 13 : 105 - 107
  • [3] Prevalence and clinical outcomes of lipodystrophy: A US national cohort
    Yang, Seonkyeong
    Knox, Caitlin
    PHARMACOEPIDEMIOLOGY AND DRUG SAFETY, 2022, 31 : 317 - 318
  • [4] Clinical Impact of Inherited and Acquired Genetic Variants in Mastocytosis
    Nedoszytko, Boguslaw
    Arock, Michel
    Lyons, Jonathan J.
    Bachelot, Guillaume
    Schwartz, Lawrence B.
    Reiter, Andreas
    Jawhar, Mohamad
    Schwaab, Juliana
    Lange, Magdalena
    Greiner, Georg
    Hoermann, Gregor
    Niedoszytko, Marek
    Metcalfe, Dean D.
    Valent, Peter
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2021, 22 (01) : 1 - 18
  • [5] Clinical Spectrum and Molecular Characteristics in a Large Cohort Pediatric Patients with Inherited Retinal Diseases
    Gong, Xiaoming
    Hertle, Richard W.
    Flickinger, Aaron
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2024, 65 (07)
  • [6] Prevalence of pathogenic variants in non-BRCA genes and their impact on clinical practice in Argentina.
    Martin, Claudia Alejandra
    Miretti, Virginia
    Maldonado, Emilia
    Canonero, Ivana
    Pabletich, Florencia
    Ceschin, Danilo
    Andreoli, Veronica
    JOURNAL OF CLINICAL ONCOLOGY, 2023, 41 (16)
  • [7] Variants in Genes Associated with Hearing Loss in Children: Prevalence in a Large Canadian Cohort
    Wener, Emily R.
    Mclennan, Jacob D.
    Papsin, Blake C.
    Cushing, Sharon L.
    Stavropoulos, Dimitri James
    Mendoza-Londono, Roberto
    Quercia, Nada
    Gordon, Karen A.
    LARYNGOSCOPE, 2024, 134 (08): : 3832 - 3838
  • [8] Clinical and molecular characterization of a large MPAN cohort
    Sparber, P.
    Krylova, T.
    Repina, S.
    Demina, N.
    Rudenskaya, G.
    Sharkova, I.
    Sharkov, A.
    Kadishev, V.
    Kanivets, I.
    Korostelev, S.
    Pomerantseva, E.
    Ivanova, M.
    Mikhailova, S.
    Zaharova, E.
    Filatova, A.
    Skoblov, M.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 403 - 404
  • [9] Pathogenic Variants in Adult-Onset Cancer Predisposition Genes in Pediatric Cancer: Prevalence and Impact on Tumor Molecular Features and Clinical Management
    McGee, Rose B.
    Oak, Ninad
    Harrison, Lynn
    Xu, Ke
    Nuccio, Regina
    Blake, Alise K.
    Mostafavi, Roya
    Lewis, Sara
    Taylor, Leslie M.
    Kubal, Manish
    Ouma, Annastasia
    Hines-Dowell, Stacy J.
    Cheng, Cheng
    V. Furtado, Larissa
    Nichols, Kim E.
    CLINICAL CANCER RESEARCH, 2023, 29 (07) : 1243 - 1251
  • [10] Evaluation of Clinical Practices Related to Variants of Uncertain Significance Results in Inherited Cardiac Arrhythmia and Inherited Cardiomyopathy Genes
    Muller, Reka D.
    McDonald, Thomas
    Pope, Kathleen
    Cragun, Deborah
    CIRCULATION-GENOMIC AND PRECISION MEDICINE, 2020, 13 (04): : E002789