APPLICATION OF ACMG GUIDELINES FOR CLASSIFICATION OF VARIANTS DETECTED IN A COHORT OF PATIENTS WITH CLINICALLY SUSPECTED FAMILIAL HYPERCHOLESTEROLEMIA (FH): IMPLICATION FOR THE DIAGNOSIS.

被引：0
|
作者：
Minicocci, I. [1 ]
Di Costanzo, A. [1 ]
D'Erasmo, L. [1 ]
Covino, S. [1 ]
Bini, S. [1 ]
Montali, A. [1 ]
Arca, M. [1 ]
机构：
[1] Univ Rome, Translat & Precis Med, Rome, Italy
来源：
ATHEROSCLEROSIS | 2021年 / 331卷
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
P507
引用
收藏
页码：E217 / E217
页数：1
相关论文
共 6 条
  • [1] Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis
    Chora, Joana Rita
    Medeiros, Ana Margarida
    Alves, Ana Catarina
    Bourbon, Mafalda
    GENETICS IN MEDICINE, 2018, 20 (06) : 591 - 598
  • [2] ACMG classification of variants in LDLR gene found in patients with a clinical diagnosis of Familial Hypercholesterolaemia
    Chora, J. R.
    Alves, A.
    Medeiros, A. M.
    Bourbon, M.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 655 - 655
  • [3] SYSTEMATIC REVIEW OF LDLR MUTATIONS ASSOCIATED TO FAMILIAL HYPERCHOLESTEROLAEMIA - EVIDENCE OF FUNCTIONAL STUDIES AND APPLICATION OF ACMG GUIDELINES FOR FH DIAGNOSIS
    Chora, Joana Rita
    Alves, Ana Catarina
    Medeiros, Ana Margarida
    Bourbon, Mafalda
    ATHEROSCLEROSIS, 2017, 263 : E221 - E221
  • [4] FUNCTIONAL CHARACTERIZATION OF UNCERTAIN SIGNIFICANCE VARIANTS (VUS) IN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA (FH) THROUGH THE APPLICATION OF FLOW CYTOMETRY
    Covino, Stella
    Rossi, Alessandra
    Grimaldos, Alessandra Pinzon
    Minicocci, Ilenia
    Bini, Simone
    Tramontano, Daniele
    D'Erasmo, Laura
    Di Costanzo, Alessia
    Piconese, Silvia
    Arca, Marcello
    ATHEROSCLEROSIS, 2024, 395
  • [5] IMPLICATION OF ESC/EAS 2019 DYSLIPIDEMIA GUIDELINES FOR PCSK9 INHIBITION IN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA: AN ANALYSIS FROM THE HELLAS-FH REGISTRY
    Rizos, C.
    Skoumas, I.
    Skalides, E.
    Rallidis, L.
    Tziomalos, K.
    Sfikas, G.
    Garoufi, A.
    Anagnostis, P.
    Kolovou, G.
    Kotsis, V.
    Doumas, M.
    Bilianou, E.
    Koutagiar, I.
    Zacharis, E.
    Kiouri, E.
    Bantouvakis, G.
    Agapakis, D.
    Attilakos, A.
    Antza, C.
    Liberopoulos, E. N.
    ATHEROSCLEROSIS, 2021, 331 : E51 - E51
  • [6] Twelve Variants Polygenic Score for Low-Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial Hypercholesterolemia With or Without Causative Mutations
    Olmastroni, Elena
    Gazzotti, Marta
    Arca, Marcello
    Averna, Maurizio
    Pirillo, Angela
    Catapano, Alberico Luigi
    Casula, Manuela
    JOURNAL OF THE AMERICAN HEART ASSOCIATION, 2022, 11 (07):
1