Genotype-phenotype correlations in patients with titin variants and cardiomyopathy from a Swiss cohort

被引:0
|
作者
Schaetti, N. [1 ]
Bonetti, N. [1 ]
Medeiros Domingo, A. [2 ]
Naegele, M. [1 ]
Grebmer, C. [3 ]
Vischer, A. [4 ]
Odening, K. [5 ]
Rieder, M. [5 ]
Manka, R. [1 ]
Tanner, F. [1 ]
Ruschitzka, F. [1 ]
Fokstuen, S. [1 ]
Duru, F. [1 ]
Saguner, A. [1 ]
机构
[1] Univ Hosp Zurich, Zurich, Switzerland
[2] Swiss DNAlysis, Dubendorf, Switzerland
[3] Lucerne Cantonal Hosp, Luzern, Switzerland
[4] Univ Hosp Basel, Dept Cardiol, Basel, Switzerland
[5] Bern Univ Hosp, Inselspital, Bern, Switzerland
关键词
D O I
10.1093/eurheartj/ehae666.2063
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页数:1
相关论文
共 50 条
  • [21] Genotype-phenotype correlations in Rett syndrome: the study of Russian cohort of patients
    Vorsanova, SG
    Ulas, VY
    Yurov, YB
    Giovanucci-Uzielli, ML
    Demidova, IA
    Gianti, L
    Villard, L
    Yurov, IY
    Beresheva, AK
    Novikov, PV
    ZHURNAL NEVROPATOLOGII I PSIKHIATRII IMENI S S KORSAKOVA, 2002, 102 (10): : 23 - 29
  • [22] Genotype-phenotype correlations
    Bauce, Barbara
    Nava, Andrea
    ARRHYTHMOGENIC RV CARDIOMYOPATHY/ DYSPLASIA: RECENT ADVANCES, 2007, : 21 - +
  • [23] Electrocardiographic heterogeneity of patients with variant transthyretin amyloid cardiomyopathy: Genotype-phenotype correlations
    Russo, Domitilla
    Cappelli, Francesco
    Di Bella, Gianluca
    Tini, Giacomo
    Porcari, Aldostefano
    Cipriani, Alberto
    Canepa, Marco
    Merlo, Marco
    Licordari, Roberto
    Vianello, Pier Filippo
    Zampieri, Mattia
    De Michieli, Laura
    Scirpa, Riccardo
    Perfetto, Federico
    Sinagra, Gianfranco
    Autore, Camillo
    Rapezzi, Claudio
    Musumeci, Maria Beatrice
    INTERNATIONAL JOURNAL OF CARDIOLOGY, 2023, 393
  • [24] Genotype-phenotype correlations: Assessing the influence of sequence variants on the clinical phenotype
    Silverman, LM
    Mahadevan, MS
    CLINICAL CHEMISTRY, 2005, 51 (01) : 8 - 8
  • [25] FLNC pathogenic variants in patients with various cardiomyopathies:prevalence and genotype-phenotype correlations
    Ader, F.
    De Groote, P.
    Reant, P.
    Dupin-Deguine, D.
    Rambaud, C.
    Khraiche, D.
    Pruny, J. F.
    Dramard, M. Mathieu
    Troadec, Y.
    Gouya, L.
    Jeunemaitre, X.
    Van Maldergem, L.
    Villard, E.
    Charron, P.
    Richard, P.
    EUROPEAN HEART JOURNAL, 2019, 40 : 703 - 703
  • [26] Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants
    Savostyanov, Kirill
    Pushkov, Alexander
    Zhanin, Ilya
    Mazanova, Natalya
    Pakhomov, Alexander
    Trufanova, Elena
    Alexeeva, Alina
    Sladkov, Dmitry
    Kuzenkova, Ludmila
    Asanov, Aliy
    Fisenko, Andrey
    GENES, 2023, 14 (11)
  • [27] Genotype-phenotype correlations in hypertrophic cardiomyopathy: Insights from an HCM Center of Excellence
    Ashraf, Muddasir
    Jan, M. Fuad
    Jahangir, Arshad
    Kroboth, Stacie
    Abood, Zaid
    Walczak, Sara
    Sanders, Heather
    Tajik, A. Jamil
    CURRENT PROBLEMS IN CARDIOLOGY, 2025, 50 (04)
  • [28] Frequency of HFE gene mutations and genotype-phenotype correlations in Swiss patients with hereditary haemochromatosis
    Himmelmann, A
    Bortoluzzi, L
    Jansen, S
    Fehr, J
    SCHWEIZERISCHE MEDIZINISCHE WOCHENSCHRIFT, 2000, 130 (31-32) : 1112 - 1119
  • [29] Genotype-phenotype correlations in patients treated with acenocoumarol
    Militaru, Florentina Claudia
    Vesa, Stefan Cristian
    Crisan, Sorin
    Militaru, Valentin
    Trifa, Adrian Pavel
    Buzoianu, Anca Dana
    REVISTA ROMANA DE MEDICINA DE LABORATOR, 2014, 22 (03): : 347 - 354
  • [30] Variations in genotype-phenotype correlations in phenylketonuria patients
    Santos, L. L.
    Fonseca, C. G.
    Starling, A. L. P.
    Januario, J. N.
    Aguiar, M. J. B.
    Peixoto, M. G. C. D.
    Carvalho, M. R. S.
    GENETICS AND MOLECULAR RESEARCH, 2010, 9 (01) : 1 - 8