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
  • [31] Genotype-Phenotype Correlations in Patients with Hereditary Angioedema
    Maia, Luana S. M.
    Leme Ferriani, Mariana Paes
    Nunes, Fernanda Leonel
    Ferraro, Maria Fernanda
    Dias, Marina Mendonca
    Serpa, Faradiba Sarquis
    Motta, Antonio Abilio
    Valle, Solange Rodrigues
    Silva, Wilson Araujo, Jr.
    Aragon, Davi Casale
    Sarti, Willy
    Arruda, Luisa Karla P.
    Moreno, Adriana S.
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2017, 139 (02) : AB383 - AB383
  • [32] Alternating Hemiplegia of Childhood: Genotype-Phenotype Correlations in a Cohort of 39 Italian Patients
    Cordani, Ramona
    Stagnaro, Michela
    Pisciotta, Livia
    Tiziano, Francesco Danilo
    Calevo, Maria Grazia
    Nobili, Lino
    De Grandis, Elisa
    FRONTIERS IN NEUROLOGY, 2021, 12
  • [33] Genetic Basis and Genotype-Phenotype Correlations in Han Chinese Patients with Idiopathic Dilated Cardiomyopathy
    Zhang, Xin-Lin
    Xie, Jun
    Lan, Rong-Fang
    Kang, Li-Na
    Wang, Lian
    Xu, Wei
    Xu, Biao
    SCIENTIFIC REPORTS, 2020, 10 (01)
  • [34] Genotype-phenotype correlations in retinoblastoma
    Le Gall, Jessica
    Mahmoudi, Meriam
    Mezghani, Sarah
    Bouchoucha, Yassine
    Matet, Alexandre
    Cardoen, Liesbeth
    Ghazelian, Hrant
    Carriere, Jennifer
    Fort, Nicolas
    Gauthier-Villars, Marion
    Stoppa-Lyonnet, Dominique
    Hua, Clement
    Radvanyi, Francois
    Freneaux, Paul
    Brisse, Herve
    Cassoux, Nathalie
    Doz, Francois
    Lisa, Golmard
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 588 - 589
  • [35] Genotype-phenotype correlations in FSHD
    Nikolay Zernov
    Mikhail Skoblov
    BMC Medical Genomics, 12
  • [36] Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants
    Malerba, Federica
    Alberini, Giulio
    Balagura, Ganna
    Marchese, Francesca
    Amadori, Elisabetta
    Riva, Antonella
    Vari, Maria Stella
    Gennaro, Elena
    Madia, Francesca
    Salpietro, Vincenzo
    Angriman, Marco
    Giordano, Lucio
    Accorsi, Patrizia
    Trivisano, Marina
    Specchio, Nicola
    Russo, Angelo
    Gobbi, Giuseppe
    Raviglione, Federico
    Pisano, Tiziana
    Marini, Carla
    Mancardi, Maria M.
    Nobili, Lino
    Freri, Elena
    Castellotti, Barbara
    Capovilla, Giuseppe
    Coppola, Antonietta
    Verrotti, Alberto
    Martelli, Paola
    Miceli, Francesco
    Maragliano, Luca
    Benfenati, Fabio
    Cilio, Maria R.
    Johannesen, Kathrine M.
    Moller, Rikke S.
    Ceulemans, Berten
    Minetti, Carlo
    Weckhuysen, Sarah
    Zara, Federico
    Taglialatela, Maurizio
    Striano, Pasquale
    NEUROLOGY-GENETICS, 2020, 6 (06)
  • [37] Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants
    Amadori, Elisabetta
    Malerba, Federica
    Alberini, Giulio
    Balagura, Ganna
    Marchese, Francesca
    Riva, Antonella
    Vari, Maria Stella
    Gennaro, Elena
    Madia, Francesca
    Salpietro, Vincenzo
    Angriman, Marco
    Giordano, Lucio
    Accorsi, Patrizia
    Trivisano, Marina
    Specchio, Nicola
    Russo, Angelo
    Gobbi, Giuseppe
    Raviglione, Federico
    Pisano, Tiziana
    Marini, Carla
    Mancardi, Maria Margherita
    Nobili, Lino
    Freri, Elena
    Castellotti, Barbara
    Capovilla, Giuseppe
    Coppola, Antonietta
    Verrotti, Alberto
    Martelli, Paola
    Miceli, Francesco
    Maragliano, Luca
    Benfenati, Fabio
    Cilio, Maria Roberta
    Johannesen, Katrine Marie
    Moeller, Rikke Steensbjerre
    Ceulemans, Berten
    Minetti, Carlo
    Weckhuysen, Sarah
    Zara, Federico
    Taglialatela, Maurizio
    Striano, Pasquale
    EPILEPSIA, 2021, 62 : 219 - 220
  • [38] GENOTYPE-PHENOTYPE CORRELATIONS IN PHENYLKETONURIA
    TREFZ, FK
    BURGARD, P
    KONIG, T
    GOEBELSCHREINER, B
    LICHTERKONECKI, U
    KONECKI, D
    SCHMIDT, E
    SCHMIDT, H
    BICKEL, H
    CLINICA CHIMICA ACTA, 1993, 217 (01) : 15 - 21
  • [39] Genotype-phenotype correlations in MCADD
    Arnold, G. L.
    Erbe, R.
    Verdaasdonk, K.
    Galvin-Parton, P. A.
    Kronn, D. F.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2006, 29 : 34 - 34
  • [40] Genotype-phenotype correlations in collagenopathies
    Madej-Pilarczyk, Agnieszka
    Piekutowska-Abramczuk, Dorota
    Wicher, Dorota
    Ciara, Elzbieta
    Jurkiewicz, Dorota
    Jedrzejowska, Maria
    Chalupczynska, Beata
    Cieslikowska, Agata
    Pietrasik, Justyna
    Iwanicka-Pronicka, Katarzyna
    Pelc, Magdalena
    Gawlik, Marzena
    Halat-Wolska, Paulina
    Siestrzykowska, Dorota
    Siuda, Magdalena
    Ploski, Rafal
    Chrzanowska, Krystyna
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 400 - 400