Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience

被引:0
|
作者
Tiziana Vaisitti
Monica Sorbini
Martina Callegari
Silvia Kalantari
Valeria Bracciamà
Francesca Arruga
Silvia Bruna Vanzino
Sabina Rendine
Gabriele Togliatto
Daniela Giachino
Alessandra Pelle
Enrico Cocchi
Chiara Benvenuta
Simone Baldovino
Cristiana Rollino
Roberta Fenoglio
Savino Sciascia
Michela Tamagnone
Corrado Vitale
Giovanni Calabrese
Luigi Biancone
Stefania Bussolino
Silvana Savoldi
Maurizio Borzumati
Vincenzo Cantaluppi
Fabio Chiappero
Silvana Ungari
Licia Peruzzi
Dario Roccatello
Antonio Amoroso
Silvia Deaglio
机构
[1] University of Turin,Department of Medical Sciences
[2] Città della Salute e della Scienza University Hospital,Immunogenetics and Transplant Biology Service
[3] San Luigi Gonzaga University Hospital,Service of Genetic Counseling
[4] University of Turin,Department of Clinical and Biological Sciences
[5] Città della Salute e della Scienza University Hospital,Pediatric Nephrology Dialysis and Transplantation Unit
[6] San Giovanni Bosco Hospital,Nephrology and Dialysis Unit (ERKnet Member)
[7] Nephrology and Dialysis Unit ASL CN1,CMID, Center of Research of Immunopathology and Rare Diseases
[8] Ordine Mauriziano di Torino,Nephrology and Dialysis Unit
[9] Nephrology and Dialysis Unit ASL AL,Renal Transplantation Unit ‘A. Vercellone,’ Division of Nephrology Dialysis and Transplantation
[10] Città della Salute e della Scienza University Hospital,Nephrology and Dialysis Unit of Verbania ASL VCO
[11] Nephrology and Dialysis Unit ASL TO4,Nephrology and Kidney Transplantation Unit
[12] Verbano Cusio Ossola,undefined
[13] Maggiore Della Carità University Hospital,undefined
[14] Nephrology and Dialysis Unit ASL TO3,undefined
[15] Struttura Semplice Genetics and Molecular Biology,undefined
[16] ASL CN1,undefined
来源
Journal of Nephrology | 2021年 / 34卷
关键词
Next-generation sequencing; Chronic kidney failure; Transplantation; Renal monogenic disease;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:1767 / 1781
页数:14
相关论文
共 50 条
  • [1] Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience
    Vaisitti, Tiziana
    Sorbini, Monica
    Callegari, Martina
    Kalantari, Silvia
    Bracciama, Valeria
    Arruga, Francesca
    Vanzino, Silvia Bruna
    Rendine, Sabina
    Togliatto, Gabriele
    Giachino, Daniela
    Pelle, Alessandra
    Cocchi, Enrico
    Benvenuta, Chiara
    Baldovino, Simone
    Rollino, Cristiana
    Fenoglio, Roberta
    Sciascia, Savino
    Tamagnone, Michela
    Vitale, Corrado
    Calabrese, Giovanni
    Biancone, Luigi
    Bussolino, Stefania
    Savoldi, Silvana
    Borzumati, Maurizio
    Cantaluppi, Vincenzo
    Chiappero, Fabio
    Ungari, Silvana
    Peruzzi, Licia
    Roccatello, Dario
    Amoroso, Antonio
    Deaglio, Silvia
    [J]. JOURNAL OF NEPHROLOGY, 2021, 34 (05) : 1767 - 1781
  • [2] USE OF CLINICAL EXOME SEQUENCING IN THE DIAGNOSTIC FLOW OF MONOGENIC KIDNEY DISEASES: THE PIEDMONT EXPERIENCE
    Vaisitti, Tiziana
    Sorbini, Monica
    Callegari, Martina
    Kalantari, Silvia
    Bracciama, Valeria
    Arruga, Francesca
    Vanzino, Silvia Bruna
    Pelle, Alessandra
    Giachino, Daniela
    Cocchi, Enrico
    Baldovino, Simone
    Rollino, Cristiana
    Fenoglio, Roberta
    Peruzzi, Licia
    Roccatello, Dario
    Amoroso, Antonio
    Deaglio, Silvia
    [J]. NEPHROLOGY DIALYSIS TRANSPLANTATION, 2020, 35 : 352 - 352
  • [3] Prenatal exome sequencing, a powerful tool to describe unreported prenatal features of monogenic disorders
    Garde, Aurore
    Mau-Them, Frederic Tran
    Duffourd, Yannis
    Vitobello, Antonio
    Philippe, Christophe
    Thauvin-Robinet, Christel
    Faivre, Laurence
    Bourgon, Nicolas
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 107 - 108
  • [4] Exome sequencing as a diagnostic tool in chronic kidney disease: ready for clinical application?
    Leveson, James
    Oates, Thomas M.
    [J]. CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION, 2020, 29 (06): : 608 - 612
  • [5] Clinical exome sequencing as a powerful tool for the diagnosis of complex phenotypes
    Yucel, E.
    Eraslan, S.
    Altunoglu, U.
    Bertoli-Avella, A.
    Rolfs, A.
    Kayserili, H.
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 674 - 674
  • [6] Diagnostic exome sequencing in cardiac diseases - a single center experience
    Gazou, Anastasia
    Stampfer, Miriam
    Dufke, Andreas
    Riess, Olaf
    Haack, Tobias
    Waldmueller, Stephan
    [J]. INTERNIST, 2019, 60 : S40 - S41
  • [7] Clinical application of whole exome and clinical exome sequencing as a diagnostic tool in Colombian population
    Munoz-Bolanos, A. J.
    Maradei, S. J.
    Bernal, I. T.
    Gomez, Y. M.
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 713 - 713
  • [8] DIAGNOSTIC AND CLINICAL UTILITY OF WHOLE EXOME SEQUENCING IN IMMUNE DISEASES
    Slade, Charlotte A.
    Moghaddas, Fiona
    Masters, Seth
    Winship, Ingrid
    West, Kirsty
    Trainer, Alison
    Ojaimi, Samar
    Hunter, Matthew
    Prawer, Yael
    Nicholls, Katherine
    Patel, Mittal
    Auyeung, Priscilla
    Spriggs, Kymble
    McComish, Jeremy
    Unglik, Gary
    De Luca, Joseph
    Chan, Samantha
    Valente, Giulia
    Lunke, Sebastian
    Stark, Zornitza
    Jarmolowicz, Anna
    Hosking, Laine
    van Dort, Ben
    Cole, Theresa
    Smart, Jo
    Choo, Sharon
    Lynch, Elly
    Gaff, Clara
    Douglass, Jo A.
    Bryant, Vanessa L.
    [J]. INTERNAL MEDICINE JOURNAL, 2018, 48 : 29 - 30
  • [9] Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool
    Tran Mau-Them, Frederic
    Delanne, Julian
    Denomme-Pichon, Anne-Sophie
    Safraou, Hana
    Bruel, Ange-Line
    Vitobello, Antonio
    Garde, Aurore
    Nambot, Sophie
    Bourgon, Nicolas
    Racine, Caroline
    Sorlin, Arthur
    Moutton, Sebastien
    Marle, Nathalie
    Rousseau, Thierry
    Sagot, Paul
    Simon, Emmanuel
    Vincent-Delorme, Catherine
    Boute, Odile
    Colson, Cindy
    Petit, Florence
    Legendre, Marine
    Naudion, Sophie
    Rooryck, Caroline
    Prouteau, Clement
    Colin, Estelle
    Guichet, Agnes
    Ziegler, Alban
    Bonneau, Dominique
    Morel, Godelieve
    Fradin, Melanie
    Lavillaureix, Alinoe
    Quelin, Chloe
    Pasquier, Laurent
    Odent, Sylvie
    Vera, Gabriella
    Goldenberg, Alice
    Guerrot, Anne-Marie
    Brehin, Anne-Claire
    Putoux, Audrey
    Attia, Jocelyne
    Abel, Carine
    Blanchet, Patricia
    Wells, Constance F.
    Deiller, Caroline
    Nizon, Mathilde
    Mercier, Sandra
    Vincent, Marie
    Isidor, Bertrand
    Amiel, Jeanne
    Dard, Rodolphe
    [J]. FRONTIERS IN GENETICS, 2023, 14
  • [10] Clinical exome sequencing in neuromuscular diseases: an experience from Turkey
    Borklu-Yucel, Esra
    Demiriz, Cigdem
    Avci, Sahin
    Vanli-Yavuz, Ebru Nur
    Eraslan, Serpil
    Oflazer, Piraye
    Kayserili, Hulya
    [J]. NEUROLOGICAL SCIENCES, 2020, 41 (08) : 2157 - 2164