Next generation sequencing is a promising tool for the diagnosis of hereditary neuropathies

被引:0
|
作者
Good, Jean-Marc [1 ]
Tran, Christel [1 ]
Unger, Sheila [1 ]
Fodstad, Heidi [1 ]
Mittaz-Crettol, Laureane [1 ]
Royer-Bertrand, Beryl [1 ]
Superti-Furga, Andrea [1 ]
Kuntzer, Thierry [1 ]
机构
[1] Univ Lausanne, Lausanne, Switzerland
关键词
Human Genetics; CMTR; Other;
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
115
引用
收藏
页码:401 / 401
页数:1
相关论文
共 50 条
  • [21] Role of next generation sequencing technologies for the molecular diagnosis of hereditary breast cancers
    Starnone, Flavio
    Esposito, Maria Valeria
    Nunziato, Marcella
    Di Maggio, Federica
    D'Argenio, Valeria
    [J]. BIOCHIMICA CLINICA, 2018, 42 (04) : 285 - 293
  • [22] Hereditary spastic paraplegias in Hungary - Genetic diagnosis improved by next generation sequencing
    Balicza, P.
    Gonzalez, M.
    Gal, A.
    Bereznai, B.
    Zuechner, S.
    Molnar, M. J.
    [J]. EUROPEAN JOURNAL OF NEUROLOGY, 2014, 21 : 208 - 208
  • [23] Hereditary spastic paraplegias: design of a diagnosis kit using next generation sequencing
    Raymond, L.
    Mundwiller, E.
    Morais, S.
    Depienne, C.
    Banneau, G.
    Cazeneuve, C.
    Leguern, E.
    Durr, A.
    Brice, A.
    Marie, Y.
    Stevanin, G.
    [J]. EUROPEAN JOURNAL OF NEUROLOGY, 2014, 21 : 378 - 378
  • [24] Next generation sequencing for diagnosis of hereditary anemia: Experience in a Spanish reference center
    Nieto, Jorge M.
    Rochas-Lopez, Sara
    Gonzalez-Fernandez, Fernando A.
    Villegas-Martinez, Ana
    Bolan-Calderon, Estefania
    Salido-Fierrez, Eduardo
    Cela, Elena
    Huerta-Aragoneses, Jorge
    Ordon-Garcia, Maria
    Muruzabal-Sitges, Maria J.
    Abio-Calvete, Mariola
    Navarro, Julian Sevilla
    de la Iglesia, Silvia
    Morado, Marta
    San Roman-Pacheco, Sonsoles
    Martin-Mateos, Maria L.
    Recasens-Flores, Maria V.
    Benavente-Cuesta, Celina
    Ropero-Gradilla, Paloma
    [J]. CLINICA CHIMICA ACTA, 2022, 531 : 112 - 119
  • [25] Clinical utility of next-generation sequencing in the diagnosis of hereditary haemolytic anaemias
    Agarwal, Archana M.
    Nussenzveig, Roberto H.
    Reading, Noel S.
    Patel, Jay L.
    Sangle, Nikhil
    Salama, Mohamed E.
    Prchal, Josef T.
    Perkins, Sherrie L.
    Yaish, Hassan M.
    Christensen, Robert D.
    [J]. BRITISH JOURNAL OF HAEMATOLOGY, 2016, 174 (05) : 806 - 814
  • [26] Next Generation Sequencing Is a Useful Tool for the Diagnosis of Congenital/Idiopathic Erythrocytoses
    Girodon, Francois
    Airaud, Fabrice
    Celine, Garrec
    Mathilde, Pacault
    Solenne, Dumont
    Ingrid, Ricordeau
    Stephane, Bezieau
    Gardie, Betty
    [J]. BLOOD, 2016, 128 (22)
  • [27] NEXT GENERATION SEQUENCING - A KEY TOOL FOR DIAGNOSIS AND INVESTIGATION OF FAMILIAL DYSLIPIDEMIAS
    Miranda, Beatriz R.
    Alves, Ana C.
    Bourbon, Mafalda
    [J]. MEDICINE, 2023, 102 (13)
  • [28] Is next-generation sequencing an important tool in HPV subtype diagnosis?
    Wood, Henry M.
    Bolt, Robert
    Hunter, Keith D.
    [J]. EXPERT REVIEW OF MOLECULAR DIAGNOSTICS, 2012, 12 (07) : 663 - 665
  • [29] Stagnation in Quality of Next-Generation Sequencing Assays for the Diagnosis of Hereditary Hematopoietic Malignancies
    Roloff, Gregory W.
    Shaw, Reid
    O'Connor, Timothy E.
    Drazer, Michael W.
    [J]. BLOOD, 2022, 140 : 5090 - 5091
  • [30] Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy
    Lupo, Vincenzo
    Garcia-Garcia, Francisco
    Sancho, Paula
    Tello, Cristina
    Garcia-Romero, Mar
    Villarreal, Liliana
    Alberti, Antonia
    Sivera, Rafael
    Dopazo, Joaquin
    Pascual-Pascual, Samuel I.
    Marquez-Infante, Celedonio
    Casasnovas, Carlos
    Sevilla, Teresa
    Espinos, Carmen
    [J]. JOURNAL OF MOLECULAR DIAGNOSTICS, 2016, 18 (02): : 225 - 234