Single Center Experience in Next Generation Sequencing for Genetic Diagnosis of Autoinflammatory Disorders

被引:0
|
作者
Insalaco, Antonella [1 ]
Pisaneschi, Elisa [2 ]
Lepri, Francesca Romana [2 ]
Minervino, Daniele [2 ]
Messia, Virginia [1 ]
Pardeo, Manuela [3 ]
De Benedetti, Fabrizio [1 ]
机构
[1] IRCCS Osped Pediat Bambino Gesu, Dept Pediat Med, Div Rheumatol, Rome, Italy
[2] IRCCS, Osped Pediat Bambino Gesu, Dept Cytogenet, Rome, Italy
[3] IRCCS, Osped Pediat Bambino Gesu, Dept Pediat Med, Div Rheumatol, Rome, Italy
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
2470
引用
收藏
页数:2
相关论文
共 50 条
  • [1] Single center experience in Next Generation Sequencing for genetic diagnosis of Autoinflammatory Disorders (AIDs)
    FR Lepri
    E Pisaneschi
    D Minervino
    V Messia
    M Pardeo
    F de Benedetti
    A Insalaco
    [J]. Pediatric Rheumatology, 13 (Suppl 1)
  • [2] SINGLE CENTER EXPERIENCE IN NEXT GENERATION SEQUENCING FOR GENETIC DIAGNOSIS OF AUTOINFLAMMATORY DISORDERS (AIDS)
    Lepri, F. R.
    Pisaneschi, E.
    Minervino, D.
    Messia, V.
    Pardeo, M.
    De Benedetti, F.
    Insalaco, A.
    [J]. ANNALS OF THE RHEUMATIC DISEASES, 2015, 74 : 67 - 67
  • [3] Next generation sequencing (NGS) in glial tumor diagnosis-Single center experience
    Akar, K. E.
    Sakar, M.
    Atasoy, B. M.
    Dagcinar, A.
    Ziyal, I.
    Bozkurt, S. Uyar
    [J]. BRAIN PATHOLOGY, 2023, 33
  • [4] Diagnosis of genetic disorders in childhood with next-generation sequencing
    Otilia, Menyhart
    Balazs, Gyorffy
    Andras, Szabo
    [J]. ORVOSI HETILAP, 2022, 163 (51) : 2027 - 2040
  • [5] Positive Impact of Expert Reference Center Validation on Performance of Next-Generation Sequencing for Genetic Diagnosis of Autoinflammatory Diseases
    Boursier, Guilaine
    Rittore, Cecile
    Georgin-Lavialle, Sophie
    Belot, Alexandre
    Galeotti, Caroline
    Hachulla, Eric
    Hentgen, Veronique
    Rossi-Semerano, Linda
    Sarrabay, Guillaume
    Touitou, Isabelle
    [J]. JOURNAL OF CLINICAL MEDICINE, 2019, 8 (10)
  • [6] Next-Generation Sequencing for Patients with Sarcoma: A Single Center Experience
    Cote, Gregory M.
    He, Jie
    Choy, Edwin
    [J]. ONCOLOGIST, 2018, 23 (02): : 234 - 242
  • [7] Noninvasive Diagnosis of Infection Using Plasma Next-Generation Sequencing: A Single-Center Experience
    Rossoff, Jenna
    Chaudhury, Sonali
    Soneji, Maulin
    Patel, Sameer J.
    Kwon, Soyang
    Armstrong, Amy
    Muller, William J.
    [J]. OPEN FORUM INFECTIOUS DISEASES, 2019, 6 (08):
  • [8] 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
  • [9] Application of next-generation sequencing technology to diagnosis of genetic iron disorders
    Mcdonald, Cameron
    Wallace, Daniel
    Crawford, Darrell H.
    Subramaniam, Nathan
    [J]. JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, 2012, 27 : 10 - 11
  • [10] Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders
    Chae, Jong Hee
    Vasta, Valeria
    Cho, Anna
    Lim, Byung Chan
    Zhang, Qing
    Eun, So Hee
    Hahn, Si Houn
    [J]. JOURNAL OF MEDICAL GENETICS, 2015, 52 (03) : 208 - U1111