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
  • [31] Next-generation sequencing for preimplantation genetic diagnosis
    Treff, Nathan R.
    Forman, Eric J.
    Scott, Richard T., Jr.
    [J]. FERTILITY AND STERILITY, 2013, 99 (06) : E17 - E18
  • [32] The challenges of pseudogenes in genetic diagnosis by Next Generation Sequencing
    Pinto, Andreia
    Melo, Filipa
    Ferreira, Mariana
    Bastos, Luisa
    Marques, Sofia
    Almeida, Ligia S.
    Cerqueira, Rita
    Basto, Jorge Pinto
    [J]. MEDICINE, 2020, 99 (09)
  • [33] Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience
    Almubarak, Asra
    Zhang, Dan
    Kosak, Mackenzie
    Rathwell, Sarah
    Doonanco, Jasmine
    Eaton, Alison J.
    Kannu, Peter
    Lazier, Joanna
    Lui, Monique
    Niederhoffer, Karen Y.
    MacPherson, Melissa J.
    Sorsdahl, Melissa
    Caluseriu, Oana
    [J]. GENES, 2022, 13 (11)
  • [34] Economic evaluation of next-generation sequencing techniques in diagnosis of genetic disorders: A systematic review
    Rezapour, Aziz
    Souresrafil, Aghdas
    Barzegar, Mohammad
    Sheikhy-Chaman, Mohammadreza
    Tatarpour, Parvin
    [J]. CLINICAL GENETICS, 2023, 103 (05) : 513 - 528
  • [35] A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement
    Prasad, Megana K.
    Geoffroy, Veronique
    Vicaire, Serge
    Jost, Bernard
    Dumas, Michael
    Le Gras, Stephanie
    Switala, Marzena
    Gasse, Barbara
    Laugel-Haushalter, Virginie
    Paschaki, Marie
    Leheup, Bruno
    Droz, Dominique
    Dalstein, Amelie
    Loing, Adeline
    Grollemund, Bruno
    Muller-Bolla, Michele
    Lopez-Cazaux, Serena
    Minoux, Maryline
    Jung, Sophie
    Obry, Frederic
    Vogt, Vincent
    Davideau, Jean-Luc
    Davit-Beal, Tiphaine
    Kaiser, Anne-Sophie
    Moog, Ute
    Richard, Beatrice
    Morrier, Jean-Jacques
    Duprez, Jean-Pierre
    Odent, Sylvie
    Bailleul-Forestier, Isabelle
    Rousset, Monique Marie
    Merametdijan, Laure
    Toutain, Annick
    Joseph, Clara
    Giuliano, Fabienne
    Dahlet, Jean-Christophe
    Courval, Aymeric
    El Alloussi, Mustapha
    Laouina, Samir
    Soskin, Sylvie
    Guffon, Nathalie
    Dieux, Anne
    Doray, Berenice
    Feierabend, Stephanie
    Ginglinger, Emmanuelle
    Fournier, Benjamin
    Molla, Muriel de la Dure
    Alembik, Yves
    Tardieu, Corinne
    Clauss, Francois
    [J]. JOURNAL OF MEDICAL GENETICS, 2016, 53 (02) : 98 - 110
  • [36] Commentary on "Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience"
    Jin, Hye Young
    [J]. ANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2024, 29 (01) : 1 - 2
  • [37] The Promise of Next-Generation Sequencing in Improving the Diagnosis of Rare Genetic Disorders in Developing Countries
    Akram, Zaineb
    Iftikhar, Raheel
    Satti, Humayoon Shafique
    Chaudhry, Qamar Un Nisa
    Ghafoor, Tariq
    Khattak, Tariq
    Shahbaz, Nighat
    Khan, Mehreen Ali
    Sial, Nadia
    Javed, Hammad
    Toor, Saima Humayun
    Khan, Maryam
    Khan, Memoona
    [J]. BLOOD, 2022, 140 : 13009 - 13010
  • [38] Genomic Testing for Diagnosis of Genetic Disorders in Children: Chromosomal Microarray and Next-Generation Sequencing
    Narayanan, Dhanya Lakshmi
    Girisha, Katta Mohan
    [J]. INDIAN PEDIATRICS, 2020, 57 (06) : 549 - 554
  • [39] Clinical applications of next-generation sequencing in the diagnosis of genetic disorders in Korea: a narrative review
    Yoon, Jihoon G.
    Kim, Man Jin
    Kwon, Yong Jin
    Chae, Jong-Hee
    [J]. JOURNAL OF THE KOREAN MEDICAL ASSOCIATION, 2023, 66 (10): : 613 - 623
  • [40] Next Generation Sequencing Reveals Pathogenic and Actionable Genetic Alterations of Soft Tissue Sarcoma in Chinese Patients: A Single Center Experience
    Jin, Gu
    Wang, Chunyang
    Jia, Dongdong
    Qian, Wenkang
    Yin, Chunming
    Wang, Danhua
    Yang, Quanyu
    Li, Tao
    Zheng, Aiwen
    [J]. TECHNOLOGY IN CANCER RESEARCH & TREATMENT, 2021, 20