Mutational screening in Italian patients with primary ciliary dyskinesia by next-generation sequencing (NGS)

被引：0
|
作者：
Snijders, Deborah
Boaretto, Francesca
Salvoro, Cecilia
Barbato, Angelo
Vazza, Giovanni
机构：
来源：
EUROPEAN RESPIRATORY JOURNAL | 2016年 / 48卷
关键词：
Children; Genetics; Chronic disease;
D O I：
10.1183/13993003.congress-2016.PA3123
中图分类号：
R56 [呼吸系及胸部疾病];
学科分类号：
摘要：
PA3123
引用
收藏
页数：1
相关论文
共 50 条
  • [1] Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel Molecular and Clinical Findings in Italian Patients
    Boaretto, Francesca
    Snijders, Deborah
    Salvoro, Cecilia
    Spalletta, Ambra
    Mostacciuolo, Maria Luisa
    Collura, Mirella
    Cazzato, Salvatore
    Girosi, DonateLla
    Silvestri, Michela
    Rossi, Giovanni Arturo
    Barbato, Angelo
    Vazza, Giovanni
    [J]. JOURNAL OF MOLECULAR DIAGNOSTICS, 2016, 18 (06): : 912 - 922
  • [2] A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia
    Takeuchi, Kazuhiko
    Kitano, Masako
    Kiyotoshi, Hiroko
    Ikegami, Koji
    Ogawa, Satoru
    Ikejiri, Makoto
    Nagao, Mizuho
    Fujisawa, Takao
    Nakatani, Kaname
    [J]. AURIS NASUS LARYNX, 2018, 45 (03) : 585 - 591
  • [3] Early genetic analysis by next-generation sequencing improves diagnosis of primary ciliary dyskinesia
    Petrarca, Laura
    De Luca, Alessandro
    Nenna, Raffaella
    Hadchouel, Alice
    Mazza, Tommaso
    Conti, Maria Giulia
    Masuelli, Laura
    Midulla, Fabio
    Guida, Valentina
    [J]. PEDIATRIC PULMONOLOGY, 2023, 58 (10) : 2950 - 2953
  • [4] Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients
    Imed Mabrouk
    Nawal Al-Harthi
    Rahma Mani
    Guy Montantin
    Sylvie Tissier
    Rihab Lagha
    Fethi Ben Abdallah
    Mohamad M. Hassan
    Majid Alhomrani
    Ahmed Gaber
    Walaa F. Alsanie
    Hanadi Ouali
    Fatma A. Jambi
    Talal M. Almaghamsi
    Nawal A. Alqarni
    Nawaf A. Alfarsi
    Khadija Kashgari
    Hasna J. Al-Zahrani
    Zamel A. Al-Shamary
    Abdullah Al-Harbi
    Serge Amselem
    Estelle Escudier
    Marie Legendre
    [J]. Journal of Human Genetics, 2022, 67 : 381 - 386
  • [5] Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients
    Mabrouk, Imed
    Al-Harthi, Nawal
    Mani, Rahma
    Montantin, Guy
    Tissier, Sylvie
    Lagha, Rihab
    Ben Abdallah, Fethi
    Hassan, Mohamad M.
    Alhomrani, Majid
    Gaber, Ahmed
    Alsanie, Walaa F.
    Ouali, Hanadi
    Jambi, Fatma A.
    Almaghamsi, Talal M.
    Alqarni, Nawal A.
    Alfarsi, Nawaf A.
    Kashgari, Khadija
    Al-Zahrani, Hasna J.
    Al-Shamary, Zamel A.
    Al-Harbi, Abdullah
    Amselem, Serge
    Escudier, Estelle
    Legendre, Marie
    [J]. JOURNAL OF HUMAN GENETICS, 2022, 67 (07) : 381 - 386
  • [6] IMPACT OF NEXT-GENERATION SEQUENCING (NGS) FOR PRIMARY ENDOCRINE RESISTANCE ON BREAST CANCER PATIENTS
    Song, Zhenchuan
    Li, Ruoyang
    Feng, Shuo
    Hui, Tianli
    Li, Fugen
    Li, Jingyu
    Xu, Jiajia
    [J]. BREAST, 2017, 36 : S62 - S62
  • [7] Impact of next-generation sequencing (NGS) for primary endocrine resistance in breast cancer patients
    Li, Ruoyang
    Tang, Tiantian
    Tang, Tianli
    Song, Zhenchuan
    Li, Fugen
    Li, Jingyu
    Xu, Jiajia
    [J]. INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY, 2018, 11 (11): : 5450 - 5458
  • [8] An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia
    Djakow, Jana
    Kramna, Lenka
    Dusatkova, Lenka
    Uhlik, Jiri
    Pursiheimo, Juha-Pekka
    Svobodova, Tamara
    Pohunek, Petr
    Cinek, Ondrej
    [J]. PEDIATRIC PULMONOLOGY, 2016, 51 (05) : 498 - 509
  • [9] GENETIC SCREENING IN A LARGE COHORT OF ITALIAN PATIENTS AFFECTED BY PRIMARY LYMPHEDEMA USING A NEXT GENERATION SEQUENCING (NGS) APPROACH
    Michelini, S.
    Vettori, A.
    Maltese, P. E.
    Cardone, M.
    Bruson, A.
    Fiorentino, A.
    Cappellino, F.
    Sainato, V.
    Guerri, G.
    Marceddu, G.
    Tezzele, S.
    Bertelli, M.
    [J]. LYMPHOLOGY, 2016, 49 (02) : 57 - 72
  • [10] Next-Generation Sequencing (NGS): Platforms and Applications
    Mandlik, Jyoti S.
    Patil, Amol S.
    Singh, Sarita
    [J]. JOURNAL OF PHARMACY AND BIOALLIED SCIENCES, 2024, 16 : S41 - S45
12345