Genetic Testing of Noonan Syndrome Using Targeted Next-Generation Sequencing Panel

被引：0
|
作者：
Seol, C.
Lee, B.
Yoo, H.
Choi, S.
Lee, J.
Seo, E.
机构：
[1] Univ Ulsan, Coll Med, Seoul, South Korea
[2] Univ Ulsan, Asan Med Ctr, Seoul, South Korea
来源：
JOURNAL OF MOLECULAR DIAGNOSTICS | 2017年 / 19卷 / 06期
关键词：
D O I：
暂无
中图分类号：
R36 [病理学];
学科分类号：
100104 ;
摘要：
G27
引用
收藏
页码：949 / 949
页数：1
相关论文
共 50 条
  • [21] GENETIC TESTING FOR MONOGENIC DIABETES USING TARGETED NEXT-GENERATION SEQUENCING IN THE MODY REGISTRY COHORT OF POLAND
    Szopa, M.
    Ludwig-Galezowska, A.
    Machlowska, J.
    Skupien, J.
    Radkowski, P.
    Klupa, T.
    Kiec-Wilk, B.
    Wybranska, I.
    Wolkow, P.
    Malecki, M. T.
    DIABETES TECHNOLOGY & THERAPEUTICS, 2015, 17 : A141 - A141
  • [22] Genetic testing for monogenic diabetes using targeted next-generation sequencing in the MODY registry cohort of Poland
    Ludwig-Galezowska, A.
    Szopa, M.
    Machlowska, J.
    Skupien, J.
    Radkowski, P.
    Klupa, T.
    Koblik, T.
    Zapala, B.
    Staszel, T.
    Kiec-Wilk, B.
    Wybranska, I.
    Wolkow, P.
    Malecki, M. T.
    DIABETOLOGIA, 2014, 57 : S158 - S158
  • [23] Re-evaluation of Genetic Variants in Parkinson's Disease Using Targeted Panel and Next-Generation Sequencing
    Kablan, Ahmet
    Silan, Fatma
    Ozdemir, Ozturk
    TWIN RESEARCH AND HUMAN GENETICS, 2023, 26 (02) : 164 - 170
  • [24] Outcomes of Next-Generation Sequencing Panel Testing for Primary Immunodeficiency
    Padem, Nurcicek
    Ing, Alexander
    Yap, Kai Lee
    Mustafa, Asma
    Shank, Jessica
    McGinnis, Erin
    Weiss, Shelly
    Jennings, Larry
    Fuleihan, Ramsay L.
    Makhija, Melanie M.
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2019, 143 (02) : AB110 - AB110
  • [25] Diagnostic Utility of the Targeted Next-Generation Sequencing Panel Test for Suspicious Genetic Glomerular Diseases
    Kim, Ji Hye
    Lee, Hajeong
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2022, 33 (11): : 755 - 755
  • [26] A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia
    Johnson, Ben
    Doak, Rachel
    Allsup, David
    Astwood, Emma
    Evans, Gillian
    Grimley, Charlotte
    James, Beki
    Myers, Bethan
    Stokley, Simone
    Thachil, Jecko
    Wilde, Jonathan
    Williams, Mike
    Makris, Mike
    Lowe, Gillian C.
    Wallis, Yvonne
    Daly, Martina E.
    Morgan, Neil, V
    RESEARCH AND PRACTICE IN THROMBOSIS AND HAEMOSTASIS, 2018, 2 (04) : 640 - 652
  • [27] Impact of comprehensive tumor profiling using a targeted next-generation sequencing panel in Brazil
    Moreira, Raphael Brandao
    Cruz, Marcelo Rocha S.
    Gomes, Jessica Ribeiro
    Soares de Sousa, Tercia Tarciane
    Fernandes Amarante, Marcus Paulo
    Schutz, Fabio
    Costa, Marcos Andre
    Haddad, Carolina Kawamura
    Schmerling, Rafael
    Maluf, Fernando C.
    Buzaid, Antonio C.
    D'Alpino, Renata D'Alpino
    JOURNAL OF CLINICAL ONCOLOGY, 2015, 33 (15)
  • [28] The Clinical Validation of a Targeted Next-Generation Sequencing Panel for Lymphoid Malignancies
    Artymiuk, C.
    Basu, S.
    Koganti, T.
    Tandale, P.
    Balan, J.
    Dina, M.
    Fritcher, E. Barr
    Wu, X.
    Ashworth, T.
    He, R.
    Viswanatha, D.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2023, 25 (11): : S45 - S45
  • [29] Validation of a Comprehensive, Targeted Next-Generation Sequencing Panel for Solid Tumors
    Barrie, E.
    Yu, X.
    Sabato-Charreun, F.
    Olson, T.
    Ganesh, V.
    Williamson, V.
    Bullard, B.
    Gonzalez, I.
    Barrick, B.
    Paulraj, P.
    Turner, S.
    Ferreira-Gonzalez, A.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2020, 22 (11): : S62 - S63
  • [30] Comprehensive genetic testing approach for major inherited kidney diseases, using next-generation sequencing with a custom panel
    Mori, Takayasu
    Hosomichi, Kazuyoshi
    Chiga, Motoko
    Mandai, Shintaro
    Nakaoka, Hirofumi
    Sohara, Eisei
    Okado, Tomokazu
    Rai, Tatemitsu
    Sasaki, Sei
    Inoue, Ituro
    Uchida, Shinichi
    CLINICAL AND EXPERIMENTAL NEPHROLOGY, 2017, 21 (01) : 63 - 75
12345