NEXT GENERATION SEQUENCING ANALYSIS OF FAMILIES WITH CONGENITAL HEART DISEASE

被引：0
|
作者：
Bowles, N. E. [1 ]
Bleyl, S. B. [1 ,2 ]
Leppert, M. F. [1 ]
Arrington, C. B. [1 ]
机构：
[1] Univ Utah, Salt Lake City, UT USA
[2] Intermt Healthcare, Clin Genet Inst, Salt Lake City, UT USA
来源：
CARDIOLOGY | 2014年 / 128卷
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：
229
引用
收藏
页码：243 / 243
页数：1
相关论文
共 50 条
  • [21] Four mutations identified in Chinese families with autosomal dominant congenital cataracts by next-generation sequencing
    Yang, Xinyi
    Zhao, Zitong
    Wang, Chun
    Wang, Wenxuan
    Zhang, Lu
    GENES & GENOMICS, 2024, 46 (08) : 917 - 925
  • [22] Next Generation Sequencing Analysis of Congenital Hypothyroidism Patients in A Single Tertiary Center
    Park, Jisun
    Kim, Sujin
    Lee, Jieun
    HORMONE RESEARCH IN PAEDIATRICS, 2022, 95 (SUPPL 2): : 412 - 412
  • [23] Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing
    Hosono, Katsuhiro
    Nishina, Sachiko
    Yokoi, Tadashi
    Katagiri, Satoshi
    Saitsu, Hirotomo
    Kurata, Kentaro
    Miyamichi, Daisuke
    Hikoya, Akiko
    Mizobuchi, Kei
    Nakano, Tadashi
    Minoshima, Shinsei
    Fukami, Maki
    Kondo, Hiroyuki
    Sato, Miho
    Hayashi, Takaaki
    Azuma, Noriyuki
    Hotta, Yoshihiro
    SCIENTIFIC REPORTS, 2018, 8
  • [24] First application of next-generation sequencing in four families with Wilson disease in Morocco
    Sahli, Maryem
    Zrhidri, Abdelali
    El Kadiri, Youssef
    Cherkaoui Jaouad, Imane
    Meskini, Toufik
    Sefiani, Abdelaziz
    EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, 2023, 24 (01)
  • [25] First application of next-generation sequencing in four families with Wilson disease in Morocco
    Maryem Sahli
    Abdelali Zrhidri
    Youssef El Kadiri
    Imane Cherkaoui Jaouad
    Toufik Meskini
    Abdelaziz Sefiani
    Egyptian Journal of Medical Human Genetics, 24
  • [26] Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing
    Katsuhiro Hosono
    Sachiko Nishina
    Tadashi Yokoi
    Satoshi Katagiri
    Hirotomo Saitsu
    Kentaro Kurata
    Daisuke Miyamichi
    Akiko Hikoya
    Kei Mizobuchi
    Tadashi Nakano
    Shinsei Minoshima
    Maki Fukami
    Hiroyuki Kondo
    Miho Sato
    Takaaki Hayashi
    Noriyuki Azuma
    Yoshihiro Hotta
    Scientific Reports, 8
  • [27] Next-generation sequencing of patients with congenital anosmia
    Alkelai, Anna
    Olender, Tsviya
    Dode, Catherine
    Shushan, Sagit
    Tatarskyy, Pavel
    Furman-Haran, Edna
    Boyko, Valery
    Gross-Isseroff, Ruth
    Halvorsen, Matthew
    Greenbaum, Lior
    Milgrom, Roni
    Yamada, Kazuya
    Haneishi, Ayumi
    Blau, Ilan
    Lancet, Doron
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2017, 25 (12) : 1377 - 1387
  • [28] Next-generation sequencing of patients with congenital anosmia
    Anna Alkelai
    Tsviya Olender
    Catherine Dode
    Sagit Shushan
    Pavel Tatarskyy
    Edna Furman-Haran
    Valery Boyko
    Ruth Gross-Isseroff
    Matthew Halvorsen
    Lior Greenbaum
    Roni Milgrom
    Kazuya Yamada
    Ayumi Haneishi
    Ilan Blau
    Doron Lancet
    European Journal of Human Genetics, 2017, 25 : 1377 - 1387
  • [29] Next generation sequencing application in congenital fetal anomalies
    Hur, Hyewon
    AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 2024, 230 (01) : S126 - S127
  • [30] Identification of clinically actionable variants from genome sequencing of families with congenital heart disease
    Alankarage, Dimuthu
    Ip, Eddie
    Szot, Justin O.
    Munro, Jacob
    Blue, Gillian M.
    Harrison, Katrina
    Cuny, Hartmut
    Enriquez, Annabelle
    Troup, Michael
    Humphreys, David T.
    Wilson, Meredith
    Harvey, Richard P.
    Sholler, Gary F.
    Graham, Robert M.
    Ho, Joshua W. K.
    Kirk, Edwin P.
    Pachter, Nicholas
    Chapman, Gavin
    Winlaw, David S.
    Giannoulatou, Eleni
    Dunwoodie, Sally L.
    GENETICS IN MEDICINE, 2019, 21 (05) : 1111 - 1120
12345