Role of Family History and Genetic Testing in Diagnosing Rare Diseases

被引：0
|
作者：
Gonzales, Katrina
Zhong, Weixiong
Singh, Tripti
机构：
来源：
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY | 2024年 / 35卷 / 10期
关键词：
D O I：
10.1681/ASN.2024svxf2e4h
中图分类号：
R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];
学科分类号：
1002 ; 100201 ;
摘要：
TH-PO495
引用
收藏
页数：2
相关论文
共 50 条
  • [1] Genetic Testing for Rare Diseases
    Millan, Jose M.
    Garcia-Garcia, Gema
    DIAGNOSTICS, 2022, 12 (04)
  • [2] Beyond the improvement family genetic testing in rare diseases- Fabry disease
    Navarro de Miguel, Mercedes
    Sanchez-Martinez, Rosario
    Garcia Paya, Elena
    Gutierrez Agullo, Maria
    Girela Lopez, Jose Luis
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 327 - 328
  • [3] The benefits and challenges of family genetic testing in rare genetic diseases - lessons from Fabry disease
    Germain, Dominique P.
    Moiseev, Sergey
    Suarez-Obando, Fernando
    Al Ismaili, Faisal
    Al Khawaja, Huda
    Altarescu, Gheona
    Barreto, Fellype C.
    Haddoum, Farid
    Hadipour, Fatemeh
    Maksimova, Irina
    Kramis, Mirelle
    Nampoothiri, Sheela
    Nguyen, Khanh Ngoc
    Niu, Dau-Ming
    Politei, Juan
    Ro, Long-Sun
    Vu Chi, Dung
    Chen, Nan
    Kutsev, Sergey
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2021, 9 (05):
  • [4] Rare diseases: democratising genetic testing in LMICs
    Nunez-Samudio, Virginia
    Arcos-Burgos, Mauricio
    Landires, Ivan
    LANCET, 2023, 401 (10385): : 1339 - 1340
  • [5] Bottlenecks in molecular testing for rare genetic diseases
    Willems, Patrick J.
    HUMAN MUTATION, 2008, 29 (06) : 772 - 775
  • [6] Evaluation of the Validity and Utility of Genetic Testing for Rare Diseases
    Grosse, Scott D.
    Kalman, Lisa
    Khoury, Muin J.
    RARE DISEASES EPIDEMIOLOGY, 2010, 686 : 115 - 131
  • [7] Family History and Genetic Testing for Cancer Risk
    Acheson, Louise
    AMERICAN FAMILY PHYSICIAN, 2010, 81 (08) : 934 - +
  • [8] Importance of family history and indications for genetic testing
    Wood, Marie E.
    Rehman, Hibba Tul
    Bedrosian, Isabelle
    BREAST JOURNAL, 2020, 26 (01): : 100 - 104
  • [9] Diagnosing rare diseases and mental well-being: a family's story
    Zhang, Zheqing
    ORPHANET JOURNAL OF RARE DISEASES, 2023, 18 (01)
  • [10] Diagnosing rare diseases and mental well-being: a family’s story
    Zheqing Zhang
    Orphanet Journal of Rare Diseases, 18
12345