Benefits of whole exome sequencing to advance the genetic diagnosis in patients with differences (disorders) of sex development

被引:0
|
作者
Syryn, Hannes [1 ]
Verdin, Hannah [1 ]
De Velde, Julie Van [1 ]
Becker, Marianne [2 ]
Brachet, Cecile [3 ]
den Brinker, Marieke [4 ]
Depoorter, Sylvia [5 ]
Fudvoye, Julie [6 ]
Klink, Daniel [7 ]
Lysy, Philippe [8 ]
Massa, Guy [9 ]
Reynaert, Nele [10 ]
Rochtus, Anne [10 ]
Staels, Willem [11 ]
Van Loocke, Marlies [10 ]
Cools, Martine [12 ]
De Baere, Elfride [1 ]
机构
[1] Ghent Univ Hosp, Dept Biomol Med, Ctr Med Genet, Ghent, Belgium
[2] Ctr Hosp Luxembourg, Pediat Endocrinol & Diabetol DECCP, Luxembourg, Luxembourg
[3] Hop Univ Enfants Reine Fabiola, Paediat Endocrinol Unit, Brussels, Belgium
[4] Antwerp Univ Hosp, Dept Paediat Endocrinol, Antwerp, Belgium
[5] Gen Hosp Sint Jan Bruges Ostend, Dept Child Endocrinol, Brugge, Belgium
[6] CHU Liege, Dept Pediat, Liege, Belgium
[7] ZNA Queen Paola Childrens Hosp, Div Pediat Endocrinol & Diabet, Antwerp, Belgium
[8] Clin Univ St Luc, Pediat Endocrinol, Brussels, Belgium
[9] Jessa Hosp, Dept Pediat Endocrinol & Diabetol, Hasselt, Belgium
[10] Univ Hosp Leuven, Dept Paediat Endocrinol, Leuven, Belgium
[11] Univ Hosp Brussels, Div Pediat Endocrinol, Jette, Belgium
[12] Ghent Univ Hosp, Dept Internal Med & Pediat, Ghent, Belgium
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
P04.027.B
引用
收藏
页码:382 / 383
页数:2
相关论文
共 50 条
  • [31] Clinical whole-exome sequencing for the diagnosis of Mendelian neuromuscular disorders
    Krenn, M.
    Rath, J.
    Zulehner, G.
    Wagner, M.
    Strom, T-M.
    Stoegmann, E.
    Zimprich, F.
    EUROPEAN JOURNAL OF NEUROLOGY, 2018, 25 : 549 - 549
  • [32] Whole-exome sequencing for the genetic diagnosis of congenital red blood cell membrane disorders in Taiwan
    Lin, Pei-Chin
    Chiou, Shyh-Shin
    Lin, Chien-Yu
    Wang, Shu-Chen
    Huang, Hsi-Yuan
    Chang, Ya-Sian
    Tseng, Yu-Hsin
    Kan, Tzu-Min
    Liao, Yu-Mei
    Tsai, Shih-Pien
    Peng, Ching-Tien
    Chang, Jan-Gowth
    CLINICA CHIMICA ACTA, 2018, 487 : 311 - 317
  • [33] Application of whole exome sequencing for patients with inherited platelet disorders
    Simons, A.
    Stevens-Kroef, M.
    van Heerde, W.
    Schols, S.
    Brons, P.
    de Munnik, S.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1369 - 1369
  • [34] Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
    Choi, Murim
    Scholl, Ute I.
    Ji, Weizhen
    Liu, Tiewen
    Tikhonova, Irina R.
    Zumbo, Paul
    Nayir, Ahmet
    Bakkaloglu, Aysin
    Ozen, Seza
    Sanjad, Sami
    Nelson-Williams, Carol
    Farhi, Anita
    Mane, Shrikant
    Lifton, Richard P.
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2009, 106 (45) : 19096 - 19101
  • [35] GENETIC DIAGNOSIS USING WHOLE EXOME SEQUENCING IN SEVERE CVID PHENOTYPES
    Maffucci, Patrick
    Filion, Charles A.
    Boisson, Bertrand
    Itan, Yuval
    Casanova, Jean-Laurent
    Cunningham-Rundles, Charlotte
    JOURNAL OF CLINICAL IMMUNOLOGY, 2016, 36 (03) : 300 - 301
  • [36] The value of whole exome sequencing for genetic diagnosis in a patient with Bloom syndrome
    Cottrell, E.
    Ladha, T.
    Borysewicz-Sanczyk, H.
    Sawicka, B.
    Savage, M. O.
    Bossowski, A. T.
    Storr, H. L.
    JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, 2021, 44 (06) : 1331 - 1334
  • [37] The value of whole exome sequencing for genetic diagnosis in a patient with Bloom syndrome
    E. Cottrell
    T. Ladha
    H. Borysewicz-Sańczyk
    B. Sawicka
    M. O. Savage
    A. T. Bossowski
    H. L. Storr
    Journal of Endocrinological Investigation, 2021, 44 : 1331 - 1334
  • [38] Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency
    Maffucci, Patrick
    Filion, Charles A.
    Boisson, Bertrand
    Itan, Yuval
    Shang, Lei
    Casanova, Jean-Laurent
    Cunningham-Rundles, Charlotte
    FRONTIERS IN IMMUNOLOGY, 2016, 7
  • [39] Whole-Exome Sequencing for Identifying Genetic Causes of Intellectual Developmental Disorders
    Guo, Yu-Xiong
    Ma, Hong-Xia
    Zhang, Yu-Xin
    Chen, Zhi-Hong
    Zhai, Qiong-Xiang
    INTERNATIONAL JOURNAL OF GENERAL MEDICINE, 2021, 14 : 1275 - 1282
  • [40] NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries
    Malfatti, Edoardo
    Caramizaru, Alexandru
    Lee, Hane
    Kim, Jihye
    Shoaito, Hussein
    Pennisi, Alessandra
    Souvannanorath, Sarah
    Authier, Francois-Jerome
    Dumitrescu, Andreea
    Fahmy, Nagia
    Escobar-Cedillo, Rosa Elena
    Miranda-Duarte, Antonio
    Luna-Angulo, Alexandra Berenice
    Nouioua, Sonia
    Benchaabi, Ouissem
    Tazir, Meriem
    Hallal, Sihem
    Martinez, Peggy
    Castiglioni, Claudia
    Dobrescu, Amelia
    Tajsharghi, Homa
    CLINICAL GENETICS, 2025,