A targeted next-generation sequencing panel outcomes for the molecular diagnosis of Ectodermal Dysplasia in Spanish population

被引：0
|
作者：
Martinez-Romero, M. [1 ,2 ,3 ]
Ballesta Martinez, Maria Juliana [2 ,3 ,4 ]
Teresa Serrano-Anton, Ana [2 ,3 ,4 ]
Sanchez Soler, Maria Jose [2 ,3 ,4 ]
Rodriguez-Pena, Lidia [4 ]
Lopez Gonzalez, Vanesa [2 ,4 ,5 ]
Barreda-Sanchez, Maria [2 ,3 ,4 ]
Elena Perez-Tomas, Maria [4 ]
Dominguez Jimenez, Marta [4 ]
Martinez-Menchon, Teresa [6 ]
Carbonell Meseguer, Pablo [1 ,2 ]
Guillen-Navarro, Encarna [2 ,4 ,5 ]
机构：
[1] Virgen Arrixaca Univ Clin Hosp, IMIB Pascual Parrilla, Biochem & Clin Genet Ctr, Mol Genet Sect, Murcia, Spain
[2] CIBERER ISCIII, Murcia, Spain
[3] UCAM Catholic Univ Murcia, Fac Med & Hlth Sci, Murcia, Spain
[4] Virgen Arrixaca Univ Clin Hosp, IMIB Pascual Parrilla, Pediat Dept, Med Genet Sect, Murcia, Spain
[5] Univ Murcia UMU, Fac Med, Murcia, Spain
[6] Virgen Arrixaca Univ Clin Hosp, IMIB Pascual Parrilla, Dermatol Dept, Murcia, Spain
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷
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：
EP05.029
引用
收藏
页码：144 / 144
页数：1
相关论文
共 50 条
  • [1] Molecular Diagnosis of Craniosynostosis Using Targeted Next-Generation Sequencing
    Yoon, Jihoon G.
    Hahn, Hyung Min
    Choi, Sungkyoung
    Kim, Soo Jung
    Aum, Sowon
    Yu, Jung Woo
    Park, Eun Kyung
    Shim, Kyu Won
    Lee, Min Goo
    Kim, Yong Oock
    [J]. NEUROSURGERY, 2020, 87 (02) : 294 - 302
  • [2] Targeted next generation sequencing of Hypohidrotic ectodermal dysplasia in Egyptian pedigrees
    Radwan, Hoda Abdalla Ahmed
    Amr, Khalda Sayed
    Rabie, Eman
    El-Kamah, Ghada
    Sayed, Inas
    Mehrez, Mennat
    Hassib, Nehal
    Zada, Suher
    Abuzaid, Maha
    Abdel-Kader, Mohamed
    Mostafa, Mostafa
    Mohsen, Yasmine
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 161 - 161
  • [3] A Custom Targeted Next-Generation Sequencing Gene Panel for the Diagnosis of Genetic Nephropathies
    Larsen, Christopher P.
    Durfee, Tim
    Wilson, Jon D.
    Beggs, Marjorie L.
    [J]. AMERICAN JOURNAL OF KIDNEY DISEASES, 2016, 67 (06) : 992 - 993
  • [4] A TARGETED NEXT-GENERATION SEQUENCING GENE PANEL FOR AUTOINFLAMMATION
    Omoyinmi, E.
    Standing, A.
    Keylock, A.
    Rowczenio, D.
    Gomes, S. Melo
    Cullup, T.
    Jenkins, L.
    Gilmour, K.
    Eleftheriou, D.
    Lachmann, H.
    Hawkins, P.
    Klein, N.
    Brogan, P.
    [J]. ANNALS OF THE RHEUMATIC DISEASES, 2016, 75 : 667 - 667
  • [5] A Targeted Next-Generation Sequencing Panel to Genotype Gliomas
    Guarnaccia, Maria
    Guarnaccia, Laura
    La Cognata, Valentina
    Navone, Stefania Elena
    Campanella, Rolando
    Ampollini, Antonella
    Locatelli, Marco
    Miozzo, Monica
    Marfia, Giovanni
    Cavallaro, Sebastiano
    [J]. LIFE-BASEL, 2022, 12 (07):
  • [6] Commentary: Molecular Diagnosis of Craniosynostosis Using Targeted Next-Generation Sequencing
    Quon, Jennifer L.
    Grant, Gerald A.
    [J]. NEUROSURGERY, 2020, 87 (02) : E108 - E109
  • [7] Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing
    Sevy, Amandine
    Cerino, Mathieu
    Gorokhova, Svetlana
    Dionnet, Eugenie
    Mathieu, Yves
    Verschueren, Annie
    Franques, Jerome
    de Paula, Andre Maues
    Figarella-Branger, Dominique
    Lagarde, Arnaud
    Desvignes, Jean Pierre
    Beroud, Christophe
    Attarian, Shahram
    Levy, Nicolas
    Bartoli, Marc
    Krahn, Martin
    Campana-Salort, Emmanuelle
    Pouget, Jean
    [J]. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2016, 87 (03): : 340 - U116
  • [8] MOLECULAR DIAGNOSIS OF ABNORMALITIES OF HDL CHOLESTEROL BY TARGETED NEXT-GENERATION SEQUENCING
    Sadananda, S.
    Foo, J. N.
    Toh, M. T.
    Francis, G.
    Frohlich, J.
    Khor, C. C.
    Brunham, L.
    [J]. ATHEROSCLEROSIS, 2015, 241 (01) : E117 - E117
  • [9] Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing
    Calvo, Sarah E.
    Compton, Alison G.
    Hershman, Steven G.
    Lim, Sze Chern
    Lieber, Daniel S.
    Tucker, Elena J.
    Laskowski, Adrienne
    Garone, Caterina
    Liu, Shangtao
    Jaffe, David B.
    Christodoulou, John
    Fletcher, Janice M.
    Bruno, Damien L.
    Goldblatt, Jack
    DiMauro, Salvatore
    Thorburn, David R.
    Mootha, Vamsi K.
    [J]. SCIENCE TRANSLATIONAL MEDICINE, 2012, 4 (118)
  • [10] Parallel testing of several genes (panel-testing) in patients with ectodermal dysplasia using next-generation sequencing
    HD Gabriel
    E Decker
    M Gencik
    [J]. Head & Face Medicine, 8 (Suppl 1)
12345