Novel, likely pathogenic, sequence variants in hereditary neuropathy genes

被引:0
|
作者
Braathen, G. J. [1 ]
Tveten, K. [1 ]
Strand, L. [1 ]
Holla, O. L. [1 ]
Busk, O. L. [1 ]
Hilmarsen, H. T. [1 ]
Svendsen, M. [1 ]
Hoyer, H. [1 ]
机构
[1] Telemark Hosp, Med Genet Sect, Dept Laboratoy Med, Skien, Norway
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
EPR1119
引用
收藏
页码:343 / 343
页数:1
相关论文
共 50 条
  • [21] Pathogenic/likely pathogenic variants in the SHOX, GHR and IGFALS genes among Indian children with idiopathic short stature
    Kumar, Anil
    Jain, Vandana
    Chowdhury, Madhumita Roy
    Kumar, Manoj
    Kaur, Punit
    Kabra, Madhulika
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2020, 33 (01): : 79 - 88
  • [22] New clinical characteristics and novel pathogenic variants of patients with hereditary leukodystrophies
    Xie, Juan-Juan
    Ni, Wang
    Wei, Qiao
    Ma, Huan
    Bai, Ge
    Shen, Ying
    Wu, Zhi-Ying
    CNS NEUROSCIENCE & THERAPEUTICS, 2020, 26 (05) : 567 - 575
  • [23] Germline variants in urothelial carcinoma: Analysis of pathogenic and likely pathogenic variants in 645 subjects
    Abou Alaiwi, Sarah
    Nassar, Amin
    Mouw, Kent William
    Kwiatkowski, David J.
    Choueiri, Toni K.
    Curran, Catherine
    Van Allen, Eliezer Mendel
    Esplin, Edward D.
    Yang, Shan
    Garber, Judy Ellen
    Rana, Huma Q.
    Sonpavde, Guru
    JOURNAL OF CLINICAL ONCOLOGY, 2019, 37 (15)
  • [24] Novel pathogenic variants in the mitochondrial aminoacyl TRNA synthetases genes
    Wang, Jing
    Li, Jianli
    Schmitt, Eric S.
    Peacock, Sandra
    Zhang, Victor W.
    Wong, Lee-Jun
    MOLECULAR GENETICS AND METABOLISM, 2015, 114 (03) : 352 - 353
  • [25] Prevalence of incidental germline pathogenic (PV) and likely pathogenic (LPV) variants in hereditary cancer-related genes identified in matched tumor/normal sequencing of advanced solid tumors.
    Dumbrava, Ecaterina Elena Ileana
    Brusco, Lauren
    Daniels, Molly S.
    Wathoo, Chetna
    Shaw, Kenna Rael
    Lu, Karen H.
    Zheng, Xiaofeng
    Strong, Louise C.
    Litton, Jennifer Keating
    Arun, Banu
    Eterovic, Agda Karina
    Routbort, Mark
    Piha-Paul, Sarina Anne
    Subbiah, Vivek
    Hong, David S.
    Kopetz, Scott
    Mendelsohn, John
    Mills, Gordon B.
    Chen, Ken
    Meric-Bernstam, Funda
    JOURNAL OF CLINICAL ONCOLOGY, 2017, 35
  • [26] Frequency of pathogenic variants in Fanconi anemia genes in hereditary breast and ovarian cancer families
    Stegel, Vida
    Klancar, Gasper
    Anzic, Nina
    Skerl, Petra
    Dragos, Vita Setrajcic
    Bombac, Alenka
    Klasinc, Anja Zagozen
    Vogric, Vesna
    Krajc, Mateja
    Blatnik, Ana
    Strojnik, Ksenja
    Banjac, Marta
    Novakovic, Srdjan
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 394 - 394
  • [27] Incidence of pathogenic, likely pathogenic, and uncertain ALS variants in a clinic cohort
    Roggenbuck, Jennifer
    Palettas, Marilly
    Vicini, Leah
    Patel, Radha
    Quick, Adam
    Kolb, Stephen J.
    NEUROLOGY-GENETICS, 2020, 6 (01)
  • [28] Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies
    Kheir, Valeria
    Cortes-Gonzalez, Vianney
    Zenteno, Juan C.
    Schorderet, Daniel F.
    HUMAN MUTATION, 2019, 40 (06) : 675 - 693
  • [29] NOVEL VARIANTS BROADEN THE MUTATIONAL SPECTRUM OF HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DISORDERS
    Lischka, Annette
    Eggermann, Katja
    Cakar, Arman
    Record, Christopher
    Elbracht, Miriam
    Hornemann, Thorsten
    Senderek, Jan
    Parman, Yesim
    Auer-Grumbach, Michaela
    Reilly, Mary
    Woods, Geoff
    Lassuthova, Petra
    Kurth, Ingo
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2022, 27 : S83 - S84
  • [30] Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN-VI)
    Khalesi, Raziyeh
    Harvey, Nailah
    Garshasbi, Masoud
    Kalamati, Elnaz
    Youssefian, Leila
    Vahidnezhad, Hassan
    Uitto, Jouni
    EXPERIMENTAL DERMATOLOGY, 2022, 31 (06) : 949 - 955