DICER1-Positive Tumors: Expanding the Genotypic and Phenotypic Spectrum

被引:0
|
作者
Atiq, Mazen [1 ]
Wojcik, Antonina [1 ]
Mullineaux, Lisa [1 ]
Cook, Sara [1 ]
Al-Kateb, Hussam [1 ]
Torres-Mora, Jorge [1 ]
Kipp, Benjamin [1 ]
Rumilla, Kandelaria [1 ]
Halling, Kevin [1 ]
Lo, Ying-Chun [1 ]
机构
[1] Mayo Clin, Div Lab Genet & Genom, Dept Lab Med & Pathol, Rochester, MN USA
来源
JOURNAL OF MOLECULAR DIAGNOSTICS | 2024年 / 26卷 / 06期
关键词
D O I
暂无
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
ST-04
引用
收藏
页码:S36 / S36
页数:1
相关论文
共 50 条
  • [1] Expanding the Phenotypic and Genotypic Spectrum in Yao Syndrome
    Yao, Qingping
    Kontzias, Apostolos
    [J]. ARTHRITIS & RHEUMATOLOGY, 2019, 71
  • [2] Expanding the Phenotypic and Genotypic Spectrum of Bietti Crystalline Dystrophy
    da Palma, Mariana Matioli
    Motta, Fabiana Louise
    Salles, Mariana Vallim
    Texeira, Caio Henrique Marques
    Gomes, Andre V.
    Casaroli-Marano, Ricardo
    Sallum, Juliana Maria Ferraz
    [J]. GENES, 2021, 12 (05)
  • [3] Expanding the Phenotypic and Genotypic Spectrum of ARFGEF1-Related Neurodevelopmental Disorder
    Xu, Lu
    Zhou, Youfeng
    Ren, Xiaoyan
    Xu, Chenlu
    Ren, Rongna
    Yan, Xuke
    Li, Xuelian
    Yang, Huimin
    Xu, Xuebin
    Guo, Xiaotong
    Sheng, Guoxia
    Hua, Yi
    Yuan, Zhefeng
    Wang, Shugang
    Gu, Weiyue
    Sun, Dan
    Gao, Feng
    [J]. FRONTIERS IN MOLECULAR NEUROSCIENCE, 2022, 15
  • [4] Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders
    Abdelfattah, Fatima
    Kariminejad, Ariana
    Kahlert, AnneKarin
    Morrison, Patrick J.
    Gumus, Evren
    Mathews, Katherine D.
    Darbro, Benjamin W.
    Amor, David J.
    Walsh, Maie
    Sznajer, Yves
    Weiss, Luisa
    Weidensee, Sabine
    Chitayat, David
    Shannon, Patrick
    Bermejo-Sanchez, Eva
    Riano-Galan, Isolina
    Hayes, Ian
    Poke, Gemma
    Rooryck, Caroline
    Pennamen, Perrine
    Khung-Savatovsky, Suonavy
    Toutain, Annick
    Vuillaume, Marie-Laure
    Ghaderi-Sohi, Siavash
    Kariminejad, Mohamad H.
    Weinert, Soenke
    Sticht, Heinrich
    Zenker, Martin
    Schanze, Denny
    [J]. HUMAN MUTATION, 2020, 41 (09) : 1615 - 1628
  • [5] Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy
    Altassan, Ruqaiah
    Alqudairy, Hanan
    Aljebreen, Sarah
    Almuhaizea, Mohammed
    Al-Hindi, Hindi
    Pena-Guerra, Karla A.
    Ghebeh, Hazem
    Almzroua, Amer
    Albakheet, Albandary
    Aldosary, Mazhor
    Colak, Dilek
    Arold, Stefan T.
    Kaya, Namik
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2024, 194 (04)
  • [6] Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy
    da Palma, Mariana Matioli
    Marra, Molly
    Igelman, Austin. D. D.
    Ku, Cristy. A. A.
    Burr, Amanda
    Andersen, Katherine
    Everett, Lesley. A. A.
    Porto, Fernanda B. O.
    Sallum, Juliana Maria Ferraz
    Yang, Paul
    Pennesi, Mark. E. E.
    [J]. OPHTHALMIC GENETICS, 2024, 45 (02) : 167 - 174
  • [7] Unusual Presentation in WAGR Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Diseases
    Wang, Qiwei
    Zhang, Xulin
    Qin, Tingfeng
    Wang, Dongni
    Lin, Xiaoshan
    Zhu, Yuanyuan
    Tan, Haowen
    Zhao, Lanqin
    Li, Jing
    Lin, Zhuoling
    Lin, Haotian
    Chen, Weirong
    [J]. GENES, 2022, 13 (08)
  • [8] DLG4-related synaptopathy: expanding the genotypic and phenotypic spectrum
    Kassabian, B.
    Levy, A. M.
    Gardella, E.
    Moller, R. S.
    Tumer, Z.
    Rubboli, G.
    [J]. EPILEPSIA, 2023, 64 : 374 - 375
  • [9] Expanding the genotypic and phenotypic spectrum associated with TBL1XR1 de novo variants
    Ren, Mingyue
    Zheng, Hong
    Lu, Xiangpeng
    Lian, Wenjun
    Feng, Bin
    [J]. GENE, 2023, 886
  • [10] Expanding the spectrum of dicer1-associated sarcomas
    Warren, Mikako
    Hiemenz, Matthew C.
    Schmidt, Ryan
    Shows, Jared
    Cotter, Jennifer
    Toll, Stephanie
    Parham, David M.
    Biegel, Jaclyn A.
    Mascarenhas, Leo
    Shah, Rachana
    [J]. MODERN PATHOLOGY, 2020, 33 (01) : 164 - 174