Autonomic failure associated with 16p11.2 duplication in two siblings

被引：0
|
作者：
Denkensohn, Cole P. [1 ]
Cook, Glen A. [1 ]
机构：
[1] Walter Reed Natl Mil Med Ctr, Dept Neurol, Bethesda, MD 20814 USA
来源：
CLINICAL AUTONOMIC RESEARCH | 2024年 / 34卷 / 06期
关键词：
D O I：
10.1007/s10286-024-01058-9
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：603 / 605
页数：3
相关论文
共 50 条
  • [41] 16p11.2 Microduplication and associated symptoms: A case study
    Knoll, Martin
    Arnett, Kirsten
    Hertza, Jeremy
    APPLIED NEUROPSYCHOLOGY-CHILD, 2018, 7 (04) : 374 - 379
  • [42] 16p11.2 deletion syndrome
    Chung, Wendy K.
    Roberts, Timothy P. L.
    Sherr, Elliott H.
    Snyder, LeeAnne Green
    Spiro, John E.
    CURRENT OPINION IN GENETICS & DEVELOPMENT, 2021, 68 : 49 - 56
  • [43] Microdeletion syndrome 16p11.2
    Peters, Katharina
    SPRACHE-STIMME-GEHOR, 2023, 47 (02): : 73 - 74
  • [44] Mechanisms Underlying Synaptic and Dendritic Alterations in the 16p11.2 Duplication Mouse Model
    Penzes, Peter
    NEUROPSYCHOPHARMACOLOGY, 2016, 41 : S111 - S111
  • [45] Focal Cortical Anomalies and Language Impairment in 16p11.2 Deletion and Duplication Syndrome
    Blackmon, Karen
    Thesen, Thomas
    Green, Sophie
    Ben-Avi, Emma
    Wang, Xiuyuan
    Fuchs, Benjamin
    Kuzniecky, Ruben
    Devinsky, Orrin
    CEREBRAL CORTEX, 2018, 28 (07) : 2422 - 2430
  • [46] Genomic deletions on 16p11.2 associated with severe obesity in Brazil
    Assis, Izadora Sthephanie da Silva
    Salum, Kaio Cezar Rodrigues
    Felicio, Rafaela de Freitas Martins
    Palhinha, Lohanna
    Abreu, Gabriella de Medeiros
    Silva, Tamara
    Mattos, Fernanda Cristina Carvalho
    Rosado, Eliane Lopes
    Zembrzuski, Veronica Marques
    Campos Junior, Mario
    Maya-Monteiro, Clarissa Menezes
    Cabello, Pedro Hernan
    Carneiro, Joao Regis Ivar
    Bozza, Patricia Torres
    da Fonseca, Ana Carolina Proenca
    FRONTIERS IN ENDOCRINOLOGY, 2025, 15
  • [47] Rare variants at 16p11.2 are associated with common variable immunodeficiency
    Maggadottir, S. Melkorka
    Li, Jin
    Glessner, Joseph T.
    Li, Yun Rose
    Wei, Zhi
    Chang, Xiao
    Mentch, Frank D.
    Thomas, Kelly A.
    Kim, Cecilia E.
    Zhao, Yan
    Hou, Cuiping
    Wang, Fengxiang
    Jorgensen, Silje F.
    Perez, Elena E.
    Sullivan, Kathleen E.
    Orange, Jordan S.
    Karlsen, Tom H.
    Chapel, Helen
    Cunningham-Rundles, Charlotte
    Hakonarson, Hakon
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2015, 135 (06) : 1569 - 1577
  • [48] Intrauterine phenotypic features associated with 16p11.2 recurrent microdeletions
    Lin, Shaobin
    Shi, Shanshan
    Zhou, Yi
    Ji, Yuanjun
    Huang, Peizhi
    Wu, Jianzhu
    Chen, Baojiang
    Luo, Yanmin
    PRENATAL DIAGNOSIS, 2018, 38 (06) : 381 - 389
  • [49] Transcriptional Consequences of 16p11.2 Deletion and Duplication in Mouse Cortex and Multiplex Autism Families
    Blumenthal, Ian
    Ragavendran, Ashok
    Erdin, Serkan
    Klei, Lambertus
    Sugathan, Aarathi
    Guide, Jolene R.
    Manavalan, Poornima
    Zhou, Julian Q.
    Wheeler, Vanessa C.
    Levin, Joshua Z.
    Ernst, Carl
    Roeder, Kathryn
    Devlin, Bernie
    Gusella, James F.
    Talkowski, Michael E.
    AMERICAN JOURNAL OF HUMAN GENETICS, 2014, 94 (06) : 870 - 883
  • [50] Recurrent 16p11.2 microdeletions in autism
    Kumar, Ravinesh A.
    KaraMohamed, Samer
    Sudi, Jyotsna
    Conrad, Donald F.
    Brune, Camille
    Badner, Judith A.
    Gilliam, T. Conrad
    Nowak, Norma J.
    Cook, Edwin H., Jr.
    Dobyns, William B.
    Christian, Susan L.
    HUMAN MOLECULAR GENETICS, 2008, 17 (04) : 628 - 638
12345