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
  • [21] Opposing Brain Differences in 16p11.2 Deletion and Duplication Carriers
    Qureshi, Abid Y.
    Mueller, Sophia
    Snyder, Abraham Z.
    Mukherjee, Pratik
    Berman, Jeffrey I.
    Roberts, Timothy P. L.
    Nagarajan, Srikantan S.
    Spiro, John E.
    Chung, Wendy K.
    Sherr, Elliott H.
    Buckner, Randy L.
    JOURNAL OF NEUROSCIENCE, 2014, 34 (34): : 11199 - 11211
  • [22] Neurological Abnormalities among 16p11.2 Deletion and Duplication Carriers
    Steinman, K. J.
    Ramocki, M. B.
    Spence, S. J.
    Proud, M. B.
    Kessler, S. K.
    Marco, E. J.
    Sherr, E. H.
    ANNALS OF NEUROLOGY, 2012, 72 : S196 - S196
  • [23] Deletion and duplication of 16p11.2 are associated with opposing effects on visual evoked potential amplitude
    Jocelyn J. LeBlanc
    Charles A. Nelson
    Molecular Autism, 7
  • [24] Subtle Neurologic Signs in Chromosome 16p11.2 Deletion and Duplication
    Sprigg, B.
    Steinman, K.
    ANNALS OF NEUROLOGY, 2022, 92 : S53 - S54
  • [25] Deletion and duplication of 16p11.2 are associated with opposing effects on visual evoked potential amplitude
    LeBlanc, Jocelyn J.
    Nelson, Charles A.
    MOLECULAR AUTISM, 2016, 7
  • [26] Microdeletion of 16p11.2 Associated With Endocardial Fibroelastosis
    Puvabanditsin, Surasak
    Nagar, Michael S.
    Joshi, Meera
    Lambert, George
    Garrow, Eugene
    Brandsma, Erik
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (09) : 2383 - 2386
  • [27] Atypical parkinsonism with severely reduced striatal dopamine uptake associated with a 16p11.2 duplication syndrome
    Roeben, Benjamin
    Blum, Dominik
    Gabriel, Heinz
    Synofzik, Matthis
    JOURNAL OF NEUROLOGY, 2019, 266 (03) : 775 - 776
  • [28] Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication
    LeeAnne Green Snyder
    Debra D’Angelo
    Qixuan Chen
    Raphael Bernier
    Robin P. Goin-Kochel
    Arianne Stevens Wallace
    Jennifer Gerdts
    Stephen Kanne
    Leandra Berry
    Lisa Blaskey
    Emily Kuschner
    Timothy Roberts
    Elliot Sherr
    Christa L. Martin
    David H. Ledbetter
    John E. Spiro
    Wendy K. Chung
    Ellen Hanson
    Journal of Autism and Developmental Disorders, 2016, 46 : 2734 - 2748
  • [29] Neuro-Behavioral Phenotype in 16p11.2 Duplication: A Case Series
    Posar, Annio
    Visconti, Paola
    CHILDREN-BASEL, 2020, 7 (10):
  • [30] 16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2
    Barber, John C. K.
    Hall, Victoria
    Maloney, Viv K.
    Huang, Shuwen
    Roberts, Angharad M.
    Brady, Angela F.
    Foulds, Nicki
    Bewes, Beverley
    Volleth, Marianne
    Liehr, Thomas
    Mehnert, Karl
    Bateman, Mark
    White, Helen
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2013, 21 (02) : 182 - 189
12345