Phenotypic spectrum associated with copy - number variation of chromosome 16p11.2 p12.2 locus

被引：0
|
作者：
Haltrich, Iren [1 ]
Piko, Henriett [2 ]
Tihanyi, Mariann [3 ]
Toth, Zsuzsa [1 ]
Beke, Artur [4 ]
Karcagi, Veronika [2 ]
Fekete, Gyorgy [1 ]
机构：
[1] Semmelweis Univ, Dept Pediat 2, Budapest, Hungary
[2] Natl Inst Environm Hlth, Dept Mol Genet & Diagnost, Budapest, Hungary
[3] Zala Cty Hosp, Dept Genet, Zalaegerszeg, Hungary
[4] Semmelweis Univ, Dept Obstet & Gynecol 1, Budapest, Hungary
来源：
MOLECULAR CYTOGENETICS | 2017年 / 10卷
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
1.P40
引用
收藏
页数：1
相关论文
共 50 条
  • [1] 16p11.2–p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2
    John C K Barber
    Victoria Hall
    Viv K Maloney
    Shuwen Huang
    Angharad M Roberts
    Angela F Brady
    Nicki Foulds
    Beverley Bewes
    Marianne Volleth
    Thomas Liehr
    Karl Mehnert
    Mark Bateman
    Helen White
    European Journal of Human Genetics, 2013, 21 : 182 - 189
  • [2] Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2
    Blake C Ballif
    Sara A Hornor
    Elizabeth Jenkins
    Suneeta Madan-Khetarpal
    Urvashi Surti
    Kelly E Jackson
    Alexander Asamoah
    Pamela L Brock
    Gordon C Gowans
    Robert L Conway
    John M Graham
    Livija Medne
    Elaine H Zackai
    Tamim H Shaikh
    Joel Geoghegan
    Rebecca R Selzer
    Peggy S Eis
    Bassem A Bejjani
    Lisa G Shaffer
    Nature Genetics, 2007, 39 : 1071 - 1073
  • [3] Motor difficulties in 16p11.2 copy number variation
    Jutla, Amandeep
    Harvey, Loraine
    Veenstra-VanderWeele, Jeremy
    Chung, Wendy K.
    AUTISM RESEARCH, 2024, 17 (05) : 906 - 916
  • [4] Copy number variation and brain structure: lessons learned from chromosome 16p11.2
    Stein, Jason L.
    GENOME MEDICINE, 2015, 7
  • [5] Copy number variation and brain structure: lessons learned from chromosome 16p11.2
    Jason L Stein
    Genome Medicine, 7
  • [6] Developmental Trajectories for Young Children With 16p11.2 Copy Number Variation
    Bernier, Raphael
    Hudac, Caitlin M.
    Chen, Qixuan
    Zeng, Chubing
    Wallace, Arianne Stevens
    Gerdts, Jennifer
    Earl, Rachel
    Peterson, Jessica
    Wolken, Anne
    Peters, Alana
    Hanson, Ellen
    Goin-Kochel, Robin P.
    Kanne, Stephen
    Snyder, LeeAnne Green
    Chung, Wendy K.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2017, 174 (04) : 367 - 380
  • [7] Phenotypic differences in facial features of individuals with the 16p11.2 copy number variant
    Pang, Tim
    BEHAVIOR GENETICS, 2015, 45 (06) : 678 - 678
  • [8] 16P11.2 Copy Number Variations and Neurodevelopmental Disorders
    Rein, Benjamin
    Yan, Zhen
    TRENDS IN NEUROSCIENCES, 2020, 43 (11) : 886 - 901
  • [9] Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development
    Qiu, Yuqi
    Arbogast, Thomas
    Lorenzo, Sandra Martin
    Li, Hongying
    Tang, Shih C.
    Richardson, Ellen
    Hong, Oanh
    Cho, Shawn
    Shanta, Omar
    Pang, Timothy
    Corsello, Christina
    Deutsch, Curtis K.
    Chevalier, Claire
    Davis, Erica E.
    Iakoucheva, Lilia M.
    Herault, Yann
    Katsanis, Nicholas
    Messer, Karen
    Sebat, Jonathan
    CELL REPORTS, 2019, 28 (13): : 3320 - +
  • [10] 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