Investigation of genetic variants in patients with 22q11.2 Deletion Syndrome

被引:0
|
作者
Ziemkiewicz, K. [1 ]
Hestand, M. S. [2 ]
Smyk, M. [1 ]
Crowley, T. B. [3 ,4 ]
Breckpot, J. [2 ]
Swillen, A. [2 ]
Kutkowska-Kazmierczak, A. [1 ]
Piotrowicz, M. [5 ]
Gieruszczak-Bialek, B. [6 ]
McDonald-McGinn, D. M. [3 ,4 ]
Vermeesch, J. R. [2 ]
Nowakowska, B. A. [1 ]
机构
[1] Inst Mother & Child Hlth, Warsaw, Poland
[2] Katholieke Univ Leuven, Dept Human Genet, Leuven, Belgium
[3] Childrens Hosp Philadelphia, Human Genet, Philadelphia, PA 19104 USA
[4] Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA
[5] Polish Mothers Mem Hosp Res Inst, Dept Genet, Lodz, Poland
[6] Childrens Mem Hlth Inst, Dept Med Genet, Warsaw, Poland
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
P11.005A
引用
下载
收藏
页码:452 / 452
页数:1
相关论文
共 50 条
  • [31] Clozapine Use in 22q11.2 Deletion Syndrome
    Colijn, Mark Ainsley
    JOURNAL OF CLINICAL PSYCHOPHARMACOLOGY, 2024, 44 (02) : 168 - 178
  • [32] Otolaryngologic manifestations of the 22q11.2 deletion syndrome
    Dyce, O
    McDonald-McGinn, D
    Kirschner, RE
    Zackai, E
    Young, K
    Jacobs, IN
    ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY, 2002, 128 (12) : 1408 - 1412
  • [33] Tonsillectomy in Children with 22q11.2 Deletion Syndrome
    Arganbright, Jill M.
    Hankey, Paul Bryan
    Tracy, Meghan
    Narayanan, Srivats
    Noel-MacDonnell, Janelle
    Ingram, David
    GENES, 2022, 13 (12)
  • [34] 22q11.2 deletion syndrome: an anaesthetic perspective
    Kemp, N.
    SOUTHERN AFRICAN JOURNAL OF ANAESTHESIA AND ANALGESIA, 2021, 27 (05) : 206 - 210
  • [35] NEUROCOGNITIVE FUNCTIONING IN 22Q11.2 DELETION SYNDROME
    Gur, Raquel E.
    Emanuel, Beverly S.
    Yi, James J.
    McDonald-McGinn, Donna M.
    Tang, Sunny X.
    Zackai, Elaine H. J.
    Whinna, Daneen
    Souders, Margaret C.
    Calkins, Monica E.
    Kohler, Christian G.
    Savitt, Adam
    Gur, Ruben C.
    SCHIZOPHRENIA RESEARCH, 2014, 153 : S76 - S76
  • [36] Opitz GBBB syndrome and the 22q11.2 deletion
    Lacassie, Y
    Arriaza, MI
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1996, 62 (03): : 318 - 318
  • [37] Obesity in adults with 22q11.2 deletion syndrome
    Voll, Sarah L.
    Boot, Erik
    Butcher, Nancy J.
    Cooper, Samantha
    Heung, Tracy
    Chow, Eva W. C.
    Silversides, Candice K.
    Bassett, Anne S.
    GENETICS IN MEDICINE, 2017, 19 (02) : 204 - 208
  • [38] Neurological manifestation of 22q11.2 deletion syndrome
    Bayat, Michael
    Bayat, Allan
    NEUROLOGICAL SCIENCES, 2022, 43 (03) : 1695 - 1700
  • [39] Neuroradiographic findings in 22q11.2 deletion syndrome
    Bohm, Lauren A.
    Zhou, Tom C.
    Mingo, Tyler J.
    Dugan, Sarah L.
    Patterson, Richard J.
    Sidman, James D.
    Roby, Brianne B.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (08) : 2158 - 2165
  • [40] Immunological aspects of 22q11.2 deletion syndrome
    A. R. Gennery
    Cellular and Molecular Life Sciences, 2012, 69 : 17 - 27