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
收藏
页码:452 / 452
页数:1
相关论文
共 50 条
  • [21] Videonasopharyngoscopy in patients with 22q11.2 deletion syndrome (Shprintzen syndrome)
    Ysunza, A
    Pamplona, MC
    Ramírez, E
    Canún, S
    Sierra, MC
    Silva-Rojas, A
    INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2003, 67 (08) : 911 - 915
  • [22] Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome
    Lawrence, SD
    McDonald-McGinn, DM
    Zackai, E
    Sullivan, KE
    PEDIATRIC RESEARCH, 2003, 53 (04) : 257A - 257A
  • [23] Percutaneous Enteral Feeding in Patients With 22q11.2 Deletion Syndrome
    Ebert, Bridget
    Morrell, Noelle
    Zavala, Hanan
    Chinnadurai, Sivakumar
    Tibesar, Robert
    Roby, Brianne Barnett
    CLEFT PALATE-CRANIOFACIAL JOURNAL, 2022, 59 (01): : 121 - 125
  • [24] Clozapine Use in 22q11.2 Deletion Syndrome
    Colijn, Mark Ainsley
    JOURNAL OF CLINICAL PSYCHOPHARMACOLOGY, 2024, 44 (02) : 168 - 178
  • [25] 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)
  • [26] 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
  • [27] 22q11.2 deletion syndrome: an anaesthetic perspective
    Kemp, N.
    SOUTHERN AFRICAN JOURNAL OF ANAESTHESIA AND ANALGESIA, 2021, 27 (05) : 206 - 210
  • [28] Labyrinthine malformation in the 22q11.2 deletion syndrome
    Hopsu, Erkki
    Markkola, Antti
    Pitkaranta, Anne
    CLINICAL DYSMORPHOLOGY, 2007, 16 (01) : 67 - 68
  • [29] Developmental trajectories in 22q11.2 deletion syndrome
    Swillen, Ann
    McDonald-McGinn, Donna
    AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2015, 169 (02) : 172 - 181
  • [30] Olfactory deficits in deletion syndrome 22q11.2
    Romanos, Marcel
    Schecklmann, Martin
    Kraus, Katharina
    Fallgatter, Andreas J.
    Warnke, Andreas
    Lesch, Klaus-Peter
    Gerlach, Manfred
    SCHIZOPHRENIA RESEARCH, 2011, 129 (2-3) : 220 - 221