Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region

被引：0
|
作者：
Yong-hui Jiang
Kekio Wauki
Qian Liu
Jan Bressler
Yanzhen Pan
Catherine D Kashork
Lisa G Shaffer
Arthur L Beaudet
机构：
[1] Baylor College of Medicine,Departments of Molecular and Human Genetics
[2] Signature Genomics Laboratories,Shinshu University School of Medicine
[3] LLC,undefined
[4] Dept of Medical Genetics,undefined
来源：
BMC Genomics | / 9卷
关键词：
Reverse Transcription Polymerase Chain Reaction; Angelman Syndrome; snoRNA Gene; Imprint Center; Reverse Transcription Polymerase Chain Reaction Experiment;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 38 条
  • [21] Familial translocation t(Y;15)(q12;p11) and de novo deletion of the Prader-Willi syndrome (PWS) critical region on 15q11-q13
    Eliez, S
    Morris, MA
    DahounHadorn, S
    DeLozierBlanchet, CD
    Gos, A
    Sizonenko, P
    Antonarakis, SE
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1997, 70 (03): : 222 - 228
  • [22] SISTER CHROMATID EXCHANGE ANALYSIS OF THE 15Q11 REGION IN PRADER-WILLI SYNDROME PATIENTS
    WENGER, SL
    RAUCH, SD
    HANCHETT, JM
    HUMAN GENETICS, 1989, 83 (02) : 111 - 114
  • [23] Prader-Willi Syndrome and Chromosome 15q11.2 BP1-BP2 Region: A Review
    Butler, Merlin G.
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2023, 24 (05)
  • [24] PHYSICAL MAPPING AND ISOLATION OF EXPRESSED SEQUENCES IN THE PRADER-WILLI ANGELMAN CRITICAL REGION OF CHROMOSOME 15Q11-]Q13
    SUTCLIFFE, JS
    NAKAO, M
    MUTIRANGURA, A
    CHRISTIAN, S
    LEDBETTER, DH
    BEAUDET, AL
    CYTOGENETICS AND CELL GENETICS, 1994, 67 (01): : 19 - 19
  • [25] Prader-Willi syndrome patient with atypical phenotypes caused by mosaic deletion in the paternal 15q11-q13 region: a case report (vol 48, 204, 2022)
    Wu, Jinying
    Lei, Meifang
    Wang, Xuetao
    Liu, Nan
    Xu, Xiaowei
    Gu, Chunyu
    Yu, Yuping
    Liu, Wei
    ITALIAN JOURNAL OF PEDIATRICS, 2023, 49 (01)
  • [26] An association analysis of microsatellite markers across the Prader-Willi/Angelman critical region on chromosome 15 (q11-13) and autism spectrum disorder
    Curran, S
    Roberts, S
    Thomas, S
    Veltman, M
    Browne, J
    Medda, E
    Pickles, A
    Sham, P
    Bolton, PF
    AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2005, 137B (01) : 25 - 28
  • [27] 1例足月小样儿15q11-q13基因缺失变异至Prader-Willi综合征
    刘敬秋
    赵旸
    中国医学工程, 2024, 32 (02) : 116 - 119
  • [28] A recombinant chromosome 15 with duplication of the Prader-Willi/Angelman syndrome critical region arising from a familial intrachromosomal insertion, previously described as a paracentric inversion of 15q11-q15.
    Collinson, M
    Roberts, SE
    Crolla, JA
    Dennis, NR
    JOURNAL OF MEDICAL GENETICS, 2002, 39 : S24 - S24
  • [29] Gene identification in the Prader-Willi syndrome deletion region 15q11-q13: a domain of paternally expressed genes includes the human orthologue of necdin, a murine protein involved in neuronal differentiation.
    Wevrick, R
    Elyas, BG
    MacDonald, HR
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A323 - A323
  • [30] Localization of the tight junction protein gene TJP1 to human chromosome 15q13, distal to the Prader-Willi/Angelman region, and to mouse chromosome 7
    Mohandas, TK
    Chen, XN
    Rowe, LB
    Birkenmeier, EH
    Fanning, AS
    Anderson, JM
    Korenberg, JR
    GENOMICS, 1995, 30 (03) : 594 - 597
1234