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  • A novel Xp11. 22 duplication involving HUWE1 in a male with syndromic . . .
    A novel Xp11 22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings 一个新的涉及HUWE1的Xp11 22重复基因在一名男性综合征性智力残疾和其他神经学发现中的应用 关注 科研通微信公众号，转发送积分 3895247
  • Entry - #300705 - CHROMOSOME Xp11. 22 DUPLICATION SYNDROME - OMIM . . .
    A number sign (#) is used with this entry because of evidence that it represents a contiguous gene syndrome within a region of chromosome Xp11 22 (chrX:53 0-54 3 Mb) that involves the HSD17B10 and HUWE1 genes Increased dosage of HUWE1 is believed to be responsible for the phenotype (Froyen et al , 2012) Point mutations in the HSD17B10 and HUWE1 genes have been found to cause syndromic forms of
  • Xp11. 22微重复致智力障碍一家系报道并文献复习 - 中国综合临床
    Objective Xp11 22 microduplication syndrome is a very rare disease In July 2017, 2 male patients with Xp11 22 microduplication syndrome of the same family were admitted to the 980th Hospital of the PLA Joint Service Support Force Diagnosis process: the medical exons of the proband and his parents were sequenced by high-throughput sequencing technology, and the gene sequences were compared and
  • 检索结果页面
    Xp11 22微重复综合征十分罕见，2017年7月解放军联勤保障部队第980医院收治同一家系Xp11 22微重复综合征男性患者2例。 诊断过程：采用高通量测序技术对先证者及其父母进行医学外显子测序，并进行基因序列比对分析。
  • HUWE1基因突变Turner型X连锁智力障碍综合征1例并文献复习_参考网
    目前，文献已报道的HUWE1突变类型包括错义突变、剪接突变及HUWE1基因受累的Xp11 22微重复综合征[4]。国内仅有1例HUWE1错义突变患儿的报道，2例累及HUWE1的Xp11 22微重复综合征导致智力障碍的患者家系报道，发病率尚不清楚[5-7]。检索国内外文献，未见有Turner型X连锁
  • 七例16p12. 2微缺失或微重复胎儿的产前诊断和遗传学分析
    复发性16p12 2（远端）区域定义为在参考基因组（NCBI Build GRCh37 hg19）中21 570 113～21 740 423的位置，该区域的缺失与常染色体隐性非综合征性耳聋有关 [2] ；而复发性16p12 2（近端）区域定义为在参考基因组（NCBI Build GRCh37 hg19）中21 948 445～22 430 805的位置，16p12 2复发
  • HUWE1 Turner型 X 力障碍综合征 例并 - en. yiling. cn
    有1例 HUWE1错义突变患儿的报道，2例累及 HUWE1的 Xp11．22微重复综合征导致智力障碍的患者家系报道，发病率 尚不清楚[5-7]。检索国内外文献，未见有 Turner型 X连锁智力 障碍综合征合并肾功能不全的临床病例报道。
  • A novel Xp11. 22 duplication involving HUWE1 in a male with syndromic . . .
    A novel Xp11 22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings 一个新的涉及HUWE1的Xp11 22重复基因在一名男性综合征性智力残疾和其他神经学发现中的应用 关注 科研通微信公众号，转发送积分 3843015
  • 染色体Xp11. 22重复综合征_染色体Xp11. 22重复综合征疾病数据库_染色体Xp11. 22重复综合征疾病表征_动物模型-RDDC官网
    Xp11 22染色体重复综合症，也被称为xp11 22微重复综合症，与非综合征性X连锁智力障碍和X连锁19号智力发育障碍有关。与Xp11 22染色体重复综合症相关的重要基因是DUPXP11 22（Xp11 22微重复综合症）。相关表型为智力障碍和巨脑。
  • DECIPHER数据库：65种CNV综合征大盘点 - 知乎 - 知乎专栏
    22q11 缺失综合征 (DiGeorge 综合征) 22q11 微重复综合征 22q11 2 distal 缺失综合征 22q11 2 distal 缺失综合征 类固醇硫酸酯酶缺乏症 (STS) Xp11 22-智力障碍 Xp11 22-p11 23 微重复综合征 Xq28 (MECP2) 重复综合征 Xq28 微重复综合征 Leri-Weill 软骨异常 (LWD) - SHOX 缺失 Pelizaeus
  • Xp11. 22微重复致智力障碍一家系报道并文献复习 - AMiner
    Xp11 22微重复综合征十分罕见，2017年7月解放军联勤保障部队第980医院收治同一家系Xp11 22微重复综合征男性患者2例。诊断过程：采用高通量测序技术对先证者及其父母进行医学外显子测序，并进行基因序列比对分析。利用染色体微阵列技术对先证者、其舅、其母进行基因组拷贝数变异分析。
  • HECT, UBA, AND WWE DOMAINS-CONTAINING PROTEIN 1; HUWE1 - OMIM
    The findings indicated that the Xp11 22 region is prone to recombination- and replication-based rearrangements Bosshard et al (2017) found that lymphoblastoid cells from an individual with the HUWE1 duplication showed significantly increased HUWE1 protein expression and increased genomic instability compared with control cells
  • HUWE1 Gene - GeneCards | HUWE1 Protein | HUWE1 Antibody
    HUWE1 (HECT, UBA And WWE Domain Containing E3 Ubiquitin Protein Ligase 1) is a Protein Coding gene Diseases associated with HUWE1 include Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type and Syndromic X-Linked Intellectual Disability Turner Type Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System
  • Chromosome Xp11. 22 duplication syndrome (MRX17) - National Center for . . .
    A novel Xp11 22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings Santos-Rebouças CB, Boy R, Fernandes GNS, Gonçalves AP, Abdala BB, Gonzalez LGC, Dos Santos JM, Pimentel MMG Eur J Med Genet 2023 Apr;66(4):104716 Epub 2023 Jan 30 doi: 10 1016 j ejmg 2023 104716





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