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  • Publish: 2014/12/16
  • Time: 6:06
Usually caused by sporadic 17p11.2 deletion encompassing the retinoic acid-induced 1 (RAI1) gene or a mutation of RAI1, Smith-Magenis syndrome generally involves variable mental retardation, sleep disturbance, craniofacial and facial abnormalities, developmental delay, and behavioral problems. Here we present a brief introduction to the common knowledge of Smith-Magenis syndrome.
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  5. Indirect ELISA
  6. Polymerase Chain Reaction
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  • Smith-Magenis Syndrome

    Usually caused by sporadic 17p11.2 deletion encompassing the retinoic acid-induced 1 (RAI1) gene or a mutation of RAI1, Smith-Magenis syndrome generally involves variable mental retardation, sleep disturbance, craniofacial and facial abnormalities, developmental delay, and behavioral problems. Here we present a brief introduction to the common knowledge of Smith-Magenis syndrome.

    Publish: 2014/12/16

  • Prader-Willi Syndrome

    Usually involving the loss of imprinted paternal genes on chromosome 15, Prader-Willi syndrome is generally regarded as the most common genetic disorder related to obesity. One symbolic behavior feature of affected individual is extreme and insatiable appetite, which often results in morbid obesity. Here we present a brief introduction to the common knowledge of Prader-Willi syndrome.

    Publish: 2014/12/10

  • Miller-Dieker Syndrome

    Miller-Dieker syndrome is an autosomal dominant congenital disorder characterized by lissencephaly (smooth brain), which is resulted from incomplete neuronal migration. The disorder arises from the deletion of part of the small arm of chromosome 17p (which includes both the LIS1 and 14-3-3 epsilon gene), leading to partial monosomy. Here we present a brief introduction to the common knowledge of Miller-Dieker syndrome.

    Publish: 2014/12/2

  • Langer-Giedion Syndrome

    Langer-Giedion syndrome, caused by the deletion on the long (q) arm of chromosome 8 in region q23.2–q24.13, is a rare genetic disorder that causes bone abnormalities, intellectual disabilities, and distinctive facial features. Here we present a brief introduction to the common knowledge of Langer-Giedion syndrome.

    Publish: 2014/11/25

  • DiGeorge Syndrome

    DiGeorge syndrome, first described in 1968 by the pediatric endocrinologist Angelo DiGeorge1, is a syndrome caused by the deletion of a small piece of chromosome 22. It is one of the most common causes of mental retardation due to a genetic deletion syndrome2, and, next to Down syndrome, it is also the most common genetic cause of congenital heart disease. Here we present a brief introduction to the common knowledge of DiGeorge syndrome.

    Publish: 2014/11/18

  • Cri du Chat Syndrome

    Cri du chat syndrome is a a rare genetic disorder due to a missing part (deletion) of chromosome 5. Cri du chat syndrome was first described by a French geneticist, Jerome Lejeune in 1963 and named after the French term "cry or call of the cat" referring to the characteristic high-pitched cat-like cry of affected children. Here we present a brief introduction to the common knowledge of Cri du chat syndrome.

    Publish: 2014/11/11

  • Angelman Syndrome

    Angelman Syndrome is characterized by severe developmental delay, speech impairment, gait ataxia and/or tremulousness of thelimbs, and a unique behavioral phenotype that includes happy demeanor and excessive laughter. In principle, its resulted from the deregulation of UBE3A gene located on chromosome 15. Here we present a brief introduction to the common knowledge of Angelman Syndrome.

    Publish: 2014/11/4

  • CytoQuest™ CR CTC Enrichment - Leucosep Preparation

    Abnova’s CytoQuest™ CR is a non-invasive system for capture, enumeration, isolation and retrieval of circulating rare cells (CRCs), including circulating tumor cells (CTCs), circulating stem cells (CSCs), and circulating fetal cells (CFCs). Please visit Abnova website for more information.

    Publish: 2014/10/31

  • CytoQuest™ CR CTC Enrichment - Capture Antibody Immobilization

    Abnova’s CytoQuest™ CR is a non-invasive system for capture, enumeration, isolation and retrieval of circulating rare cells (CRCs), including circulating tumor cells (CTCs), circulating stem cells (CSCs), and circulating fetal cells (CFCs). Please visit Abnova website for more information.

    Publish: 2014/10/30

  • CytoQuest™ CR CTC - CTC Capture

    Abnova’s CytoQuest™ CR is a non-invasive system for capture, enumeration, isolation and retrieval of circulating rare cells (CRCs), including circulating tumor cells (CTCs), circulating stem cells (CSCs), and circulating fetal cells (CFCs). Please visit Abnova website for more information.

    Publish: 2014/10/30

  • CytoQuest™ CR CTC - System Maintanence

    Abnova’s CytoQuest™ CR is a non-invasive system for capture, enumeration, isolation and retrieval of circulating rare cells (CRCs), including circulating tumor cells (CTCs), circulating stem cells (CSCs), and circulating fetal cells (CFCs). Please visit Abnova website for more information.

    Publish: 2014/10/30

  • CytoQuest™ CR CTC Enrichment - Post Leucosep Freezing and Banking

    Abnova’s CytoQuest™ CR is a non-invasive system for capture, enumeration, isolation and retrieval of circulating rare cells (CRCs), including circulating tumor cells (CTCs), circulating stem cells (CSCs), and circulating fetal cells (CFCs). Please visit Abnova website for more information.

    Publish: 2014/10/30

  • CytoQuest™ CR CTC - Immunostaining

    Abnova’s CytoQuest™ CR is a non-invasive system for capture, enumeration, isolation and retrieval of circulating rare cells (CRCs), including circulating tumor cells (CTCs), circulating stem cells (CSCs), and circulating fetal cells (CFCs). Please visit Abnova website for more information.

    Publish: 2014/10/30

  • Turner Syndrome

    Turner Syndrome is a sex chrosomal anueploidy caused by the complete or partial loss of one of the sex chromosome with only an intact X chromosome left. Turner syndrome is usually associated with reduced adult height, gonadal dysgenesis and thus insufficient circulating levels of female sex steroids, and infertility. Here we present a brief introduction to the common knowledge of Turner Syndrome.

    Publish: 2014/10/29

  • XYY Syndrome

    XYY Syndrome is a sex chromosomal anueploidy caused by an Y chromosome in male individuals and thus resulted 47,XXY karyotype. In general XXY syndrome is regarded asymptomatic with certain cases reported to be at greater risk for behavioral problems, mild learning disability, delayed speech and language development, along with tall stature. Here we present a brief introduction to the common knowledge of XXY Syndrome.

    Publish: 2014/10/21

  • Klinefelter Syndrome

    Klinefelter syndrome, with the karyotype 47,XXY, is one of the commonest types of congenital chromosomal disorder in males. With an incidence of 0.1% to 0.2% of newborn male infants, it often causes hypogonadism and infertility. Although with different severity, most patients have normal lifespan as general public. Here we present a brief introduction to the common knowledge of Klinefelter syndrome.

    Publish: 2014/10/16

  • Trisomy X Syndrome

    Trisomy X Syndrome, resulted from sex chromosome X trisomy, is regarded the most common female aneuploidies. It is characterized with a broad spectrum of phenotypic variations. Although with different severity, most patients have normal lifespan as general public. Here we present a brief introduction to the common knowledge of Trisomy X Syndrome.

    Publish: 2014/10/9

  • Patau Syndrome

    Patau Syndrome, resulted from chromosome 13 trisomy, is regarded the least common but the most severe among those somatic aneuploidies. It is typically associated with significant infant mortality. Clinical features of Patau syndrome include delayed development with central nervous system anomalies, midline facial defects, and urogenital malformations. Medical management of children with Trisomy 13 should be planned on a case-by-case basis according to the individual circumstances of the patient. Here we present a brief introduction to the common knowledge of Patau Syndrome.

    Publish: 2014/10/1

  • Edwards Syndrome

    Edwards syndrome, also known as trisomy 18, is a genetic disorder resulted from the somatic aneuploidy with an extra chromosome 18. It is typically associated with significant infant mortality. Edwards syndrome is the second most common somatic aneuploidy after Down syndrome. Here we present a brief introduction to the common knowledge of Edwards syndrome.

    Publish: 2014/9/23

  • Result: 1 - 19
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