Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Chromosomal rearrangements in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Familial analysis reveals rare risk variants for migraine in regulatory regions

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Reappraisal is an effective emotion regulation strategy in children with Tourette syndrome and ADHD

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Chromothripsis and DNA Repair Disorders

    Publikation: Bidrag til tidsskriftReviewForskningpeer review

Vis graf over relationer
Tourette syndrome (TS) is a childhood-onset complex neurobiological disorder characterized by a combination of persistent motor and vocal tics and frequent presence of other neuropsychiatric comorbidities. TS shares the fate of other complex disorders, where the genetic etiology is largely unknown, and identification of susceptibility genes through linkage and association studies has been complicated due to inherent difficulties such as no clear mode of inheritance, genetic heterogeneity, and apparently incomplete penetrance. Positional cloning through mapping of disease-related chromosome rearrangements has been an efficient tool for the cloning of disease genes in several Mendelian disorders and in a number of complex disorders. Through cytogenetic investigation of 205 TS patients, we identified three possibly disease-associated chromosome rearrangements rendering this approach relevant in chasing TS susceptibility genes.
OriginalsprogEngelsk
TidsskriftNeurogenetics
Vol/bind14
Udgave nummer3-4
Sider (fra-til)197-203
Antal sider7
ISSN1364-6745
DOI
StatusUdgivet - nov. 2013

ID: 41782983