All

What are you looking for?

All
Projects
Results
Organizations

Quick search

  • Projects supported by TA ČR
  • Excellent projects
  • Projects with the highest public support
  • Current projects

Smart search

  • That is how I find a specific +word
  • That is how I leave the -word out of the results
  • “That is how I can find the whole phrase”

Copy-number disorders are a common cause of congenital kidney malformations.

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F12%3A33140437" target="_blank" >RIV/61989592:15110/12:33140437 - isvavai.cz</a>

  • Result on the web

    <a href="http://dx.doi.org/10.1016/j.ajhg.2012.10.007" target="_blank" >http://dx.doi.org/10.1016/j.ajhg.2012.10.007</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.1016/j.ajhg.2012.10.007" target="_blank" >10.1016/j.ajhg.2012.10.007</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Copy-number disorders are a common cause of congenital kidney malformations.

  • Original language description

    We examined the burden of large, rare, copy-number variants (CNVs) in 192 individuals with renal hypodysplasia (RHD) and replicated findings in 330 RHD cases from two independent cohorts. CNV distribution was significantly skewed toward larger gene-disrupting events in RHD cases compared to 4,733 ethnicity-matched controls (p = 4.8 x 10(-11)). This excess was attributable to known and novel (i.e., not present in any database or in the literature) genomic disorders. All together, 55/522 (10.5%) RHD casesharbored 34 distinct known genomic disorders, which were detected in only 0.2% of 13,839 population controls (p = 1.2 x 10(-58)). Another 32 (6.1%) RHD cases harbored large gene-disrupting CNVs that were absent from or extremely rare in the 13,839 population controls, identifying 38 potential novel or rare genomic disorders for this trait. Deletions at the HNF1B locus and the DiGeorge/velocardiofacial locus were most frequent. However, the majority of disorders were detected in a single

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

  • CEP classification

    EB - Genetics and molecular biology

  • OECD FORD branch

Result continuities

  • Project

  • Continuities

    I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Others

  • Publication year

    2012

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    The American Society of Human Genetics

  • ISSN

    0002-9297

  • e-ISSN

  • Volume of the periodical

    91

  • Issue of the periodical within the volume

    6

  • Country of publishing house

    US - UNITED STATES

  • Number of pages

    11

  • Pages from-to

    987-997

  • UT code for WoS article

  • EID of the result in the Scopus database