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Open Access Publications from the University of California

Scholarly Works (3 results)

  • Article
  • Peer Reviewed
UC Irvine Previously Published Works (2006)
    Cover page: Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome (Am J Med Genet 140A:17–23, 2006)Creative Commons 'BY' version 4.0 license
    • Article
    • Peer Reviewed
    UC Irvine Previously Published Works (2006)
    Congenital diaphragmatic hernia (CDH) is a common and often devastating birth defect that can occur in isolation or as part of a malformation complex. Considerable progress is being made in the identification of genetic causes of CDH. We applied array-based comparative genomic hybridization (aCGH) of approximately 1Mb resolution to 29 CDH patients with prior normal karyotypes who had been recruited into our multi-site study. One patient, clinically diagnosed with Fryns syndrome, demonstrated a de novo 5Mb deletion at chromosome region 1q41-q42.12 that was confirmed by FISH. Given prior reports of CDH in association with cytogenetic abnormalities in this region, we propose that this represents a locus for Fryns syndrome, a Fryns syndrome phenocopy, or CDH.
      Cover page: Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndromeCreative Commons 'BY' version 4.0 license
      • Article
      LBL Publications (2005)

      We describe the fabrication and assembly of the first prototype 201. 25 MHz copper cavity for the muon ionization cooling experiment (MICE). This cavity was developed by the US MUCOOL collaboration and will be tested in the new MUCOOL Test Area at Fermilab. We outline the component and subassembly fabrication steps and the various metal forming and joining methods used to produce the final cavity shape. These include spinning, brazing, TIG welding, electron beam welding, electron beam annealing and deep drawing. Some of the methods developed for this cavity are novel and offer significant cost savings over conventional methods.

        Cover page: Fabrication of the prototype 201.25 mhz cavity for a muon ionization cooling experiment
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