<ul><li>LDS </li></ul><ul><li>BEALS   blue sclerae   </li></ul><ul><li>large joint  PDA, VSD, ASD  vascular tortuosity </l...
Parents: the Filter for New Variants in the Child 3M Variants/g 91-238 New Variations/g/gen Genetics  2000:156, 297-304  C...
Allele Specific Expression, CPNE1 15  C 0  G 6  C 58  G 5  C 50 G Mother Father Child
Inserted T in CPNE1 results in truncated protein and loss of  VWA protein domain WT CPNE1 Daughter Mother Father reference...
 
<ul><li>Jay Flatley </li></ul><ul><li>Gary Schroth </li></ul><ul><li>Irina Khrebtukova </li></ul><ul><li>Steffen Durinck <...
Managing Beatrice <ul><li>Monitor her vasculature </li></ul><ul><li>Continue losartan </li></ul><ul><li>Further the invest...
The Ultimate Charmer
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1 reinhoff berkeley july 2010

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1 reinhoff berkeley july 2010

  1. 2. <ul><li>LDS </li></ul><ul><li>BEALS blue sclerae </li></ul><ul><li>large joint PDA, VSD, ASD vascular tortuosity </li></ul><ul><li>contractures hypertelorism </li></ul><ul><li>ear deformity camptodactyly bifid uvula </li></ul><ul><li>arachnodactly </li></ul><ul><ul><ul><ul><ul><li>MVP joint laxity aortic dilitation </li></ul></ul></ul></ul></ul><ul><li>hypomyoplasia scoliosis </li></ul><ul><li>dolichostenomelia pectus deformity </li></ul><ul><li>pes planus </li></ul><ul><li>lens dislocation </li></ul><ul><li>MFS </li></ul>
  2. 3. Parents: the Filter for New Variants in the Child 3M Variants/g 91-238 New Variations/g/gen Genetics 2000:156, 297-304 Curr. Biol. 2009:19, 1-5
  3. 4. Allele Specific Expression, CPNE1 15 C 0 G 6 C 58 G 5 C 50 G Mother Father Child
  4. 5. Inserted T in CPNE1 results in truncated protein and loss of VWA protein domain WT CPNE1 Daughter Mother Father reference reference reference WT CPNE1 Inserted T in CPNE1
  5. 7. <ul><li>Jay Flatley </li></ul><ul><li>Gary Schroth </li></ul><ul><li>Irina Khrebtukova </li></ul><ul><li>Steffen Durinck </li></ul><ul><li>Shujun Luo </li></ul><ul><li>Kevin Gunderson </li></ul><ul><li>Ray McCauley </li></ul><ul><li>Chris Burge </li></ul><ul><li>Vincent Butty </li></ul><ul><li>John Cleary </li></ul><ul><li>Roni Cohen </li></ul><ul><li>Marc Vidal </li></ul><ul><li>Tong Hao </li></ul><ul><li>Andy Fire </li></ul><ul><li>Amy Chen </li></ul><ul><li>Nick Okasinski </li></ul><ul><li>Julie Yu </li></ul><ul><li>Alan Littleford </li></ul><ul><li>Se-Jin Lee </li></ul><ul><li>Nazli MacDonald </li></ul><ul><li>John Sotos </li></ul><ul><li>Alan Beggs </li></ul><ul><li>David Clapham </li></ul><ul><li>Hal Dietz </li></ul><ul><li>David Valle </li></ul><ul><li>Victor McKusick </li></ul>
  6. 8. Managing Beatrice <ul><li>Monitor her vasculature </li></ul><ul><li>Continue losartan </li></ul><ul><li>Further the investigation </li></ul><ul><li>Find other Beatrices </li></ul>
  7. 9. The Ultimate Charmer
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