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3 Article(s) on File
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Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2
Tegay DH,
Chan KK,
Leung L,
Wang C,
Burkett S,
Stone G,
Stanyon R,
Toriello HV,
Hatchwell E

Clinical Genetics
  75 (3): 259-264; Mar 2009  
[DOI] [Full Text]

Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus
Tegay DH,
Lane AH,
Roohi J,
Hatchwell E

American Journal of Medical Genetics Part A
  143A (6): 594-598; Mar 2007  
[DOI] [Full Text]

Genetic dissection using a novel whole genome tiling path BAC array reveals dramatic heterogeneity in Toriello-Carey syndrome, including a novel microdeletion syndrome at 22q12
Hatchwell E,
Tegay DH,
Wang C,
OBrien JE,
Allen W,
Tan T,
Prucka S,
Pettenati MJ,
Montagna C,
Nowak NJ,
Toriello HV

Cellular Oncology
  29 (2): 143-143; 2007  

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