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2 Article(s) on File
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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Girirajan S,
Rosenfeld JA,
Cooper GM,
Antonacci F,
Siswara P,
Itsara A,
Vives L,
Walsh T,
McCarthy SE,
Baker C,
Mefford HC,
Kidd JM,
Browning SR,
Browning BL,
Dickel DE,
Levy DL,
Ballif BC,
Platky K,
Farber DM,
Gowans GC,
Wetherbee JJ,
Asamoah A,
Weaver DD,
Mark PR,
Dickerson J,
Garg BP,
Ellingwood SA,
Smith R,
Banks VC,
Smith W,
McDonald MT,
Hoo JJ,
French BN,
Hudson C,
Johnson JP,
Ozmore JR,
Moeschler JB,
Surti U,
Escobar LF,
El-Khechen D,
Gorski JL,
Kussmann J,
Salbert B,
Lacassie Y,
Biser A,
McDonald-McGinn DM,
Zackai EH,
Deardorff MA,
Shaikh TH,
Haan E,
Friend KL,
Fichera M,
Romano C,
Gécz J,
DeLisi LE,
Sebat J,
King MC,
Shaffer LG,
Eichler EE

Nature Genetics
  (0): Feb 14 2010   PMCID: PMC2847896
[Abstract]
[DOI] [Full Text] [PDF]

Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1)
Girirajan S,
Mendoza-Londono R,
Vlangos CN,
Dupuis L,
Nowak NJ,
Bunyan DJ,
Hatchwell E,
Elsea SH

American Journal of Medical Genetics Part A
  143A (9): 999-1008; May 2007  
[Abstract]
[Full Text]


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