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pro vyhledávání: '"Brooke Rush"'
Autor:
Fady M. Mikhail, S. Lane Rutledge, Maria Descartes, Nathaniel H. Robin, Brooke Rush, Andrew J. Carroll, Jennifer Ibrahim, Rachel D. Burnside, Robin Godshalk
Publikováno v:
Genetics in Medicine. 16:92-100
The five segmental duplications (LCR22-D to -H) at the distal region of chromosome 22 band q11.2 in the region immediately distal to the DiGeorge/velocardiofacial syndrome deleted region have been implicated in the recurrent distal 22q11.2 microdelet
Autor:
Peter Papenhausen, Inder K. Gadi, Fady M. Mikhail, Venkateswara R. Potluri, Janice L. Smith, Nathaniel H. Robin, Hiba Risheg, Rachel D. Burnside, Erin L. Youngs, Merlin G. Butler, Andrew J. Carroll, James Tepperberg, Vikram L. Jaswaney, Brooke Rush, Romela Pasion, Stuart Schwartz, Elizabeth Keitges
Publikováno v:
Human genetics. 130(4)
The proximal long arm of chromosome 15 has segmental duplications located at breakpoints BP1–BP5 that mediate the generation of NAHR-related microdeletions and microduplications. The classical Prader-Willi/Angelman syndrome deletion is flanked by e