Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Elizabeth Keitges"'
Autor:
Hungshu Wang, Lorraine F. Meisner, Lisa G. Shaffer, Shivanand R. Patil, Douglas W. Hershey, Lillian Y. F. Hsu, Gail Stetten, Christine M. Disteche, Fran Williams, Rodney R. Higgins, Colleen Jackson-Cook, Barbara F. Crandall, Gregory A. Mengden, Leonard J. Sciorra, Ann Leslie Zaslav, Roger P. Donahue, Elizabeth Keitges, Robert Wallerstein, Gabriel S. Khodr, Richard L. Neu, Frederick W. Luthardt, Daniel L. Van Dyke, Catherine Lee Bowen, Peter Benn, Lauren S. Jenkins, Maria Y. Rodriguez, Ming Tsung Yu, Chyi-Chyang Lin, Betty Harrison
Publikováno v:
Prenatal Diagnosis. 20:103-122
Karyotype–phenotype correlations of common trisomy mosaicism prenatally diagnosed via amniocentesis was reviewed in 305 new cases from a collaboration of North American cytogenetic laboratories. Abnormal outcome was noted in 10/25 (40%) cases of 47
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