Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Nancy L. Owens"'
Autor:
Livija Medne, Mary Pipan, Tamim H. Shaikh, Nancy B. Spinner, Jennifer J.D. Morrissette, Elaine H. Zackai, Elizabeth A. Geiger, Nancy L. Owens, Tyrone Bentley
Publikováno v:
American Journal of Medical Genetics Part A. :208-212
We present a patient with minor dysmorphic features and a mosaic karyotype with two different abnormal cell lines, both involving abnormalities of chromosome 18. Twenty percent of cells studied (4/20) had 46 chromosomes with a large derivative pseudo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c98a07e5fa33a42b929dacdda924498
https://doi.org/10.1002/ajmg.a.30845
https://doi.org/10.1002/ajmg.a.30845
Autor:
Nancy L. Owens, Elaine H. Zackai, Nancy B. Spinner, Jennifer J.D. Morrissette, Livija Celle, Carol L. Shields
Publikováno v:
American Journal of Medical Genetics. 99:21-28
We present a patient with bilateral retinoblastoma and developmental delay who has an abnormal male karyotype containing 47 chromosomes, including an acentric derivative chromosome 13. We postulate that the derivative 13 occurred after a break at 13q
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::775f28ec1d291beebc3c212a0b9aa246
https://doi.org/10.1002/1096-8628(20010215)99:1<21::aid-ajmg1122>3.0.co
https://doi.org/10.1002/1096-8628(20010215)99:1<21::aid-ajmg1122>3.0.co
Autor:
Donna M. McDonald-McGinn, Lorraine Sovinsky, Kim Rehberg Grace, Nancy B. Spinner, Elaine H. Zackai, Joan E. Pellegrino, Nancy L. Owens
Publikováno v:
American Journal of Medical Genetics. 56:22-24
We describe a patient with manifestations of the mosaic trisomy 8 syndrome and mosaicism for a minute marker chromosome. Fluorescence in situ hybridization (FISH) with a chromosome 8 probe confirmed that the marker was derived from chromosome 8. This
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b874c233d1baea9005f24bcb7e6ef43
https://doi.org/10.1002/ajmg.1320560107
https://doi.org/10.1002/ajmg.1320560107
Autor:
Brian D. Lovett, Nancy B. Spinner, Nancy L. Owens, Diana J. Slater, Terence M. Williams, Carlo M. Croce, Eric F. Rappaport, Carolyn A. Felix, James A. Hoxie, Matthew R. Hosler, Peter C. Nowell, Beverly J. Lange, Maureen D. Megonigal
Publikováno v:
Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology. 4(4)
Background: AF-4 is a common partner gene of MLL. AF-4 breakpoints occur in introns, but most AF-4 introns are uncharacterized. Methods and Results: We cloned AF-4 intron 4 and examined the frequency of breakpoints in this intron. The 5.8-kb intron i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0eb43e8367066a00e417439eb3468859
https://pubmed.ncbi.nlm.nih.gov/10671636
https://pubmed.ncbi.nlm.nih.gov/10671636