Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Megan Lampe"'
Autor:
Annette K. Taylor, Debra Freedenberg, Megan Lampe, Carolyn Sue Richards, Rebecca O'Connor, J. Hills, Louise W. Gane, Flora Tassone, Dennis Hulseberg, Randi J Hagerman, Shivanand R. Patil, David K. Manchester
Publikováno v:
American Journal of Medical Genetics. 85:197-201
We report on an individual with developmental delays, short stature, skeletal abnormalities, normal pubertal development, expansion of the fragile X triplet repeat, as well as an isodicentric X chromosome. S is a 19-year-old woman who presented for e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::72b6da0eed1706ad514c66bf273a3fdf
https://doi.org/10.1002/(sici)1096-8628(19990730)85:3<197::aid-ajmg1>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19990730)85:3<197::aid-ajmg1>3.0.co
Autor:
Annette K. Taylor, Megan Lampe, Rob Willemsen, Randi J Hagerman, Ben A. Oostra, David N. Iklé, Flora Tassone, Pamela N. Dyer
Publikováno v:
American Journal of Medical Genetics. 84:250-261
Absence or deficit of FMR1 protein (FMRP) resulting from methylation of full mutation genes is the fundamental defect in fragile X syndrome. We used FMRP immunocytochemistry and detailed phenotypic assessment to investigate the relationship between d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::51d4c594cf90fd723b1e91034a91c3a8
https://doi.org/10.1002/(sici)1096-8628(19990528)84:3<250::aid-ajmg17>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19990528)84:3<250::aid-ajmg17>3.0.co
Autor:
Vivian Shyu, Megan Lampe, Tracy Stackhouse, Annette K. Taylor, Randi J Hagerman, J. McGrath, Daniel N. McIntosh, K. Neitzel, Flora Tassone, Lucy Jane Miller
Publikováno v:
American Journal of Medical Genetics. 83:268-279
The fragile X mutation and fragile X syndrome are associated with hyperarousal, hyperactivity, aggression, and anxiety. These may be related to strong reactions to auditory, tactile, visual, and olfactory stimuli [Hagerman, 1996b; Hagerman and Cronis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::112dbe16bc0fcb29675e810546b59b4a
https://doi.org/10.1002/(sici)1096-8628(19990402)83:4<268::aid-ajmg7>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19990402)83:4<268::aid-ajmg7>3.0.co